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Items: 1 to 20 of 504

1.

rs1488229621 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    19:36720016 (GRCh38)
    19:37210918 (GRCh37)
    Canonical SPDI:
    NC_000019.10:36720015:C:T
    Gene:
    ZNF567 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000011/3 (TOPMED)
    T=0.000029/4 (GnomAD)
    HGVS:
    NC_000019.10:g.36720016C>T, NC_000019.9:g.37210918C>T, NM_152603.5:c.1199C>T, NM_152603.4:c.1199C>T, NM_152603.3:c.1199C>T, NM_152603.2:c.1199C>T, NM_001363651.3:c.1199C>T, NM_001363651.2:c.1199C>T, NM_001363651.1:c.1199C>T, NM_001300979.2:c.1292C>T, NM_001300979.1:c.1292C>T, NM_001322911.2:c.1199C>T, NM_001322911.1:c.1199C>T, NM_001387762.1:c.1292C>T, NM_001387761.1:c.1292C>T, XM_047438320.1:c.1307C>T, XM_047438329.1:c.1307C>T, XM_047438330.1:c.1292C>T, XM_047438331.1:c.1292C>T, XM_047438332.1:c.1307C>T, XM_047438323.1:c.1307C>T, XM_047438334.1:c.1292C>T, XM_047438324.1:c.1307C>T, XM_047438328.1:c.1292C>T, NM_001387769.1:c.1292C>T, XM_047438322.1:c.1307C>T, XM_047438333.1:c.1292C>T, NM_001387766.1:c.1292C>T, XM_047438326.1:c.1292C>T, NM_001387770.1:c.1292C>T, NM_001322914.1:c.1292C>T, NM_001322919.1:c.1292C>T, XM_047438321.1:c.1307C>T, XM_047438325.1:c.1307C>T, XM_047438327.1:c.1292C>T, NM_001322920.1:c.1292C>T, NM_001387760.1:c.1292C>T, NM_001387765.1:c.1292C>T, NM_001322918.1:c.1292C>T, NM_001387759.1:c.1361C>T, NM_001322915.1:c.1292C>T, NM_001322913.1:c.1292C>T, NM_001387767.1:c.1292C>T, NM_001387771.1:c.1292C>T, NM_001387764.1:c.1292C>T, NM_001322917.1:c.1292C>T, NM_001322916.1:c.1292C>T, NM_001322912.1:c.1199C>T, NM_001387763.1:c.1292C>T, NM_001387772.1:c.1268C>T, NM_001387768.1:c.1292C>T, XM_047438335.1:c.1199C>T, NM_001387773.1:c.1199C>T, XM_047438336.1:c.1190C>T, NP_689816.2:p.Ser400Phe, NP_001350580.1:p.Ser400Phe, NP_001287908.1:p.Ser431Phe, NP_001309840.1:p.Ser400Phe, NP_001374691.1:p.Ser431Phe, NP_001374690.1:p.Ser431Phe, XP_047294276.1:p.Ser436Phe, XP_047294285.1:p.Ser436Phe, XP_047294286.1:p.Ser431Phe, XP_047294287.1:p.Ser431Phe, XP_047294288.1:p.Ser436Phe, XP_047294279.1:p.Ser436Phe, XP_047294290.1:p.Ser431Phe, XP_047294280.1:p.Ser436Phe, XP_047294284.1:p.Ser431Phe, NP_001374698.1:p.Ser431Phe, XP_047294278.1:p.Ser436Phe, XP_047294289.1:p.Ser431Phe, NP_001374695.1:p.Ser431Phe, XP_047294282.1:p.Ser431Phe, NP_001374699.1:p.Ser431Phe, NP_001309843.1:p.Ser431Phe, NP_001309848.1:p.Ser431Phe, XP_047294277.1:p.Ser436Phe, XP_047294281.1:p.Ser436Phe, XP_047294283.1:p.Ser431Phe, NP_001309849.1:p.Ser431Phe, NP_001374689.1:p.Ser431Phe, NP_001374694.1:p.Ser431Phe, NP_001309847.1:p.Ser431Phe, NP_001374688.1:p.Ser454Phe, NP_001309844.1:p.Ser431Phe, NP_001309842.1:p.Ser431Phe, NP_001374696.1:p.Ser431Phe, NP_001374700.1:p.Ser431Phe, NP_001374693.1:p.Ser431Phe, NP_001309846.1:p.Ser431Phe, NP_001309845.1:p.Ser431Phe, NP_001309841.1:p.Ser400Phe, NP_001374692.1:p.Ser431Phe, NP_001374701.1:p.Ser423Phe, NP_001374697.1:p.Ser431Phe, XP_047294291.1:p.Ser400Phe, NP_001374702.1:p.Ser400Phe, XP_047294292.1:p.Ser397Phe

    2.

    rs1487711769 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      19:36719951 (GRCh38)
      19:37210853 (GRCh37)
      Canonical SPDI:
      NC_000019.10:36719950:T:C
      Gene:
      ZNF567 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      C=0.000012/3 (GnomAD_exomes)
      HGVS:
      NC_000019.10:g.36719951T>C, NC_000019.9:g.37210853T>C, NM_152603.5:c.1134T>C, NM_152603.4:c.1134T>C, NM_152603.3:c.1134T>C, NM_152603.2:c.1134T>C, NM_001363651.3:c.1134T>C, NM_001363651.2:c.1134T>C, NM_001363651.1:c.1134T>C, NM_001300979.2:c.1227T>C, NM_001300979.1:c.1227T>C, NM_001322911.2:c.1134T>C, NM_001322911.1:c.1134T>C, NM_001387762.1:c.1227T>C, NM_001387761.1:c.1227T>C, XM_047438320.1:c.1242T>C, XM_047438329.1:c.1242T>C, XM_047438330.1:c.1227T>C, XM_047438331.1:c.1227T>C, XM_047438332.1:c.1242T>C, XM_047438323.1:c.1242T>C, XM_047438334.1:c.1227T>C, XM_047438324.1:c.1242T>C, XM_047438328.1:c.1227T>C, NM_001387769.1:c.1227T>C, XM_047438322.1:c.1242T>C, XM_047438333.1:c.1227T>C, NM_001387766.1:c.1227T>C, XM_047438326.1:c.1227T>C, NM_001387770.1:c.1227T>C, NM_001322914.1:c.1227T>C, NM_001322919.1:c.1227T>C, XM_047438321.1:c.1242T>C, XM_047438325.1:c.1242T>C, XM_047438327.1:c.1227T>C, NM_001322920.1:c.1227T>C, NM_001387760.1:c.1227T>C, NM_001387765.1:c.1227T>C, NM_001322918.1:c.1227T>C, NM_001387759.1:c.1296T>C, NM_001322915.1:c.1227T>C, NM_001322913.1:c.1227T>C, NM_001387767.1:c.1227T>C, NM_001387771.1:c.1227T>C, NM_001387764.1:c.1227T>C, NM_001322917.1:c.1227T>C, NM_001322916.1:c.1227T>C, NM_001322912.1:c.1134T>C, NM_001387763.1:c.1227T>C, NM_001387772.1:c.1203T>C, NM_001387768.1:c.1227T>C, XM_047438335.1:c.1134T>C, NM_001387773.1:c.1134T>C, XM_047438336.1:c.1125T>C

      3.

      rs1486682860 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        19:36720268 (GRCh38)
        19:37211170 (GRCh37)
        Canonical SPDI:
        NC_000019.10:36720267:G:C
        Gene:
        ZNF567 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        NC_000019.10:g.36720268G>C, NC_000019.9:g.37211170G>C, NM_152603.5:c.1451G>C, NM_152603.4:c.1451G>C, NM_152603.3:c.1451G>C, NM_152603.2:c.1451G>C, NM_001363651.3:c.1451G>C, NM_001363651.2:c.1451G>C, NM_001363651.1:c.1451G>C, NM_001300979.2:c.1544G>C, NM_001300979.1:c.1544G>C, NM_001322911.2:c.1451G>C, NM_001322911.1:c.1451G>C, NM_001387762.1:c.1544G>C, NM_001387761.1:c.1544G>C, XM_047438320.1:c.1559G>C, XM_047438329.1:c.1559G>C, XM_047438330.1:c.1544G>C, XM_047438331.1:c.1544G>C, XM_047438332.1:c.1559G>C, XM_047438323.1:c.1559G>C, XM_047438334.1:c.1544G>C, XM_047438324.1:c.1559G>C, XM_047438328.1:c.1544G>C, NM_001387769.1:c.1544G>C, XM_047438322.1:c.1559G>C, XM_047438333.1:c.1544G>C, NM_001387766.1:c.1544G>C, XM_047438326.1:c.1544G>C, NM_001387770.1:c.1544G>C, NM_001322914.1:c.1544G>C, NM_001322919.1:c.1544G>C, XM_047438321.1:c.1559G>C, XM_047438325.1:c.1559G>C, XM_047438327.1:c.1544G>C, NM_001322920.1:c.1544G>C, NM_001387760.1:c.1544G>C, NM_001387765.1:c.1544G>C, NM_001322918.1:c.1544G>C, NM_001387759.1:c.1613G>C, NM_001322915.1:c.1544G>C, NM_001322913.1:c.1544G>C, NM_001387767.1:c.1544G>C, NM_001387771.1:c.1544G>C, NM_001387764.1:c.1544G>C, NM_001322917.1:c.1544G>C, NM_001322916.1:c.1544G>C, NM_001322912.1:c.1451G>C, NM_001387763.1:c.1544G>C, NM_001387772.1:c.1520G>C, NM_001387768.1:c.1544G>C, XM_047438335.1:c.1451G>C, NM_001387773.1:c.1451G>C, XM_047438336.1:c.1442G>C, NP_689816.2:p.Ser484Thr, NP_001350580.1:p.Ser484Thr, NP_001287908.1:p.Ser515Thr, NP_001309840.1:p.Ser484Thr, NP_001374691.1:p.Ser515Thr, NP_001374690.1:p.Ser515Thr, XP_047294276.1:p.Ser520Thr, XP_047294285.1:p.Ser520Thr, XP_047294286.1:p.Ser515Thr, XP_047294287.1:p.Ser515Thr, XP_047294288.1:p.Ser520Thr, XP_047294279.1:p.Ser520Thr, XP_047294290.1:p.Ser515Thr, XP_047294280.1:p.Ser520Thr, XP_047294284.1:p.Ser515Thr, NP_001374698.1:p.Ser515Thr, XP_047294278.1:p.Ser520Thr, XP_047294289.1:p.Ser515Thr, NP_001374695.1:p.Ser515Thr, XP_047294282.1:p.Ser515Thr, NP_001374699.1:p.Ser515Thr, NP_001309843.1:p.Ser515Thr, NP_001309848.1:p.Ser515Thr, XP_047294277.1:p.Ser520Thr, XP_047294281.1:p.Ser520Thr, XP_047294283.1:p.Ser515Thr, NP_001309849.1:p.Ser515Thr, NP_001374689.1:p.Ser515Thr, NP_001374694.1:p.Ser515Thr, NP_001309847.1:p.Ser515Thr, NP_001374688.1:p.Ser538Thr, NP_001309844.1:p.Ser515Thr, NP_001309842.1:p.Ser515Thr, NP_001374696.1:p.Ser515Thr, NP_001374700.1:p.Ser515Thr, NP_001374693.1:p.Ser515Thr, NP_001309846.1:p.Ser515Thr, NP_001309845.1:p.Ser515Thr, NP_001309841.1:p.Ser484Thr, NP_001374692.1:p.Ser515Thr, NP_001374701.1:p.Ser507Thr, NP_001374697.1:p.Ser515Thr, XP_047294291.1:p.Ser484Thr, NP_001374702.1:p.Ser484Thr, XP_047294292.1:p.Ser481Thr

        4.

        rs1485752237 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          19:36719163 (GRCh38)
          19:37210065 (GRCh37)
          Canonical SPDI:
          NC_000019.10:36719162:T:C
          Gene:
          ZNF567 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000019.10:g.36719163T>C, NC_000019.9:g.37210065T>C, NM_152603.5:c.346T>C, NM_152603.4:c.346T>C, NM_152603.3:c.346T>C, NM_152603.2:c.346T>C, NM_001363651.3:c.346T>C, NM_001363651.2:c.346T>C, NM_001363651.1:c.346T>C, NM_001300979.2:c.439T>C, NM_001300979.1:c.439T>C, NM_001322911.2:c.346T>C, NM_001322911.1:c.346T>C, NM_001387762.1:c.439T>C, NM_001387761.1:c.439T>C, XM_047438320.1:c.454T>C, XM_047438329.1:c.454T>C, XM_047438330.1:c.439T>C, XM_047438331.1:c.439T>C, XM_047438332.1:c.454T>C, XM_047438323.1:c.454T>C, XM_047438334.1:c.439T>C, XM_047438324.1:c.454T>C, XM_047438328.1:c.439T>C, NM_001387769.1:c.439T>C, XM_047438322.1:c.454T>C, XM_047438333.1:c.439T>C, NM_001387766.1:c.439T>C, XM_047438326.1:c.439T>C, NM_001387770.1:c.439T>C, NM_001322914.1:c.439T>C, NM_001322919.1:c.439T>C, XM_047438321.1:c.454T>C, XM_047438325.1:c.454T>C, XM_047438327.1:c.439T>C, NM_001322920.1:c.439T>C, NM_001387760.1:c.439T>C, NM_001387765.1:c.439T>C, NM_001322918.1:c.439T>C, NM_001387759.1:c.508T>C, NM_001322915.1:c.439T>C, NM_001322913.1:c.439T>C, NM_001387767.1:c.439T>C, NM_001387771.1:c.439T>C, NM_001387764.1:c.439T>C, NM_001322917.1:c.439T>C, NM_001322916.1:c.439T>C, NM_001322912.1:c.346T>C, NM_001387763.1:c.439T>C, NM_001387772.1:c.415T>C, NM_001387768.1:c.439T>C, XM_047438335.1:c.346T>C, NM_001387773.1:c.346T>C, XM_047438336.1:c.337T>C

          5.

          rs1484347179 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C,T [Show Flanks]
            Chromosome:
            19:36718949 (GRCh38)
            19:37209851 (GRCh37)
            Canonical SPDI:
            NC_000019.10:36718948:A:C,NC_000019.10:36718948:A:T
            Gene:
            ZNF567 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by cluster
            MAF:
            C=0.00001/2 (GnomAD_exomes)
            HGVS:
            NC_000019.10:g.36718949A>C, NC_000019.10:g.36718949A>T, NC_000019.9:g.37209851A>C, NC_000019.9:g.37209851A>T, NM_152603.5:c.132A>C, NM_152603.5:c.132A>T, NM_152603.4:c.132A>C, NM_152603.4:c.132A>T, NM_152603.3:c.132A>C, NM_152603.3:c.132A>T, NM_152603.2:c.132A>C, NM_152603.2:c.132A>T, NM_001363651.3:c.132A>C, NM_001363651.3:c.132A>T, NM_001363651.2:c.132A>C, NM_001363651.2:c.132A>T, NM_001363651.1:c.132A>C, NM_001363651.1:c.132A>T, NM_001300979.2:c.225A>C, NM_001300979.2:c.225A>T, NM_001300979.1:c.225A>C, NM_001300979.1:c.225A>T, NM_001322911.2:c.132A>C, NM_001322911.2:c.132A>T, NM_001322911.1:c.132A>C, NM_001322911.1:c.132A>T, NM_001387762.1:c.225A>C, NM_001387762.1:c.225A>T, NM_001387761.1:c.225A>C, NM_001387761.1:c.225A>T, XM_047438320.1:c.240A>C, XM_047438320.1:c.240A>T, XM_047438329.1:c.240A>C, XM_047438329.1:c.240A>T, XM_047438330.1:c.225A>C, XM_047438330.1:c.225A>T, XM_047438331.1:c.225A>C, XM_047438331.1:c.225A>T, XM_047438332.1:c.240A>C, XM_047438332.1:c.240A>T, XM_047438323.1:c.240A>C, XM_047438323.1:c.240A>T, XM_047438334.1:c.225A>C, XM_047438334.1:c.225A>T, XM_047438324.1:c.240A>C, XM_047438324.1:c.240A>T, XM_047438328.1:c.225A>C, XM_047438328.1:c.225A>T, NM_001387769.1:c.225A>C, NM_001387769.1:c.225A>T, XM_047438322.1:c.240A>C, XM_047438322.1:c.240A>T, XM_047438333.1:c.225A>C, XM_047438333.1:c.225A>T, NM_001387766.1:c.225A>C, NM_001387766.1:c.225A>T, XM_047438326.1:c.225A>C, XM_047438326.1:c.225A>T, NM_001387770.1:c.225A>C, NM_001387770.1:c.225A>T, NM_001322914.1:c.225A>C, NM_001322914.1:c.225A>T, NM_001322919.1:c.225A>C, NM_001322919.1:c.225A>T, XM_047438321.1:c.240A>C, XM_047438321.1:c.240A>T, XM_047438325.1:c.240A>C, XM_047438325.1:c.240A>T, XM_047438327.1:c.225A>C, XM_047438327.1:c.225A>T, NM_001322920.1:c.225A>C, NM_001322920.1:c.225A>T, NM_001387760.1:c.225A>C, NM_001387760.1:c.225A>T, NM_001387765.1:c.225A>C, NM_001387765.1:c.225A>T, NM_001322918.1:c.225A>C, NM_001322918.1:c.225A>T, NM_001387759.1:c.294A>C, NM_001387759.1:c.294A>T, NM_001322915.1:c.225A>C, NM_001322915.1:c.225A>T, NM_001322913.1:c.225A>C, NM_001322913.1:c.225A>T, NM_001387767.1:c.225A>C, NM_001387767.1:c.225A>T, NM_001387771.1:c.225A>C, NM_001387771.1:c.225A>T, NM_001387764.1:c.225A>C, NM_001387764.1:c.225A>T, NM_001322917.1:c.225A>C, NM_001322917.1:c.225A>T, NM_001322916.1:c.225A>C, NM_001322916.1:c.225A>T, NM_001322912.1:c.132A>C, NM_001322912.1:c.132A>T, NM_001387763.1:c.225A>C, NM_001387763.1:c.225A>T, NM_001387772.1:c.201A>C, NM_001387772.1:c.201A>T, NM_001387768.1:c.225A>C, NM_001387768.1:c.225A>T, XM_047438335.1:c.132A>C, XM_047438335.1:c.132A>T, NM_001387773.1:c.132A>C, NM_001387773.1:c.132A>T, XM_047438336.1:c.123A>C, XM_047438336.1:c.123A>T, NP_689816.2:p.Glu44Asp, NP_689816.2:p.Glu44Asp, NP_001350580.1:p.Glu44Asp, NP_001350580.1:p.Glu44Asp, NP_001287908.1:p.Glu75Asp, NP_001287908.1:p.Glu75Asp, NP_001309840.1:p.Glu44Asp, NP_001309840.1:p.Glu44Asp, NP_001374691.1:p.Glu75Asp, NP_001374691.1:p.Glu75Asp, NP_001374690.1:p.Glu75Asp, NP_001374690.1:p.Glu75Asp, XP_047294276.1:p.Glu80Asp, XP_047294276.1:p.Glu80Asp, XP_047294285.1:p.Glu80Asp, XP_047294285.1:p.Glu80Asp, XP_047294286.1:p.Glu75Asp, XP_047294286.1:p.Glu75Asp, XP_047294287.1:p.Glu75Asp, XP_047294287.1:p.Glu75Asp, XP_047294288.1:p.Glu80Asp, XP_047294288.1:p.Glu80Asp, XP_047294279.1:p.Glu80Asp, XP_047294279.1:p.Glu80Asp, XP_047294290.1:p.Glu75Asp, XP_047294290.1:p.Glu75Asp, XP_047294280.1:p.Glu80Asp, XP_047294280.1:p.Glu80Asp, XP_047294284.1:p.Glu75Asp, XP_047294284.1:p.Glu75Asp, NP_001374698.1:p.Glu75Asp, NP_001374698.1:p.Glu75Asp, XP_047294278.1:p.Glu80Asp, XP_047294278.1:p.Glu80Asp, XP_047294289.1:p.Glu75Asp, XP_047294289.1:p.Glu75Asp, NP_001374695.1:p.Glu75Asp, NP_001374695.1:p.Glu75Asp, XP_047294282.1:p.Glu75Asp, XP_047294282.1:p.Glu75Asp, NP_001374699.1:p.Glu75Asp, NP_001374699.1:p.Glu75Asp, NP_001309843.1:p.Glu75Asp, NP_001309843.1:p.Glu75Asp, NP_001309848.1:p.Glu75Asp, NP_001309848.1:p.Glu75Asp, XP_047294277.1:p.Glu80Asp, XP_047294277.1:p.Glu80Asp, XP_047294281.1:p.Glu80Asp, XP_047294281.1:p.Glu80Asp, XP_047294283.1:p.Glu75Asp, XP_047294283.1:p.Glu75Asp, NP_001309849.1:p.Glu75Asp, NP_001309849.1:p.Glu75Asp, NP_001374689.1:p.Glu75Asp, NP_001374689.1:p.Glu75Asp, NP_001374694.1:p.Glu75Asp, NP_001374694.1:p.Glu75Asp, NP_001309847.1:p.Glu75Asp, NP_001309847.1:p.Glu75Asp, NP_001374688.1:p.Glu98Asp, NP_001374688.1:p.Glu98Asp, NP_001309844.1:p.Glu75Asp, NP_001309844.1:p.Glu75Asp, NP_001309842.1:p.Glu75Asp, NP_001309842.1:p.Glu75Asp, NP_001374696.1:p.Glu75Asp, NP_001374696.1:p.Glu75Asp, NP_001374700.1:p.Glu75Asp, NP_001374700.1:p.Glu75Asp, NP_001374693.1:p.Glu75Asp, NP_001374693.1:p.Glu75Asp, NP_001309846.1:p.Glu75Asp, NP_001309846.1:p.Glu75Asp, NP_001309845.1:p.Glu75Asp, NP_001309845.1:p.Glu75Asp, NP_001309841.1:p.Glu44Asp, NP_001309841.1:p.Glu44Asp, NP_001374692.1:p.Glu75Asp, NP_001374692.1:p.Glu75Asp, NP_001374701.1:p.Glu67Asp, NP_001374701.1:p.Glu67Asp, NP_001374697.1:p.Glu75Asp, NP_001374697.1:p.Glu75Asp, XP_047294291.1:p.Glu44Asp, XP_047294291.1:p.Glu44Asp, NP_001374702.1:p.Glu44Asp, NP_001374702.1:p.Glu44Asp, XP_047294292.1:p.Glu41Asp, XP_047294292.1:p.Glu41Asp

            6.

            rs1482070930 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              19:36719387 (GRCh38)
              19:37210289 (GRCh37)
              Canonical SPDI:
              NC_000019.10:36719386:A:G
              Gene:
              ZNF567 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              G=0.000008/2 (TOPMED)
              HGVS:
              NC_000019.10:g.36719387A>G, NC_000019.9:g.37210289A>G, NM_152603.5:c.570A>G, NM_152603.4:c.570A>G, NM_152603.3:c.570A>G, NM_152603.2:c.570A>G, NM_001363651.3:c.570A>G, NM_001363651.2:c.570A>G, NM_001363651.1:c.570A>G, NM_001300979.2:c.663A>G, NM_001300979.1:c.663A>G, NM_001322911.2:c.570A>G, NM_001322911.1:c.570A>G, NM_001387762.1:c.663A>G, NM_001387761.1:c.663A>G, XM_047438320.1:c.678A>G, XM_047438329.1:c.678A>G, XM_047438330.1:c.663A>G, XM_047438331.1:c.663A>G, XM_047438332.1:c.678A>G, XM_047438323.1:c.678A>G, XM_047438334.1:c.663A>G, XM_047438324.1:c.678A>G, XM_047438328.1:c.663A>G, NM_001387769.1:c.663A>G, XM_047438322.1:c.678A>G, XM_047438333.1:c.663A>G, NM_001387766.1:c.663A>G, XM_047438326.1:c.663A>G, NM_001387770.1:c.663A>G, NM_001322914.1:c.663A>G, NM_001322919.1:c.663A>G, XM_047438321.1:c.678A>G, XM_047438325.1:c.678A>G, XM_047438327.1:c.663A>G, NM_001322920.1:c.663A>G, NM_001387760.1:c.663A>G, NM_001387765.1:c.663A>G, NM_001322918.1:c.663A>G, NM_001387759.1:c.732A>G, NM_001322915.1:c.663A>G, NM_001322913.1:c.663A>G, NM_001387767.1:c.663A>G, NM_001387771.1:c.663A>G, NM_001387764.1:c.663A>G, NM_001322917.1:c.663A>G, NM_001322916.1:c.663A>G, NM_001322912.1:c.570A>G, NM_001387763.1:c.663A>G, NM_001387772.1:c.639A>G, NM_001387768.1:c.663A>G, XM_047438335.1:c.570A>G, NM_001387773.1:c.570A>G, XM_047438336.1:c.561A>G

              7.

              rs1482019298 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                19:36720366 (GRCh38)
                19:37211268 (GRCh37)
                Canonical SPDI:
                NC_000019.10:36720365:C:T
                Gene:
                ZNF567 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000019.10:g.36720366C>T, NC_000019.9:g.37211268C>T, NM_152603.5:c.1549C>T, NM_152603.4:c.1549C>T, NM_152603.3:c.1549C>T, NM_152603.2:c.1549C>T, NM_001363651.3:c.1549C>T, NM_001363651.2:c.1549C>T, NM_001363651.1:c.1549C>T, NM_001300979.2:c.1642C>T, NM_001300979.1:c.1642C>T, NM_001322911.2:c.1549C>T, NM_001322911.1:c.1549C>T, NM_001387762.1:c.1642C>T, NM_001387761.1:c.1642C>T, XM_047438320.1:c.1657C>T, XM_047438329.1:c.1657C>T, XM_047438330.1:c.1642C>T, XM_047438331.1:c.1642C>T, XM_047438332.1:c.1657C>T, XM_047438323.1:c.1657C>T, XM_047438334.1:c.1642C>T, XM_047438324.1:c.1657C>T, XM_047438328.1:c.1642C>T, NM_001387769.1:c.1642C>T, XM_047438322.1:c.1657C>T, XM_047438333.1:c.1642C>T, NM_001387766.1:c.1642C>T, XM_047438326.1:c.1642C>T, NM_001387770.1:c.1642C>T, NM_001322914.1:c.1642C>T, NM_001322919.1:c.1642C>T, XM_047438321.1:c.1657C>T, XM_047438325.1:c.1657C>T, XM_047438327.1:c.1642C>T, NM_001322920.1:c.1642C>T, NM_001387760.1:c.1642C>T, NM_001387765.1:c.1642C>T, NM_001322918.1:c.1642C>T, NM_001387759.1:c.1711C>T, NM_001322915.1:c.1642C>T, NM_001322913.1:c.1642C>T, NM_001387767.1:c.1642C>T, NM_001387771.1:c.1642C>T, NM_001387764.1:c.1642C>T, NM_001322917.1:c.1642C>T, NM_001322916.1:c.1642C>T, NM_001322912.1:c.1549C>T, NM_001387763.1:c.1642C>T, NM_001387772.1:c.1618C>T, NM_001387768.1:c.1642C>T, XM_047438335.1:c.1549C>T, NM_001387773.1:c.1549C>T, XM_047438336.1:c.1540C>T, NP_689816.2:p.Leu517Phe, NP_001350580.1:p.Leu517Phe, NP_001287908.1:p.Leu548Phe, NP_001309840.1:p.Leu517Phe, NP_001374691.1:p.Leu548Phe, NP_001374690.1:p.Leu548Phe, XP_047294276.1:p.Leu553Phe, XP_047294285.1:p.Leu553Phe, XP_047294286.1:p.Leu548Phe, XP_047294287.1:p.Leu548Phe, XP_047294288.1:p.Leu553Phe, XP_047294279.1:p.Leu553Phe, XP_047294290.1:p.Leu548Phe, XP_047294280.1:p.Leu553Phe, XP_047294284.1:p.Leu548Phe, NP_001374698.1:p.Leu548Phe, XP_047294278.1:p.Leu553Phe, XP_047294289.1:p.Leu548Phe, NP_001374695.1:p.Leu548Phe, XP_047294282.1:p.Leu548Phe, NP_001374699.1:p.Leu548Phe, NP_001309843.1:p.Leu548Phe, NP_001309848.1:p.Leu548Phe, XP_047294277.1:p.Leu553Phe, XP_047294281.1:p.Leu553Phe, XP_047294283.1:p.Leu548Phe, NP_001309849.1:p.Leu548Phe, NP_001374689.1:p.Leu548Phe, NP_001374694.1:p.Leu548Phe, NP_001309847.1:p.Leu548Phe, NP_001374688.1:p.Leu571Phe, NP_001309844.1:p.Leu548Phe, NP_001309842.1:p.Leu548Phe, NP_001374696.1:p.Leu548Phe, NP_001374700.1:p.Leu548Phe, NP_001374693.1:p.Leu548Phe, NP_001309846.1:p.Leu548Phe, NP_001309845.1:p.Leu548Phe, NP_001309841.1:p.Leu517Phe, NP_001374692.1:p.Leu548Phe, NP_001374701.1:p.Leu540Phe, NP_001374697.1:p.Leu548Phe, XP_047294291.1:p.Leu517Phe, NP_001374702.1:p.Leu517Phe, XP_047294292.1:p.Leu514Phe

                8.

                rs1478192521 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  19:36719469 (GRCh38)
                  19:37210371 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:36719468:A:G
                  Gene:
                  ZNF567 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  HGVS:
                  NC_000019.10:g.36719469A>G, NC_000019.9:g.37210371A>G, NM_152603.5:c.652A>G, NM_152603.4:c.652A>G, NM_152603.3:c.652A>G, NM_152603.2:c.652A>G, NM_001363651.3:c.652A>G, NM_001363651.2:c.652A>G, NM_001363651.1:c.652A>G, NM_001300979.2:c.745A>G, NM_001300979.1:c.745A>G, NM_001322911.2:c.652A>G, NM_001322911.1:c.652A>G, NM_001387762.1:c.745A>G, NM_001387761.1:c.745A>G, XM_047438320.1:c.760A>G, XM_047438329.1:c.760A>G, XM_047438330.1:c.745A>G, XM_047438331.1:c.745A>G, XM_047438332.1:c.760A>G, XM_047438323.1:c.760A>G, XM_047438334.1:c.745A>G, XM_047438324.1:c.760A>G, XM_047438328.1:c.745A>G, NM_001387769.1:c.745A>G, XM_047438322.1:c.760A>G, XM_047438333.1:c.745A>G, NM_001387766.1:c.745A>G, XM_047438326.1:c.745A>G, NM_001387770.1:c.745A>G, NM_001322914.1:c.745A>G, NM_001322919.1:c.745A>G, XM_047438321.1:c.760A>G, XM_047438325.1:c.760A>G, XM_047438327.1:c.745A>G, NM_001322920.1:c.745A>G, NM_001387760.1:c.745A>G, NM_001387765.1:c.745A>G, NM_001322918.1:c.745A>G, NM_001387759.1:c.814A>G, NM_001322915.1:c.745A>G, NM_001322913.1:c.745A>G, NM_001387767.1:c.745A>G, NM_001387771.1:c.745A>G, NM_001387764.1:c.745A>G, NM_001322917.1:c.745A>G, NM_001322916.1:c.745A>G, NM_001322912.1:c.652A>G, NM_001387763.1:c.745A>G, NM_001387772.1:c.721A>G, NM_001387768.1:c.745A>G, XM_047438335.1:c.652A>G, NM_001387773.1:c.652A>G, XM_047438336.1:c.643A>G, NP_689816.2:p.Ile218Val, NP_001350580.1:p.Ile218Val, NP_001287908.1:p.Ile249Val, NP_001309840.1:p.Ile218Val, NP_001374691.1:p.Ile249Val, NP_001374690.1:p.Ile249Val, XP_047294276.1:p.Ile254Val, XP_047294285.1:p.Ile254Val, XP_047294286.1:p.Ile249Val, XP_047294287.1:p.Ile249Val, XP_047294288.1:p.Ile254Val, XP_047294279.1:p.Ile254Val, XP_047294290.1:p.Ile249Val, XP_047294280.1:p.Ile254Val, XP_047294284.1:p.Ile249Val, NP_001374698.1:p.Ile249Val, XP_047294278.1:p.Ile254Val, XP_047294289.1:p.Ile249Val, NP_001374695.1:p.Ile249Val, XP_047294282.1:p.Ile249Val, NP_001374699.1:p.Ile249Val, NP_001309843.1:p.Ile249Val, NP_001309848.1:p.Ile249Val, XP_047294277.1:p.Ile254Val, XP_047294281.1:p.Ile254Val, XP_047294283.1:p.Ile249Val, NP_001309849.1:p.Ile249Val, NP_001374689.1:p.Ile249Val, NP_001374694.1:p.Ile249Val, NP_001309847.1:p.Ile249Val, NP_001374688.1:p.Ile272Val, NP_001309844.1:p.Ile249Val, NP_001309842.1:p.Ile249Val, NP_001374696.1:p.Ile249Val, NP_001374700.1:p.Ile249Val, NP_001374693.1:p.Ile249Val, NP_001309846.1:p.Ile249Val, NP_001309845.1:p.Ile249Val, NP_001309841.1:p.Ile218Val, NP_001374692.1:p.Ile249Val, NP_001374701.1:p.Ile241Val, NP_001374697.1:p.Ile249Val, XP_047294291.1:p.Ile218Val, NP_001374702.1:p.Ile218Val, XP_047294292.1:p.Ile215Val

                  9.

                  rs1476211961 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    19:36712468 (GRCh38)
                    19:37203370 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:36712467:A:G
                    Gene:
                    ZNF567 (Varview)
                    Functional Consequence:
                    missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    G=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000019.10:g.36712468A>G, NC_000019.9:g.37203370A>G, NM_152603.5:c.-2A>G, NM_152603.4:c.-2A>G, NM_152603.3:c.-2A>G, NM_152603.2:c.-2A>G, NM_001363651.3:c.-2A>G, NM_001363651.2:c.-2A>G, NM_001363651.1:c.-2A>G, NM_001300979.2:c.92A>G, NM_001300979.1:c.92A>G, NM_001322911.2:c.-2A>G, NM_001322911.1:c.-2A>G, NM_001387762.1:c.92A>G, NM_001387761.1:c.92A>G, XM_047438320.1:c.107A>G, XM_047438329.1:c.107A>G, XM_047438330.1:c.92A>G, XM_047438331.1:c.92A>G, XM_047438332.1:c.107A>G, XM_047438323.1:c.107A>G, XM_047438334.1:c.92A>G, XM_047438324.1:c.107A>G, XM_047438328.1:c.92A>G, NM_001387769.1:c.92A>G, XM_047438322.1:c.107A>G, XM_047438333.1:c.92A>G, NM_001387766.1:c.92A>G, XM_047438326.1:c.92A>G, NM_001387770.1:c.92A>G, NM_001322914.1:c.92A>G, NM_001322919.1:c.92A>G, XM_047438321.1:c.107A>G, XM_047438325.1:c.107A>G, XM_047438327.1:c.92A>G, NM_001322920.1:c.92A>G, NM_001387760.1:c.92A>G, NM_001387765.1:c.92A>G, NM_001322918.1:c.92A>G, NM_001387759.1:c.92A>G, NM_001322915.1:c.92A>G, NM_001322913.1:c.92A>G, NM_001387767.1:c.92A>G, NM_001387771.1:c.92A>G, NM_001387764.1:c.92A>G, NM_001322917.1:c.92A>G, NM_001322916.1:c.92A>G, NM_001322912.1:c.-2A>G, NM_001387763.1:c.92A>G, NM_001387772.1:c.-2A>G, NM_001387768.1:c.92A>G, XM_047438335.1:c.-2A>G, NM_001387773.1:c.-2A>G, NP_001287908.1:p.Tyr31Cys, NP_001374691.1:p.Tyr31Cys, NP_001374690.1:p.Tyr31Cys, XP_047294276.1:p.Tyr36Cys, XP_047294285.1:p.Tyr36Cys, XP_047294286.1:p.Tyr31Cys, XP_047294287.1:p.Tyr31Cys, XP_047294288.1:p.Tyr36Cys, XP_047294279.1:p.Tyr36Cys, XP_047294290.1:p.Tyr31Cys, XP_047294280.1:p.Tyr36Cys, XP_047294284.1:p.Tyr31Cys, NP_001374698.1:p.Tyr31Cys, XP_047294278.1:p.Tyr36Cys, XP_047294289.1:p.Tyr31Cys, NP_001374695.1:p.Tyr31Cys, XP_047294282.1:p.Tyr31Cys, NP_001374699.1:p.Tyr31Cys, NP_001309843.1:p.Tyr31Cys, NP_001309848.1:p.Tyr31Cys, XP_047294277.1:p.Tyr36Cys, XP_047294281.1:p.Tyr36Cys, XP_047294283.1:p.Tyr31Cys, NP_001309849.1:p.Tyr31Cys, NP_001374689.1:p.Tyr31Cys, NP_001374694.1:p.Tyr31Cys, NP_001309847.1:p.Tyr31Cys, NP_001374688.1:p.Tyr31Cys, NP_001309844.1:p.Tyr31Cys, NP_001309842.1:p.Tyr31Cys, NP_001374696.1:p.Tyr31Cys, NP_001374700.1:p.Tyr31Cys, NP_001374693.1:p.Tyr31Cys, NP_001309846.1:p.Tyr31Cys, NP_001309845.1:p.Tyr31Cys, NP_001374692.1:p.Tyr31Cys, NP_001374697.1:p.Tyr31Cys

                    10.

                    rs1474028279 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      19:36720539 (GRCh38)
                      19:37211441 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:36720538:T:G
                      Gene:
                      ZNF567 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000019.10:g.36720539T>G, NC_000019.9:g.37211441T>G, NM_152603.5:c.1722T>G, NM_152603.4:c.1722T>G, NM_152603.3:c.1722T>G, NM_152603.2:c.1722T>G, NM_001363651.3:c.1722T>G, NM_001363651.2:c.1722T>G, NM_001363651.1:c.1722T>G, NM_001300979.2:c.1815T>G, NM_001300979.1:c.1815T>G, NM_001322911.2:c.1722T>G, NM_001322911.1:c.1722T>G, NM_001387762.1:c.1815T>G, NM_001387761.1:c.1815T>G, XM_047438320.1:c.1830T>G, XM_047438329.1:c.1830T>G, XM_047438330.1:c.1815T>G, XM_047438331.1:c.1815T>G, XM_047438332.1:c.1830T>G, XM_047438323.1:c.1830T>G, XM_047438334.1:c.1815T>G, XM_047438324.1:c.1830T>G, XM_047438328.1:c.1815T>G, NM_001387769.1:c.1815T>G, XM_047438322.1:c.1830T>G, XM_047438333.1:c.1815T>G, NM_001387766.1:c.1815T>G, XM_047438326.1:c.1815T>G, NM_001387770.1:c.1815T>G, NM_001322914.1:c.1815T>G, NM_001322919.1:c.1815T>G, XM_047438321.1:c.1830T>G, XM_047438325.1:c.1830T>G, XM_047438327.1:c.1815T>G, NM_001322920.1:c.1815T>G, NM_001387760.1:c.1815T>G, NM_001387765.1:c.1815T>G, NM_001322918.1:c.1815T>G, NM_001387759.1:c.1884T>G, NM_001322915.1:c.1815T>G, NM_001322913.1:c.1815T>G, NM_001387767.1:c.1815T>G, NM_001387771.1:c.1815T>G, NM_001387764.1:c.1815T>G, NM_001322917.1:c.1815T>G, NM_001322916.1:c.1815T>G, NM_001322912.1:c.1722T>G, NM_001387763.1:c.1815T>G, NM_001387772.1:c.1791T>G, NM_001387768.1:c.1815T>G, XM_047438335.1:c.1722T>G, NM_001387773.1:c.1722T>G, XM_047438336.1:c.1713T>G, NP_689816.2:p.Ile574Met, NP_001350580.1:p.Ile574Met, NP_001287908.1:p.Ile605Met, NP_001309840.1:p.Ile574Met, NP_001374691.1:p.Ile605Met, NP_001374690.1:p.Ile605Met, XP_047294276.1:p.Ile610Met, XP_047294285.1:p.Ile610Met, XP_047294286.1:p.Ile605Met, XP_047294287.1:p.Ile605Met, XP_047294288.1:p.Ile610Met, XP_047294279.1:p.Ile610Met, XP_047294290.1:p.Ile605Met, XP_047294280.1:p.Ile610Met, XP_047294284.1:p.Ile605Met, NP_001374698.1:p.Ile605Met, XP_047294278.1:p.Ile610Met, XP_047294289.1:p.Ile605Met, NP_001374695.1:p.Ile605Met, XP_047294282.1:p.Ile605Met, NP_001374699.1:p.Ile605Met, NP_001309843.1:p.Ile605Met, NP_001309848.1:p.Ile605Met, XP_047294277.1:p.Ile610Met, XP_047294281.1:p.Ile610Met, XP_047294283.1:p.Ile605Met, NP_001309849.1:p.Ile605Met, NP_001374689.1:p.Ile605Met, NP_001374694.1:p.Ile605Met, NP_001309847.1:p.Ile605Met, NP_001374688.1:p.Ile628Met, NP_001309844.1:p.Ile605Met, NP_001309842.1:p.Ile605Met, NP_001374696.1:p.Ile605Met, NP_001374700.1:p.Ile605Met, NP_001374693.1:p.Ile605Met, NP_001309846.1:p.Ile605Met, NP_001309845.1:p.Ile605Met, NP_001309841.1:p.Ile574Met, NP_001374692.1:p.Ile605Met, NP_001374701.1:p.Ile597Met, NP_001374697.1:p.Ile605Met, XP_047294291.1:p.Ile574Met, NP_001374702.1:p.Ile574Met, XP_047294292.1:p.Ile571Met

                      11.

                      rs1473188168 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CT>- [Show Flanks]
                        Chromosome:
                        19:36712464 (GRCh38)
                        19:37203366 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:36712461:CTCT:CT
                        Gene:
                        ZNF567 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,frameshift_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        CTCT=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000019.10:g.36712462CT[1], NC_000019.9:g.37203364CT[1], NM_152603.5:c.-8CT[1], NM_152603.4:c.-8CT[1], NM_152603.3:c.-8CT[1], NM_152603.2:c.-8CT[1], NM_001363651.3:c.-8CT[1], NM_001363651.2:c.-8CT[1], NM_001363651.1:c.-8CT[1], NM_001300979.2:c.88_89del, NM_001300979.1:c.88_89del, NM_001322911.2:c.-8CT[1], NM_001322911.1:c.-8CT[1], NM_001387762.1:c.88_89del, NM_001387761.1:c.88_89del, XM_047438320.1:c.103_104del, XM_047438329.1:c.103_104del, XM_047438330.1:c.88_89del, XM_047438331.1:c.88_89del, XM_047438332.1:c.103_104del, XM_047438323.1:c.103_104del, XM_047438334.1:c.88_89del, XM_047438324.1:c.103_104del, XM_047438328.1:c.88_89del, NM_001387769.1:c.88_89del, XM_047438322.1:c.103_104del, XM_047438333.1:c.88_89del, NM_001387766.1:c.88_89del, XM_047438326.1:c.88_89del, NM_001387770.1:c.88_89del, NM_001322914.1:c.88_89del, NM_001322919.1:c.88_89del, XM_047438321.1:c.103_104del, XM_047438325.1:c.103_104del, XM_047438327.1:c.88_89del, NM_001322920.1:c.88_89del, NM_001387760.1:c.88_89del, NM_001387765.1:c.88_89del, NM_001322918.1:c.88_89del, NM_001387759.1:c.88_89del, NM_001322915.1:c.88_89del, NM_001322913.1:c.88_89del, NM_001387767.1:c.88_89del, NM_001387771.1:c.88_89del, NM_001387764.1:c.88_89del, NM_001322917.1:c.88_89del, NM_001322916.1:c.88_89del, NM_001322912.1:c.-8CT[1], NM_001387763.1:c.88_89del, NM_001387772.1:c.-8CT[1], NM_001387768.1:c.88_89del, XM_047438335.1:c.-8CT[1], NM_001387773.1:c.-8CT[1], NP_001287908.1:p.Leu30fs, NP_001374691.1:p.Leu30fs, NP_001374690.1:p.Leu30fs, XP_047294276.1:p.Leu35fs, XP_047294285.1:p.Leu35fs, XP_047294286.1:p.Leu30fs, XP_047294287.1:p.Leu30fs, XP_047294288.1:p.Leu35fs, XP_047294279.1:p.Leu35fs, XP_047294290.1:p.Leu30fs, XP_047294280.1:p.Leu35fs, XP_047294284.1:p.Leu30fs, NP_001374698.1:p.Leu30fs, XP_047294278.1:p.Leu35fs, XP_047294289.1:p.Leu30fs, NP_001374695.1:p.Leu30fs, XP_047294282.1:p.Leu30fs, NP_001374699.1:p.Leu30fs, NP_001309843.1:p.Leu30fs, NP_001309848.1:p.Leu30fs, XP_047294277.1:p.Leu35fs, XP_047294281.1:p.Leu35fs, XP_047294283.1:p.Leu30fs, NP_001309849.1:p.Leu30fs, NP_001374689.1:p.Leu30fs, NP_001374694.1:p.Leu30fs, NP_001309847.1:p.Leu30fs, NP_001374688.1:p.Leu30fs, NP_001309844.1:p.Leu30fs, NP_001309842.1:p.Leu30fs, NP_001374696.1:p.Leu30fs, NP_001374700.1:p.Leu30fs, NP_001374693.1:p.Leu30fs, NP_001309846.1:p.Leu30fs, NP_001309845.1:p.Leu30fs, NP_001374692.1:p.Leu30fs, NP_001374697.1:p.Leu30fs

                        12.

                        rs1472012313 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          19:36720091 (GRCh38)
                          19:37210993 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:36720090:A:G
                          Gene:
                          ZNF567 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000019.10:g.36720091A>G, NC_000019.9:g.37210993A>G, NM_152603.5:c.1274A>G, NM_152603.4:c.1274A>G, NM_152603.3:c.1274A>G, NM_152603.2:c.1274A>G, NM_001363651.3:c.1274A>G, NM_001363651.2:c.1274A>G, NM_001363651.1:c.1274A>G, NM_001300979.2:c.1367A>G, NM_001300979.1:c.1367A>G, NM_001322911.2:c.1274A>G, NM_001322911.1:c.1274A>G, NM_001387762.1:c.1367A>G, NM_001387761.1:c.1367A>G, XM_047438320.1:c.1382A>G, XM_047438329.1:c.1382A>G, XM_047438330.1:c.1367A>G, XM_047438331.1:c.1367A>G, XM_047438332.1:c.1382A>G, XM_047438323.1:c.1382A>G, XM_047438334.1:c.1367A>G, XM_047438324.1:c.1382A>G, XM_047438328.1:c.1367A>G, NM_001387769.1:c.1367A>G, XM_047438322.1:c.1382A>G, XM_047438333.1:c.1367A>G, NM_001387766.1:c.1367A>G, XM_047438326.1:c.1367A>G, NM_001387770.1:c.1367A>G, NM_001322914.1:c.1367A>G, NM_001322919.1:c.1367A>G, XM_047438321.1:c.1382A>G, XM_047438325.1:c.1382A>G, XM_047438327.1:c.1367A>G, NM_001322920.1:c.1367A>G, NM_001387760.1:c.1367A>G, NM_001387765.1:c.1367A>G, NM_001322918.1:c.1367A>G, NM_001387759.1:c.1436A>G, NM_001322915.1:c.1367A>G, NM_001322913.1:c.1367A>G, NM_001387767.1:c.1367A>G, NM_001387771.1:c.1367A>G, NM_001387764.1:c.1367A>G, NM_001322917.1:c.1367A>G, NM_001322916.1:c.1367A>G, NM_001322912.1:c.1274A>G, NM_001387763.1:c.1367A>G, NM_001387772.1:c.1343A>G, NM_001387768.1:c.1367A>G, XM_047438335.1:c.1274A>G, NM_001387773.1:c.1274A>G, XM_047438336.1:c.1265A>G, NP_689816.2:p.Lys425Arg, NP_001350580.1:p.Lys425Arg, NP_001287908.1:p.Lys456Arg, NP_001309840.1:p.Lys425Arg, NP_001374691.1:p.Lys456Arg, NP_001374690.1:p.Lys456Arg, XP_047294276.1:p.Lys461Arg, XP_047294285.1:p.Lys461Arg, XP_047294286.1:p.Lys456Arg, XP_047294287.1:p.Lys456Arg, XP_047294288.1:p.Lys461Arg, XP_047294279.1:p.Lys461Arg, XP_047294290.1:p.Lys456Arg, XP_047294280.1:p.Lys461Arg, XP_047294284.1:p.Lys456Arg, NP_001374698.1:p.Lys456Arg, XP_047294278.1:p.Lys461Arg, XP_047294289.1:p.Lys456Arg, NP_001374695.1:p.Lys456Arg, XP_047294282.1:p.Lys456Arg, NP_001374699.1:p.Lys456Arg, NP_001309843.1:p.Lys456Arg, NP_001309848.1:p.Lys456Arg, XP_047294277.1:p.Lys461Arg, XP_047294281.1:p.Lys461Arg, XP_047294283.1:p.Lys456Arg, NP_001309849.1:p.Lys456Arg, NP_001374689.1:p.Lys456Arg, NP_001374694.1:p.Lys456Arg, NP_001309847.1:p.Lys456Arg, NP_001374688.1:p.Lys479Arg, NP_001309844.1:p.Lys456Arg, NP_001309842.1:p.Lys456Arg, NP_001374696.1:p.Lys456Arg, NP_001374700.1:p.Lys456Arg, NP_001374693.1:p.Lys456Arg, NP_001309846.1:p.Lys456Arg, NP_001309845.1:p.Lys456Arg, NP_001309841.1:p.Lys425Arg, NP_001374692.1:p.Lys456Arg, NP_001374701.1:p.Lys448Arg, NP_001374697.1:p.Lys456Arg, XP_047294291.1:p.Lys425Arg, NP_001374702.1:p.Lys425Arg, XP_047294292.1:p.Lys422Arg

                          13.

                          rs1466049188 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            19:36720307 (GRCh38)
                            19:37211209 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:36720306:C:G
                            Gene:
                            ZNF567 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000047/1 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000019.10:g.36720307C>G, NC_000019.9:g.37211209C>G, NM_152603.5:c.1490C>G, NM_152603.4:c.1490C>G, NM_152603.3:c.1490C>G, NM_152603.2:c.1490C>G, NM_001363651.3:c.1490C>G, NM_001363651.2:c.1490C>G, NM_001363651.1:c.1490C>G, NM_001300979.2:c.1583C>G, NM_001300979.1:c.1583C>G, NM_001322911.2:c.1490C>G, NM_001322911.1:c.1490C>G, NM_001387762.1:c.1583C>G, NM_001387761.1:c.1583C>G, XM_047438320.1:c.1598C>G, XM_047438329.1:c.1598C>G, XM_047438330.1:c.1583C>G, XM_047438331.1:c.1583C>G, XM_047438332.1:c.1598C>G, XM_047438323.1:c.1598C>G, XM_047438334.1:c.1583C>G, XM_047438324.1:c.1598C>G, XM_047438328.1:c.1583C>G, NM_001387769.1:c.1583C>G, XM_047438322.1:c.1598C>G, XM_047438333.1:c.1583C>G, NM_001387766.1:c.1583C>G, XM_047438326.1:c.1583C>G, NM_001387770.1:c.1583C>G, NM_001322914.1:c.1583C>G, NM_001322919.1:c.1583C>G, XM_047438321.1:c.1598C>G, XM_047438325.1:c.1598C>G, XM_047438327.1:c.1583C>G, NM_001322920.1:c.1583C>G, NM_001387760.1:c.1583C>G, NM_001387765.1:c.1583C>G, NM_001322918.1:c.1583C>G, NM_001387759.1:c.1652C>G, NM_001322915.1:c.1583C>G, NM_001322913.1:c.1583C>G, NM_001387767.1:c.1583C>G, NM_001387771.1:c.1583C>G, NM_001387764.1:c.1583C>G, NM_001322917.1:c.1583C>G, NM_001322916.1:c.1583C>G, NM_001322912.1:c.1490C>G, NM_001387763.1:c.1583C>G, NM_001387772.1:c.1559C>G, NM_001387768.1:c.1583C>G, XM_047438335.1:c.1490C>G, NM_001387773.1:c.1490C>G, XM_047438336.1:c.1481C>G, NP_689816.2:p.Thr497Arg, NP_001350580.1:p.Thr497Arg, NP_001287908.1:p.Thr528Arg, NP_001309840.1:p.Thr497Arg, NP_001374691.1:p.Thr528Arg, NP_001374690.1:p.Thr528Arg, XP_047294276.1:p.Thr533Arg, XP_047294285.1:p.Thr533Arg, XP_047294286.1:p.Thr528Arg, XP_047294287.1:p.Thr528Arg, XP_047294288.1:p.Thr533Arg, XP_047294279.1:p.Thr533Arg, XP_047294290.1:p.Thr528Arg, XP_047294280.1:p.Thr533Arg, XP_047294284.1:p.Thr528Arg, NP_001374698.1:p.Thr528Arg, XP_047294278.1:p.Thr533Arg, XP_047294289.1:p.Thr528Arg, NP_001374695.1:p.Thr528Arg, XP_047294282.1:p.Thr528Arg, NP_001374699.1:p.Thr528Arg, NP_001309843.1:p.Thr528Arg, NP_001309848.1:p.Thr528Arg, XP_047294277.1:p.Thr533Arg, XP_047294281.1:p.Thr533Arg, XP_047294283.1:p.Thr528Arg, NP_001309849.1:p.Thr528Arg, NP_001374689.1:p.Thr528Arg, NP_001374694.1:p.Thr528Arg, NP_001309847.1:p.Thr528Arg, NP_001374688.1:p.Thr551Arg, NP_001309844.1:p.Thr528Arg, NP_001309842.1:p.Thr528Arg, NP_001374696.1:p.Thr528Arg, NP_001374700.1:p.Thr528Arg, NP_001374693.1:p.Thr528Arg, NP_001309846.1:p.Thr528Arg, NP_001309845.1:p.Thr528Arg, NP_001309841.1:p.Thr497Arg, NP_001374692.1:p.Thr528Arg, NP_001374701.1:p.Thr520Arg, NP_001374697.1:p.Thr528Arg, XP_047294291.1:p.Thr497Arg, NP_001374702.1:p.Thr497Arg, XP_047294292.1:p.Thr494Arg

                            14.

                            rs1466006737 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              19:36719668 (GRCh38)
                              19:37210570 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:36719667:G:T
                              Gene:
                              ZNF567 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000019.10:g.36719668G>T, NC_000019.9:g.37210570G>T, NM_152603.5:c.851G>T, NM_152603.4:c.851G>T, NM_152603.3:c.851G>T, NM_152603.2:c.851G>T, NM_001363651.3:c.851G>T, NM_001363651.2:c.851G>T, NM_001363651.1:c.851G>T, NM_001300979.2:c.944G>T, NM_001300979.1:c.944G>T, NM_001322911.2:c.851G>T, NM_001322911.1:c.851G>T, NM_001387762.1:c.944G>T, NM_001387761.1:c.944G>T, XM_047438320.1:c.959G>T, XM_047438329.1:c.959G>T, XM_047438330.1:c.944G>T, XM_047438331.1:c.944G>T, XM_047438332.1:c.959G>T, XM_047438323.1:c.959G>T, XM_047438334.1:c.944G>T, XM_047438324.1:c.959G>T, XM_047438328.1:c.944G>T, NM_001387769.1:c.944G>T, XM_047438322.1:c.959G>T, XM_047438333.1:c.944G>T, NM_001387766.1:c.944G>T, XM_047438326.1:c.944G>T, NM_001387770.1:c.944G>T, NM_001322914.1:c.944G>T, NM_001322919.1:c.944G>T, XM_047438321.1:c.959G>T, XM_047438325.1:c.959G>T, XM_047438327.1:c.944G>T, NM_001322920.1:c.944G>T, NM_001387760.1:c.944G>T, NM_001387765.1:c.944G>T, NM_001322918.1:c.944G>T, NM_001387759.1:c.1013G>T, NM_001322915.1:c.944G>T, NM_001322913.1:c.944G>T, NM_001387767.1:c.944G>T, NM_001387771.1:c.944G>T, NM_001387764.1:c.944G>T, NM_001322917.1:c.944G>T, NM_001322916.1:c.944G>T, NM_001322912.1:c.851G>T, NM_001387763.1:c.944G>T, NM_001387772.1:c.920G>T, NM_001387768.1:c.944G>T, XM_047438335.1:c.851G>T, NM_001387773.1:c.851G>T, XM_047438336.1:c.842G>T, NP_689816.2:p.Gly284Val, NP_001350580.1:p.Gly284Val, NP_001287908.1:p.Gly315Val, NP_001309840.1:p.Gly284Val, NP_001374691.1:p.Gly315Val, NP_001374690.1:p.Gly315Val, XP_047294276.1:p.Gly320Val, XP_047294285.1:p.Gly320Val, XP_047294286.1:p.Gly315Val, XP_047294287.1:p.Gly315Val, XP_047294288.1:p.Gly320Val, XP_047294279.1:p.Gly320Val, XP_047294290.1:p.Gly315Val, XP_047294280.1:p.Gly320Val, XP_047294284.1:p.Gly315Val, NP_001374698.1:p.Gly315Val, XP_047294278.1:p.Gly320Val, XP_047294289.1:p.Gly315Val, NP_001374695.1:p.Gly315Val, XP_047294282.1:p.Gly315Val, NP_001374699.1:p.Gly315Val, NP_001309843.1:p.Gly315Val, NP_001309848.1:p.Gly315Val, XP_047294277.1:p.Gly320Val, XP_047294281.1:p.Gly320Val, XP_047294283.1:p.Gly315Val, NP_001309849.1:p.Gly315Val, NP_001374689.1:p.Gly315Val, NP_001374694.1:p.Gly315Val, NP_001309847.1:p.Gly315Val, NP_001374688.1:p.Gly338Val, NP_001309844.1:p.Gly315Val, NP_001309842.1:p.Gly315Val, NP_001374696.1:p.Gly315Val, NP_001374700.1:p.Gly315Val, NP_001374693.1:p.Gly315Val, NP_001309846.1:p.Gly315Val, NP_001309845.1:p.Gly315Val, NP_001309841.1:p.Gly284Val, NP_001374692.1:p.Gly315Val, NP_001374701.1:p.Gly307Val, NP_001374697.1:p.Gly315Val, XP_047294291.1:p.Gly284Val, NP_001374702.1:p.Gly284Val, XP_047294292.1:p.Gly281Val

                              15.

                              rs1464266133 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                19:36720447 (GRCh38)
                                19:37211349 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:36720446:T:C
                                Gene:
                                ZNF567 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                NC_000019.10:g.36720447T>C, NC_000019.9:g.37211349T>C, NM_152603.5:c.1630T>C, NM_152603.4:c.1630T>C, NM_152603.3:c.1630T>C, NM_152603.2:c.1630T>C, NM_001363651.3:c.1630T>C, NM_001363651.2:c.1630T>C, NM_001363651.1:c.1630T>C, NM_001300979.2:c.1723T>C, NM_001300979.1:c.1723T>C, NM_001322911.2:c.1630T>C, NM_001322911.1:c.1630T>C, NM_001387762.1:c.1723T>C, NM_001387761.1:c.1723T>C, XM_047438320.1:c.1738T>C, XM_047438329.1:c.1738T>C, XM_047438330.1:c.1723T>C, XM_047438331.1:c.1723T>C, XM_047438332.1:c.1738T>C, XM_047438323.1:c.1738T>C, XM_047438334.1:c.1723T>C, XM_047438324.1:c.1738T>C, XM_047438328.1:c.1723T>C, NM_001387769.1:c.1723T>C, XM_047438322.1:c.1738T>C, XM_047438333.1:c.1723T>C, NM_001387766.1:c.1723T>C, XM_047438326.1:c.1723T>C, NM_001387770.1:c.1723T>C, NM_001322914.1:c.1723T>C, NM_001322919.1:c.1723T>C, XM_047438321.1:c.1738T>C, XM_047438325.1:c.1738T>C, XM_047438327.1:c.1723T>C, NM_001322920.1:c.1723T>C, NM_001387760.1:c.1723T>C, NM_001387765.1:c.1723T>C, NM_001322918.1:c.1723T>C, NM_001387759.1:c.1792T>C, NM_001322915.1:c.1723T>C, NM_001322913.1:c.1723T>C, NM_001387767.1:c.1723T>C, NM_001387771.1:c.1723T>C, NM_001387764.1:c.1723T>C, NM_001322917.1:c.1723T>C, NM_001322916.1:c.1723T>C, NM_001322912.1:c.1630T>C, NM_001387763.1:c.1723T>C, NM_001387772.1:c.1699T>C, NM_001387768.1:c.1723T>C, XM_047438335.1:c.1630T>C, NM_001387773.1:c.1630T>C, XM_047438336.1:c.1621T>C, NP_689816.2:p.Tyr544His, NP_001350580.1:p.Tyr544His, NP_001287908.1:p.Tyr575His, NP_001309840.1:p.Tyr544His, NP_001374691.1:p.Tyr575His, NP_001374690.1:p.Tyr575His, XP_047294276.1:p.Tyr580His, XP_047294285.1:p.Tyr580His, XP_047294286.1:p.Tyr575His, XP_047294287.1:p.Tyr575His, XP_047294288.1:p.Tyr580His, XP_047294279.1:p.Tyr580His, XP_047294290.1:p.Tyr575His, XP_047294280.1:p.Tyr580His, XP_047294284.1:p.Tyr575His, NP_001374698.1:p.Tyr575His, XP_047294278.1:p.Tyr580His, XP_047294289.1:p.Tyr575His, NP_001374695.1:p.Tyr575His, XP_047294282.1:p.Tyr575His, NP_001374699.1:p.Tyr575His, NP_001309843.1:p.Tyr575His, NP_001309848.1:p.Tyr575His, XP_047294277.1:p.Tyr580His, XP_047294281.1:p.Tyr580His, XP_047294283.1:p.Tyr575His, NP_001309849.1:p.Tyr575His, NP_001374689.1:p.Tyr575His, NP_001374694.1:p.Tyr575His, NP_001309847.1:p.Tyr575His, NP_001374688.1:p.Tyr598His, NP_001309844.1:p.Tyr575His, NP_001309842.1:p.Tyr575His, NP_001374696.1:p.Tyr575His, NP_001374700.1:p.Tyr575His, NP_001374693.1:p.Tyr575His, NP_001309846.1:p.Tyr575His, NP_001309845.1:p.Tyr575His, NP_001309841.1:p.Tyr544His, NP_001374692.1:p.Tyr575His, NP_001374701.1:p.Tyr567His, NP_001374697.1:p.Tyr575His, XP_047294291.1:p.Tyr544His, NP_001374702.1:p.Tyr544His, XP_047294292.1:p.Tyr541His

                                16.

                                rs1463686091 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  19:36718999 (GRCh38)
                                  19:37209901 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:36718998:A:G
                                  Gene:
                                  ZNF567 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000015/4 (TOPMED)
                                  HGVS:
                                  NC_000019.10:g.36718999A>G, NC_000019.9:g.37209901A>G, NM_152603.5:c.182A>G, NM_152603.4:c.182A>G, NM_152603.3:c.182A>G, NM_152603.2:c.182A>G, NM_001363651.3:c.182A>G, NM_001363651.2:c.182A>G, NM_001363651.1:c.182A>G, NM_001300979.2:c.275A>G, NM_001300979.1:c.275A>G, NM_001322911.2:c.182A>G, NM_001322911.1:c.182A>G, NM_001387762.1:c.275A>G, NM_001387761.1:c.275A>G, XM_047438320.1:c.290A>G, XM_047438329.1:c.290A>G, XM_047438330.1:c.275A>G, XM_047438331.1:c.275A>G, XM_047438332.1:c.290A>G, XM_047438323.1:c.290A>G, XM_047438334.1:c.275A>G, XM_047438324.1:c.290A>G, XM_047438328.1:c.275A>G, NM_001387769.1:c.275A>G, XM_047438322.1:c.290A>G, XM_047438333.1:c.275A>G, NM_001387766.1:c.275A>G, XM_047438326.1:c.275A>G, NM_001387770.1:c.275A>G, NM_001322914.1:c.275A>G, NM_001322919.1:c.275A>G, XM_047438321.1:c.290A>G, XM_047438325.1:c.290A>G, XM_047438327.1:c.275A>G, NM_001322920.1:c.275A>G, NM_001387760.1:c.275A>G, NM_001387765.1:c.275A>G, NM_001322918.1:c.275A>G, NM_001387759.1:c.344A>G, NM_001322915.1:c.275A>G, NM_001322913.1:c.275A>G, NM_001387767.1:c.275A>G, NM_001387771.1:c.275A>G, NM_001387764.1:c.275A>G, NM_001322917.1:c.275A>G, NM_001322916.1:c.275A>G, NM_001322912.1:c.182A>G, NM_001387763.1:c.275A>G, NM_001387772.1:c.251A>G, NM_001387768.1:c.275A>G, XM_047438335.1:c.182A>G, NM_001387773.1:c.182A>G, XM_047438336.1:c.173A>G, NP_689816.2:p.Glu61Gly, NP_001350580.1:p.Glu61Gly, NP_001287908.1:p.Glu92Gly, NP_001309840.1:p.Glu61Gly, NP_001374691.1:p.Glu92Gly, NP_001374690.1:p.Glu92Gly, XP_047294276.1:p.Glu97Gly, XP_047294285.1:p.Glu97Gly, XP_047294286.1:p.Glu92Gly, XP_047294287.1:p.Glu92Gly, XP_047294288.1:p.Glu97Gly, XP_047294279.1:p.Glu97Gly, XP_047294290.1:p.Glu92Gly, XP_047294280.1:p.Glu97Gly, XP_047294284.1:p.Glu92Gly, NP_001374698.1:p.Glu92Gly, XP_047294278.1:p.Glu97Gly, XP_047294289.1:p.Glu92Gly, NP_001374695.1:p.Glu92Gly, XP_047294282.1:p.Glu92Gly, NP_001374699.1:p.Glu92Gly, NP_001309843.1:p.Glu92Gly, NP_001309848.1:p.Glu92Gly, XP_047294277.1:p.Glu97Gly, XP_047294281.1:p.Glu97Gly, XP_047294283.1:p.Glu92Gly, NP_001309849.1:p.Glu92Gly, NP_001374689.1:p.Glu92Gly, NP_001374694.1:p.Glu92Gly, NP_001309847.1:p.Glu92Gly, NP_001374688.1:p.Glu115Gly, NP_001309844.1:p.Glu92Gly, NP_001309842.1:p.Glu92Gly, NP_001374696.1:p.Glu92Gly, NP_001374700.1:p.Glu92Gly, NP_001374693.1:p.Glu92Gly, NP_001309846.1:p.Glu92Gly, NP_001309845.1:p.Glu92Gly, NP_001309841.1:p.Glu61Gly, NP_001374692.1:p.Glu92Gly, NP_001374701.1:p.Glu84Gly, NP_001374697.1:p.Glu92Gly, XP_047294291.1:p.Glu61Gly, NP_001374702.1:p.Glu61Gly, XP_047294292.1:p.Glu58Gly

                                  17.

                                  rs1459363532 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    19:36719114 (GRCh38)
                                    19:37210016 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:36719113:A:G
                                    Gene:
                                    ZNF567 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000019.10:g.36719114A>G, NC_000019.9:g.37210016A>G, NM_152603.5:c.297A>G, NM_152603.4:c.297A>G, NM_152603.3:c.297A>G, NM_152603.2:c.297A>G, NM_001363651.3:c.297A>G, NM_001363651.2:c.297A>G, NM_001363651.1:c.297A>G, NM_001300979.2:c.390A>G, NM_001300979.1:c.390A>G, NM_001322911.2:c.297A>G, NM_001322911.1:c.297A>G, NM_001387762.1:c.390A>G, NM_001387761.1:c.390A>G, XM_047438320.1:c.405A>G, XM_047438329.1:c.405A>G, XM_047438330.1:c.390A>G, XM_047438331.1:c.390A>G, XM_047438332.1:c.405A>G, XM_047438323.1:c.405A>G, XM_047438334.1:c.390A>G, XM_047438324.1:c.405A>G, XM_047438328.1:c.390A>G, NM_001387769.1:c.390A>G, XM_047438322.1:c.405A>G, XM_047438333.1:c.390A>G, NM_001387766.1:c.390A>G, XM_047438326.1:c.390A>G, NM_001387770.1:c.390A>G, NM_001322914.1:c.390A>G, NM_001322919.1:c.390A>G, XM_047438321.1:c.405A>G, XM_047438325.1:c.405A>G, XM_047438327.1:c.390A>G, NM_001322920.1:c.390A>G, NM_001387760.1:c.390A>G, NM_001387765.1:c.390A>G, NM_001322918.1:c.390A>G, NM_001387759.1:c.459A>G, NM_001322915.1:c.390A>G, NM_001322913.1:c.390A>G, NM_001387767.1:c.390A>G, NM_001387771.1:c.390A>G, NM_001387764.1:c.390A>G, NM_001322917.1:c.390A>G, NM_001322916.1:c.390A>G, NM_001322912.1:c.297A>G, NM_001387763.1:c.390A>G, NM_001387772.1:c.366A>G, NM_001387768.1:c.390A>G, XM_047438335.1:c.297A>G, NM_001387773.1:c.297A>G, XM_047438336.1:c.288A>G

                                    18.

                                    rs1458903699 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      19:36720625 (GRCh38)
                                      19:37211527 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:36720624:T:A
                                      Gene:
                                      ZNF567 (Varview)
                                      Functional Consequence:
                                      intron_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000019.10:g.36720625T>A, NC_000019.9:g.37211527T>A, NM_152603.5:c.1808T>A, NM_152603.4:c.1808T>A, NM_152603.3:c.1808T>A, NM_152603.2:c.1808T>A, NM_001300979.2:c.1901T>A, NM_001300979.1:c.1901T>A, NM_001322911.2:c.1808T>A, NM_001322911.1:c.1808T>A, NM_001387762.1:c.1901T>A, NM_001387761.1:c.1901T>A, XM_047438320.1:c.1916T>A, XM_047438323.1:c.1916T>A, XM_047438324.1:c.1916T>A, XM_047438328.1:c.1901T>A, NM_001387769.1:c.1901T>A, XM_047438322.1:c.1916T>A, NM_001387766.1:c.1901T>A, XM_047438326.1:c.1901T>A, NM_001387770.1:c.1901T>A, NM_001322914.1:c.1901T>A, NM_001322919.1:c.1901T>A, XM_047438321.1:c.1916T>A, XM_047438325.1:c.1916T>A, XM_047438327.1:c.1901T>A, NM_001322920.1:c.1901T>A, NM_001387760.1:c.1901T>A, NM_001387765.1:c.1901T>A, NM_001322918.1:c.1901T>A, NM_001387759.1:c.1970T>A, NM_001322915.1:c.1901T>A, NM_001322913.1:c.1901T>A, NM_001387767.1:c.1901T>A, NM_001387771.1:c.1901T>A, NM_001387764.1:c.1901T>A, NM_001322917.1:c.1901T>A, NM_001322916.1:c.1901T>A, NM_001322912.1:c.1808T>A, NM_001387763.1:c.1901T>A, NM_001387772.1:c.1877T>A, NM_001387768.1:c.1901T>A, XM_047438335.1:c.1808T>A, NM_001387773.1:c.1808T>A, XM_047438336.1:c.1799T>A, NP_689816.2:p.Val603Asp, NP_001287908.1:p.Val634Asp, NP_001309840.1:p.Val603Asp, NP_001374691.1:p.Val634Asp, NP_001374690.1:p.Val634Asp, XP_047294276.1:p.Val639Asp, XP_047294279.1:p.Val639Asp, XP_047294280.1:p.Val639Asp, XP_047294284.1:p.Val634Asp, NP_001374698.1:p.Val634Asp, XP_047294278.1:p.Val639Asp, NP_001374695.1:p.Val634Asp, XP_047294282.1:p.Val634Asp, NP_001374699.1:p.Val634Asp, NP_001309843.1:p.Val634Asp, NP_001309848.1:p.Val634Asp, XP_047294277.1:p.Val639Asp, XP_047294281.1:p.Val639Asp, XP_047294283.1:p.Val634Asp, NP_001309849.1:p.Val634Asp, NP_001374689.1:p.Val634Asp, NP_001374694.1:p.Val634Asp, NP_001309847.1:p.Val634Asp, NP_001374688.1:p.Val657Asp, NP_001309844.1:p.Val634Asp, NP_001309842.1:p.Val634Asp, NP_001374696.1:p.Val634Asp, NP_001374700.1:p.Val634Asp, NP_001374693.1:p.Val634Asp, NP_001309846.1:p.Val634Asp, NP_001309845.1:p.Val634Asp, NP_001309841.1:p.Val603Asp, NP_001374692.1:p.Val634Asp, NP_001374701.1:p.Val626Asp, NP_001374697.1:p.Val634Asp, XP_047294291.1:p.Val603Asp, NP_001374702.1:p.Val603Asp, XP_047294292.1:p.Val600Asp

                                      19.

                                      rs1458172577 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        19:36719774 (GRCh38)
                                        19:37210676 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:36719773:A:T
                                        Gene:
                                        ZNF567 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000019.10:g.36719774A>T, NC_000019.9:g.37210676A>T, NM_152603.5:c.957A>T, NM_152603.4:c.957A>T, NM_152603.3:c.957A>T, NM_152603.2:c.957A>T, NM_001363651.3:c.957A>T, NM_001363651.2:c.957A>T, NM_001363651.1:c.957A>T, NM_001300979.2:c.1050A>T, NM_001300979.1:c.1050A>T, NM_001322911.2:c.957A>T, NM_001322911.1:c.957A>T, NM_001387762.1:c.1050A>T, NM_001387761.1:c.1050A>T, XM_047438320.1:c.1065A>T, XM_047438329.1:c.1065A>T, XM_047438330.1:c.1050A>T, XM_047438331.1:c.1050A>T, XM_047438332.1:c.1065A>T, XM_047438323.1:c.1065A>T, XM_047438334.1:c.1050A>T, XM_047438324.1:c.1065A>T, XM_047438328.1:c.1050A>T, NM_001387769.1:c.1050A>T, XM_047438322.1:c.1065A>T, XM_047438333.1:c.1050A>T, NM_001387766.1:c.1050A>T, XM_047438326.1:c.1050A>T, NM_001387770.1:c.1050A>T, NM_001322914.1:c.1050A>T, NM_001322919.1:c.1050A>T, XM_047438321.1:c.1065A>T, XM_047438325.1:c.1065A>T, XM_047438327.1:c.1050A>T, NM_001322920.1:c.1050A>T, NM_001387760.1:c.1050A>T, NM_001387765.1:c.1050A>T, NM_001322918.1:c.1050A>T, NM_001387759.1:c.1119A>T, NM_001322915.1:c.1050A>T, NM_001322913.1:c.1050A>T, NM_001387767.1:c.1050A>T, NM_001387771.1:c.1050A>T, NM_001387764.1:c.1050A>T, NM_001322917.1:c.1050A>T, NM_001322916.1:c.1050A>T, NM_001322912.1:c.957A>T, NM_001387763.1:c.1050A>T, NM_001387772.1:c.1026A>T, NM_001387768.1:c.1050A>T, XM_047438335.1:c.957A>T, NM_001387773.1:c.957A>T, XM_047438336.1:c.948A>T

                                        20.

                                        rs1451067927 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          19:36719027 (GRCh38)
                                          19:37209929 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:36719026:C:T
                                          Gene:
                                          ZNF567 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:
                                          NC_000019.10:g.36719027C>T, NC_000019.9:g.37209929C>T, NM_152603.5:c.210C>T, NM_152603.4:c.210C>T, NM_152603.3:c.210C>T, NM_152603.2:c.210C>T, NM_001363651.3:c.210C>T, NM_001363651.2:c.210C>T, NM_001363651.1:c.210C>T, NM_001300979.2:c.303C>T, NM_001300979.1:c.303C>T, NM_001322911.2:c.210C>T, NM_001322911.1:c.210C>T, NM_001387762.1:c.303C>T, NM_001387761.1:c.303C>T, XM_047438320.1:c.318C>T, XM_047438329.1:c.318C>T, XM_047438330.1:c.303C>T, XM_047438331.1:c.303C>T, XM_047438332.1:c.318C>T, XM_047438323.1:c.318C>T, XM_047438334.1:c.303C>T, XM_047438324.1:c.318C>T, XM_047438328.1:c.303C>T, NM_001387769.1:c.303C>T, XM_047438322.1:c.318C>T, XM_047438333.1:c.303C>T, NM_001387766.1:c.303C>T, XM_047438326.1:c.303C>T, NM_001387770.1:c.303C>T, NM_001322914.1:c.303C>T, NM_001322919.1:c.303C>T, XM_047438321.1:c.318C>T, XM_047438325.1:c.318C>T, XM_047438327.1:c.303C>T, NM_001322920.1:c.303C>T, NM_001387760.1:c.303C>T, NM_001387765.1:c.303C>T, NM_001322918.1:c.303C>T, NM_001387759.1:c.372C>T, NM_001322915.1:c.303C>T, NM_001322913.1:c.303C>T, NM_001387767.1:c.303C>T, NM_001387771.1:c.303C>T, NM_001387764.1:c.303C>T, NM_001322917.1:c.303C>T, NM_001322916.1:c.303C>T, NM_001322912.1:c.210C>T, NM_001387763.1:c.303C>T, NM_001387772.1:c.279C>T, NM_001387768.1:c.303C>T, XM_047438335.1:c.210C>T, NM_001387773.1:c.210C>T, XM_047438336.1:c.201C>T

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