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Items: 1 to 20 of 542

1.

rs1490235884 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    7:156676623 (GRCh38)
    7:156469317 (GRCh37)
    Canonical SPDI:
    NC_000007.14:156676622:T:G
    Gene:
    LMBR1 (Varview), RNF32 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000007.14:g.156676623T>G, NC_000007.13:g.156469317T>G, NG_009240.2:g.221586A>C, NR_146959.2:n.4276A>C, NR_146959.1:n.4301A>C, XM_005249522.6:c.1057T>G, XM_005249522.5:c.1057T>G, XM_005249522.4:c.1057T>G, XM_005249522.3:c.1057T>G, XM_005249522.2:c.1057T>G, XM_005249522.1:c.1057T>G, XM_011515808.4:c.1057T>G, XM_011515808.3:c.1057T>G, XM_011515808.2:c.1057T>G, XM_011515808.1:c.1057T>G, XM_011515805.4:c.1057T>G, XM_011515805.3:c.1057T>G, XM_011515805.2:c.1057T>G, XM_011515805.1:c.1057T>G, XM_011515809.4:c.1057T>G, XM_011515809.3:c.1057T>G, XM_011515809.2:c.1057T>G, XM_011515809.1:c.1057T>G, XM_011515806.4:c.1057T>G, XM_011515806.3:c.1057T>G, XM_011515806.2:c.1057T>G, XM_011515806.1:c.1057T>G, XM_011515804.4:c.1057T>G, XM_011515804.3:c.1057T>G, XM_011515804.2:c.1057T>G, XM_011515804.1:c.1057T>G, XM_011515812.4:c.1057T>G, XM_011515812.3:c.1057T>G, XM_011515812.2:c.1057T>G, XM_011515812.1:c.1057T>G, XM_011515807.4:c.1057T>G, XM_011515807.3:c.1057T>G, XM_011515807.2:c.1057T>G, XM_011515807.1:c.1057T>G, NM_030936.4:c.1057T>G, NM_030936.3:c.1057T>G, XM_011515810.3:c.1057T>G, XM_011515810.2:c.1057T>G, XM_011515810.1:c.1057T>G, XM_011515811.3:c.1057T>G, XM_011515811.2:c.1057T>G, XM_011515811.1:c.1057T>G, XM_011515813.3:c.1018T>G, XM_011515813.2:c.1018T>G, XM_011515813.1:c.1018T>G, NM_001308273.2:c.*248T>G, NM_001308273.1:c.*248T>G, NM_001184996.2:c.1057T>G, NM_001184996.1:c.1057T>G, XR_007060136.1:n.5698A>C, XR_007060133.1:n.4724A>C, XR_007060132.1:n.4458A>C, XR_007060130.1:n.4399A>C, XR_007060134.1:n.4335A>C, XR_007060131.1:n.4303A>C, XR_007060135.1:n.4180A>C, XR_007060137.1:n.3794A>C, XM_047419894.1:c.1057T>G, XM_047419899.1:c.*248T>G, XM_047419897.1:c.1057T>G, XM_047419896.1:c.1057T>G, XM_047419895.1:c.1057T>G, XM_047419898.1:c.1018T>G, NM_001184997.1:c.1057T>G, NR_131778.1:n.1241T>G, XP_005249579.1:p.Ser353Ala, XP_011514110.1:p.Ser353Ala, XP_011514107.1:p.Ser353Ala, XP_011514111.1:p.Ser353Ala, XP_011514108.1:p.Ser353Ala, XP_011514106.1:p.Ser353Ala, XP_011514114.1:p.Ser353Ala, XP_011514109.1:p.Ser353Ala, NP_112198.1:p.Ser353Ala, XP_011514112.1:p.Ser353Ala, XP_011514113.1:p.Ser353Ala, XP_011514115.1:p.Ser340Ala, NP_001171925.1:p.Ser353Ala, XP_047275850.1:p.Ser353Ala, XP_047275853.1:p.Ser353Ala, XP_047275852.1:p.Ser353Ala, XP_047275851.1:p.Ser353Ala, XP_047275854.1:p.Ser340Ala, NP_001171926.1:p.Ser353Ala

    2.

    rs1489671958 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      7:156677011 (GRCh38)
      7:156469705 (GRCh37)
      Canonical SPDI:
      NC_000007.14:156677010:T:A
      Gene:
      LMBR1 (Varview), RNF32 (Varview)
      Functional Consequence:
      3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000007.14:g.156677011T>A, NC_000007.13:g.156469705T>A, NG_009240.2:g.221198A>T, XM_005249522.6:c.*356T>A, XM_005249522.5:c.*356T>A, XM_005249522.4:c.*356T>A, XM_005249522.3:c.*356T>A, XM_005249522.2:c.*356T>A, XM_005249522.1:c.*356T>A, XM_011515808.4:c.*356T>A, XM_011515808.3:c.*356T>A, XM_011515808.2:c.*356T>A, XM_011515808.1:c.*356T>A, XM_011515805.4:c.*356T>A, XM_011515805.3:c.*356T>A, XM_011515805.2:c.*356T>A, XM_011515805.1:c.*356T>A, XM_011515809.4:c.*356T>A, XM_011515809.3:c.*356T>A, XM_011515809.2:c.*356T>A, XM_011515809.1:c.*356T>A, XM_011515806.4:c.*356T>A, XM_011515806.3:c.*356T>A, XM_011515806.2:c.*356T>A, XM_011515806.1:c.*356T>A, XM_011515804.4:c.*356T>A, XM_011515804.3:c.*356T>A, XM_011515804.2:c.*356T>A, XM_011515804.1:c.*356T>A, XM_011515812.4:c.*356T>A, XM_011515812.3:c.*356T>A, XM_011515812.2:c.*356T>A, XM_011515812.1:c.*356T>A, XM_011515807.4:c.*356T>A, XM_011515807.3:c.*356T>A, XM_011515807.2:c.*356T>A, XM_011515807.1:c.*356T>A, NM_030936.4:c.*356T>A, NM_030936.3:c.*356T>A, XM_011515810.3:c.*356T>A, XM_011515810.2:c.*356T>A, XM_011515810.1:c.*356T>A, XM_011515811.3:c.*356T>A, XM_011515811.2:c.*356T>A, XM_011515811.1:c.*356T>A, XM_011515813.3:c.*356T>A, XM_011515813.2:c.*356T>A, XM_011515813.1:c.*356T>A, NM_001308273.2:c.*636T>A, NM_001308273.1:c.*636T>A, NM_001184996.2:c.*356T>A, NM_001184996.1:c.*356T>A, XM_047419894.1:c.*356T>A, XM_047419899.1:c.*636T>A, XM_047419897.1:c.*356T>A, XM_047419896.1:c.*356T>A, XM_047419895.1:c.*356T>A, XM_047419898.1:c.*356T>A, NM_001184997.1:c.*356T>A, NR_131778.1:n.1629T>A

      3.

      rs1488597255 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        7:156676752 (GRCh38)
        7:156469446 (GRCh37)
        Canonical SPDI:
        NC_000007.14:156676751:T:A
        Gene:
        LMBR1 (Varview), RNF32 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000007.14:g.156676752T>A, NC_000007.13:g.156469446T>A, NG_009240.2:g.221457A>T, XM_005249522.6:c.*97T>A, XM_005249522.5:c.*97T>A, XM_005249522.4:c.*97T>A, XM_005249522.3:c.*97T>A, XM_005249522.2:c.*97T>A, XM_005249522.1:c.*97T>A, XM_011515808.4:c.*97T>A, XM_011515808.3:c.*97T>A, XM_011515808.2:c.*97T>A, XM_011515808.1:c.*97T>A, XM_011515805.4:c.*97T>A, XM_011515805.3:c.*97T>A, XM_011515805.2:c.*97T>A, XM_011515805.1:c.*97T>A, XM_011515809.4:c.*97T>A, XM_011515809.3:c.*97T>A, XM_011515809.2:c.*97T>A, XM_011515809.1:c.*97T>A, XM_011515806.4:c.*97T>A, XM_011515806.3:c.*97T>A, XM_011515806.2:c.*97T>A, XM_011515806.1:c.*97T>A, XM_011515804.4:c.*97T>A, XM_011515804.3:c.*97T>A, XM_011515804.2:c.*97T>A, XM_011515804.1:c.*97T>A, XM_011515812.4:c.*97T>A, XM_011515812.3:c.*97T>A, XM_011515812.2:c.*97T>A, XM_011515812.1:c.*97T>A, XM_011515807.4:c.*97T>A, XM_011515807.3:c.*97T>A, XM_011515807.2:c.*97T>A, XM_011515807.1:c.*97T>A, NM_030936.4:c.*97T>A, NM_030936.3:c.*97T>A, XM_011515810.3:c.*97T>A, XM_011515810.2:c.*97T>A, XM_011515810.1:c.*97T>A, XM_011515811.3:c.*97T>A, XM_011515811.2:c.*97T>A, XM_011515811.1:c.*97T>A, XM_011515813.3:c.*97T>A, XM_011515813.2:c.*97T>A, XM_011515813.1:c.*97T>A, NM_001308273.2:c.*377T>A, NM_001308273.1:c.*377T>A, NM_001184996.2:c.*97T>A, NM_001184996.1:c.*97T>A, XM_047419894.1:c.*97T>A, XM_047419899.1:c.*377T>A, XM_047419897.1:c.*97T>A, XM_047419896.1:c.*97T>A, XM_047419895.1:c.*97T>A, XM_047419898.1:c.*97T>A, NM_001184997.1:c.*97T>A, NR_131778.1:n.1370T>A

        4.

        rs1485756047 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          7:156658473 (GRCh38)
          7:156451167 (GRCh37)
          Canonical SPDI:
          NC_000007.14:156658472:A:G
          Gene:
          RNF32 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000007.14:g.156658473A>G, NC_000007.13:g.156451167A>G, XM_005249522.6:c.587A>G, XM_005249522.5:c.587A>G, XM_005249522.4:c.587A>G, XM_005249522.3:c.587A>G, XM_005249522.2:c.587A>G, XM_005249522.1:c.587A>G, XM_011515808.4:c.587A>G, XM_011515808.3:c.587A>G, XM_011515808.2:c.587A>G, XM_011515808.1:c.587A>G, XM_011515805.4:c.587A>G, XM_011515805.3:c.587A>G, XM_011515805.2:c.587A>G, XM_011515805.1:c.587A>G, XM_011515809.4:c.587A>G, XM_011515809.3:c.587A>G, XM_011515809.2:c.587A>G, XM_011515809.1:c.587A>G, XM_011515806.4:c.587A>G, XM_011515806.3:c.587A>G, XM_011515806.2:c.587A>G, XM_011515806.1:c.587A>G, XM_011515804.4:c.587A>G, XM_011515804.3:c.587A>G, XM_011515804.2:c.587A>G, XM_011515804.1:c.587A>G, XM_011515812.4:c.587A>G, XM_011515812.3:c.587A>G, XM_011515812.2:c.587A>G, XM_011515812.1:c.587A>G, XM_011515807.4:c.587A>G, XM_011515807.3:c.587A>G, XM_011515807.2:c.587A>G, XM_011515807.1:c.587A>G, NM_030936.4:c.587A>G, NM_030936.3:c.587A>G, XM_011515810.3:c.587A>G, XM_011515810.2:c.587A>G, XM_011515810.1:c.587A>G, XM_011515811.3:c.587A>G, XM_011515811.2:c.587A>G, XM_011515811.1:c.587A>G, XM_011515813.3:c.548A>G, XM_011515813.2:c.548A>G, XM_011515813.1:c.548A>G, XM_024446666.2:c.587A>G, XM_024446666.1:c.587A>G, XM_017011755.2:c.587A>G, XM_017011755.1:c.587A>G, NM_001308273.2:c.587A>G, NM_001308273.1:c.587A>G, NM_001184996.2:c.587A>G, NM_001184996.1:c.587A>G, XM_047419894.1:c.587A>G, XM_047419900.1:c.587A>G, XM_047419903.1:c.587A>G, XM_047419901.1:c.587A>G, XM_047419902.1:c.587A>G, XR_007059985.1:n.839A>G, XM_047419904.1:c.587A>G, NM_001308274.1:c.587A>G, XM_047419899.1:c.587A>G, XM_047419897.1:c.587A>G, XM_047419896.1:c.587A>G, XM_047419895.1:c.587A>G, XM_047419898.1:c.548A>G, NM_001184997.1:c.587A>G, NR_131778.1:n.771A>G, XR_007059986.1:n.950A>G, XM_047419905.1:c.*55A>G, XP_005249579.1:p.Tyr196Cys, XP_011514110.1:p.Tyr196Cys, XP_011514107.1:p.Tyr196Cys, XP_011514111.1:p.Tyr196Cys, XP_011514108.1:p.Tyr196Cys, XP_011514106.1:p.Tyr196Cys, XP_011514114.1:p.Tyr196Cys, XP_011514109.1:p.Tyr196Cys, NP_112198.1:p.Tyr196Cys, XP_011514112.1:p.Tyr196Cys, XP_011514113.1:p.Tyr196Cys, XP_011514115.1:p.Tyr183Cys, XP_024302434.1:p.Tyr196Cys, XP_016867244.1:p.Tyr196Cys, NP_001295202.1:p.Tyr196Cys, NP_001171925.1:p.Tyr196Cys, XP_047275850.1:p.Tyr196Cys, XP_047275856.1:p.Tyr196Cys, XP_047275859.1:p.Tyr196Cys, XP_047275857.1:p.Tyr196Cys, XP_047275858.1:p.Tyr196Cys, XP_047275860.1:p.Tyr196Cys, NP_001295203.1:p.Tyr196Cys, XP_047275855.1:p.Tyr196Cys, XP_047275853.1:p.Tyr196Cys, XP_047275852.1:p.Tyr196Cys, XP_047275851.1:p.Tyr196Cys, XP_047275854.1:p.Tyr183Cys, NP_001171926.1:p.Tyr196Cys

          5.

          rs1484399923 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            7:156675773 (GRCh38)
            7:156468467 (GRCh37)
            Canonical SPDI:
            NC_000007.14:156675772:C:G,NC_000007.14:156675772:C:T
            Gene:
            LMBR1 (Varview), RNF32 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
            HGVS:
            NC_000007.14:g.156675773C>G, NC_000007.14:g.156675773C>T, NC_000007.13:g.156468467C>G, NC_000007.13:g.156468467C>T, NG_009240.2:g.222436G>C, NG_009240.2:g.222436G>A, XM_005249522.6:c.762C>G, XM_005249522.6:c.762C>T, XM_005249522.5:c.762C>G, XM_005249522.5:c.762C>T, XM_005249522.4:c.762C>G, XM_005249522.4:c.762C>T, XM_005249522.3:c.762C>G, XM_005249522.3:c.762C>T, XM_005249522.2:c.762C>G, XM_005249522.2:c.762C>T, XM_005249522.1:c.762C>G, XM_005249522.1:c.762C>T, XM_011515808.4:c.762C>G, XM_011515808.4:c.762C>T, XM_011515808.3:c.762C>G, XM_011515808.3:c.762C>T, XM_011515808.2:c.762C>G, XM_011515808.2:c.762C>T, XM_011515808.1:c.762C>G, XM_011515808.1:c.762C>T, XM_011515805.4:c.762C>G, XM_011515805.4:c.762C>T, XM_011515805.3:c.762C>G, XM_011515805.3:c.762C>T, XM_011515805.2:c.762C>G, XM_011515805.2:c.762C>T, XM_011515805.1:c.762C>G, XM_011515805.1:c.762C>T, XM_011515809.4:c.762C>G, XM_011515809.4:c.762C>T, XM_011515809.3:c.762C>G, XM_011515809.3:c.762C>T, XM_011515809.2:c.762C>G, XM_011515809.2:c.762C>T, XM_011515809.1:c.762C>G, XM_011515809.1:c.762C>T, XM_011515806.4:c.762C>G, XM_011515806.4:c.762C>T, XM_011515806.3:c.762C>G, XM_011515806.3:c.762C>T, XM_011515806.2:c.762C>G, XM_011515806.2:c.762C>T, XM_011515806.1:c.762C>G, XM_011515806.1:c.762C>T, XM_011515804.4:c.762C>G, XM_011515804.4:c.762C>T, XM_011515804.3:c.762C>G, XM_011515804.3:c.762C>T, XM_011515804.2:c.762C>G, XM_011515804.2:c.762C>T, XM_011515804.1:c.762C>G, XM_011515804.1:c.762C>T, XM_011515812.4:c.762C>G, XM_011515812.4:c.762C>T, XM_011515812.3:c.762C>G, XM_011515812.3:c.762C>T, XM_011515812.2:c.762C>G, XM_011515812.2:c.762C>T, XM_011515812.1:c.762C>G, XM_011515812.1:c.762C>T, XM_011515807.4:c.762C>G, XM_011515807.4:c.762C>T, XM_011515807.3:c.762C>G, XM_011515807.3:c.762C>T, XM_011515807.2:c.762C>G, XM_011515807.2:c.762C>T, XM_011515807.1:c.762C>G, XM_011515807.1:c.762C>T, NM_030936.4:c.762C>G, NM_030936.4:c.762C>T, NM_030936.3:c.762C>G, NM_030936.3:c.762C>T, XM_011515810.3:c.762C>G, XM_011515810.3:c.762C>T, XM_011515810.2:c.762C>G, XM_011515810.2:c.762C>T, XM_011515810.1:c.762C>G, XM_011515810.1:c.762C>T, XM_011515811.3:c.762C>G, XM_011515811.3:c.762C>T, XM_011515811.2:c.762C>G, XM_011515811.2:c.762C>T, XM_011515811.1:c.762C>G, XM_011515811.1:c.762C>T, XM_011515813.3:c.723C>G, XM_011515813.3:c.723C>T, XM_011515813.2:c.723C>G, XM_011515813.2:c.723C>T, XM_011515813.1:c.723C>G, XM_011515813.1:c.723C>T, NM_001308273.2:c.762C>G, NM_001308273.2:c.762C>T, NM_001308273.1:c.762C>G, NM_001308273.1:c.762C>T, NM_001184996.2:c.762C>G, NM_001184996.2:c.762C>T, NM_001184996.1:c.762C>G, NM_001184996.1:c.762C>T, XM_047419894.1:c.762C>G, XM_047419894.1:c.762C>T, XM_047419899.1:c.762C>G, XM_047419899.1:c.762C>T, XM_047419897.1:c.762C>G, XM_047419897.1:c.762C>T, XM_047419896.1:c.762C>G, XM_047419896.1:c.762C>T, XM_047419895.1:c.762C>G, XM_047419895.1:c.762C>T, XM_047419898.1:c.723C>G, XM_047419898.1:c.723C>T, NM_001184997.1:c.762C>G, NM_001184997.1:c.762C>T, NR_131778.1:n.946C>G, NR_131778.1:n.946C>T, XR_007059986.1:n.1125C>G, XR_007059986.1:n.1125C>T, XP_005249579.1:p.Cys254Trp, XP_011514110.1:p.Cys254Trp, XP_011514107.1:p.Cys254Trp, XP_011514111.1:p.Cys254Trp, XP_011514108.1:p.Cys254Trp, XP_011514106.1:p.Cys254Trp, XP_011514114.1:p.Cys254Trp, XP_011514109.1:p.Cys254Trp, NP_112198.1:p.Cys254Trp, XP_011514112.1:p.Cys254Trp, XP_011514113.1:p.Cys254Trp, XP_011514115.1:p.Cys241Trp, NP_001295202.1:p.Cys254Trp, NP_001171925.1:p.Cys254Trp, XP_047275850.1:p.Cys254Trp, XP_047275855.1:p.Cys254Trp, XP_047275853.1:p.Cys254Trp, XP_047275852.1:p.Cys254Trp, XP_047275851.1:p.Cys254Trp, XP_047275854.1:p.Cys241Trp, NP_001171926.1:p.Cys254Trp

            6.

            rs1482159530 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              7:156675719 (GRCh38)
              7:156468413 (GRCh37)
              Canonical SPDI:
              NC_000007.14:156675718:C:A
              Gene:
              LMBR1 (Varview), RNF32 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000007.14:g.156675719C>A, NC_000007.13:g.156468413C>A, NG_009240.2:g.222490G>T, XM_005249522.6:c.708C>A, XM_005249522.5:c.708C>A, XM_005249522.4:c.708C>A, XM_005249522.3:c.708C>A, XM_005249522.2:c.708C>A, XM_005249522.1:c.708C>A, XM_011515808.4:c.708C>A, XM_011515808.3:c.708C>A, XM_011515808.2:c.708C>A, XM_011515808.1:c.708C>A, XM_011515805.4:c.708C>A, XM_011515805.3:c.708C>A, XM_011515805.2:c.708C>A, XM_011515805.1:c.708C>A, XM_011515809.4:c.708C>A, XM_011515809.3:c.708C>A, XM_011515809.2:c.708C>A, XM_011515809.1:c.708C>A, XM_011515806.4:c.708C>A, XM_011515806.3:c.708C>A, XM_011515806.2:c.708C>A, XM_011515806.1:c.708C>A, XM_011515804.4:c.708C>A, XM_011515804.3:c.708C>A, XM_011515804.2:c.708C>A, XM_011515804.1:c.708C>A, XM_011515812.4:c.708C>A, XM_011515812.3:c.708C>A, XM_011515812.2:c.708C>A, XM_011515812.1:c.708C>A, XM_011515807.4:c.708C>A, XM_011515807.3:c.708C>A, XM_011515807.2:c.708C>A, XM_011515807.1:c.708C>A, NM_030936.4:c.708C>A, NM_030936.3:c.708C>A, XM_011515810.3:c.708C>A, XM_011515810.2:c.708C>A, XM_011515810.1:c.708C>A, XM_011515811.3:c.708C>A, XM_011515811.2:c.708C>A, XM_011515811.1:c.708C>A, XM_011515813.3:c.669C>A, XM_011515813.2:c.669C>A, XM_011515813.1:c.669C>A, NM_001308273.2:c.708C>A, NM_001308273.1:c.708C>A, NM_001184996.2:c.708C>A, NM_001184996.1:c.708C>A, XM_047419894.1:c.708C>A, XM_047419899.1:c.708C>A, XM_047419897.1:c.708C>A, XM_047419896.1:c.708C>A, XM_047419895.1:c.708C>A, XM_047419898.1:c.669C>A, NM_001184997.1:c.708C>A, NR_131778.1:n.892C>A, XR_007059986.1:n.1071C>A

              7.

              rs1480238417 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                7:156676532 (GRCh38)
                7:156469226 (GRCh37)
                Canonical SPDI:
                NC_000007.14:156676531:C:T
                Gene:
                LMBR1 (Varview), RNF32 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0.000047/1 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000007.14:g.156676532C>T, NC_000007.13:g.156469226C>T, NG_009240.2:g.221677G>A, NR_146959.2:n.4367G>A, NR_146959.1:n.4392G>A, XM_005249522.6:c.966C>T, XM_005249522.5:c.966C>T, XM_005249522.4:c.966C>T, XM_005249522.3:c.966C>T, XM_005249522.2:c.966C>T, XM_005249522.1:c.966C>T, XM_011515808.4:c.966C>T, XM_011515808.3:c.966C>T, XM_011515808.2:c.966C>T, XM_011515808.1:c.966C>T, XM_011515805.4:c.966C>T, XM_011515805.3:c.966C>T, XM_011515805.2:c.966C>T, XM_011515805.1:c.966C>T, XM_011515809.4:c.966C>T, XM_011515809.3:c.966C>T, XM_011515809.2:c.966C>T, XM_011515809.1:c.966C>T, XM_011515806.4:c.966C>T, XM_011515806.3:c.966C>T, XM_011515806.2:c.966C>T, XM_011515806.1:c.966C>T, XM_011515804.4:c.966C>T, XM_011515804.3:c.966C>T, XM_011515804.2:c.966C>T, XM_011515804.1:c.966C>T, XM_011515812.4:c.966C>T, XM_011515812.3:c.966C>T, XM_011515812.2:c.966C>T, XM_011515812.1:c.966C>T, XM_011515807.4:c.966C>T, XM_011515807.3:c.966C>T, XM_011515807.2:c.966C>T, XM_011515807.1:c.966C>T, NM_030936.4:c.966C>T, NM_030936.3:c.966C>T, XM_011515810.3:c.966C>T, XM_011515810.2:c.966C>T, XM_011515810.1:c.966C>T, XM_011515811.3:c.966C>T, XM_011515811.2:c.966C>T, XM_011515811.1:c.966C>T, XM_011515813.3:c.927C>T, XM_011515813.2:c.927C>T, XM_011515813.1:c.927C>T, NM_001308273.2:c.*157C>T, NM_001308273.1:c.*157C>T, NM_001184996.2:c.966C>T, NM_001184996.1:c.966C>T, XR_007060136.1:n.5789G>A, XR_007060133.1:n.4815G>A, XR_007060132.1:n.4549G>A, XR_007060130.1:n.4490G>A, XR_007060134.1:n.4426G>A, XR_007060131.1:n.4394G>A, XR_007060135.1:n.4271G>A, XR_007060137.1:n.3885G>A, XM_047419894.1:c.966C>T, XM_047419899.1:c.*157C>T, XM_047419897.1:c.966C>T, XM_047419896.1:c.966C>T, XM_047419895.1:c.966C>T, XM_047419898.1:c.927C>T, NM_001184997.1:c.966C>T, NR_131778.1:n.1150C>T

                8.

                rs1479725220 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAATA>- [Show Flanks]
                  Chromosome:
                  7:156677088 (GRCh38)
                  7:156469782 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:156677083:AATAAAATA:AATA
                  Gene:
                  LMBR1 (Varview), RNF32 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AATA=0./0 (ALFA)
                  -=0.000015/4 (TOPMED)
                  -=0.000021/3 (GnomAD)
                  HGVS:
                  NC_000007.14:g.156677088_156677092del, NC_000007.13:g.156469782_156469786del, NG_009240.2:g.221121_221125del, XM_005249522.6:c.*433_*437del, XM_005249522.5:c.*433_*437del, XM_005249522.4:c.*433_*437del, XM_005249522.3:c.*433_*437del, XM_005249522.2:c.*433_*437del, XM_005249522.1:c.*433_*437del, XM_011515808.4:c.*433_*437del, XM_011515808.3:c.*433_*437del, XM_011515808.2:c.*433_*437del, XM_011515808.1:c.*433_*437del, XM_011515805.4:c.*433_*437del, XM_011515805.3:c.*433_*437del, XM_011515805.2:c.*433_*437del, XM_011515805.1:c.*433_*437del, XM_011515809.4:c.*433_*437del, XM_011515809.3:c.*433_*437del, XM_011515809.2:c.*433_*437del, XM_011515809.1:c.*433_*437del, XM_011515806.4:c.*433_*437del, XM_011515806.3:c.*433_*437del, XM_011515806.2:c.*433_*437del, XM_011515806.1:c.*433_*437del, XM_011515804.4:c.*433_*437del, XM_011515804.3:c.*433_*437del, XM_011515804.2:c.*433_*437del, XM_011515804.1:c.*433_*437del, XM_011515812.4:c.*433_*437del, XM_011515812.3:c.*433_*437del, XM_011515812.2:c.*433_*437del, XM_011515812.1:c.*433_*437del, XM_011515807.4:c.*433_*437del, XM_011515807.3:c.*433_*437del, XM_011515807.2:c.*433_*437del, XM_011515807.1:c.*433_*437del, NM_030936.4:c.*433_*437del, NM_030936.3:c.*433_*437del, XM_011515810.3:c.*433_*437del, XM_011515810.2:c.*433_*437del, XM_011515810.1:c.*433_*437del, XM_011515811.3:c.*433_*437del, XM_011515811.2:c.*433_*437del, XM_011515811.1:c.*433_*437del, XM_011515813.3:c.*433_*437del, XM_011515813.2:c.*433_*437del, XM_011515813.1:c.*433_*437del, NM_001308273.2:c.*713_*717del, NM_001308273.1:c.*713_*717del, NM_001184996.2:c.*433_*437del, NM_001184996.1:c.*433_*437del, XM_047419894.1:c.*433_*437del, XM_047419899.1:c.*713_*717del, XM_047419897.1:c.*433_*437del, XM_047419896.1:c.*433_*437del, XM_047419895.1:c.*433_*437del, XM_047419898.1:c.*433_*437del, NM_001184997.1:c.*433_*437del, NR_131778.1:n.1706_1710del

                  9.

                  rs1476348277 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    7:156657541 (GRCh38)
                    7:156450235 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:156657540:G:T
                    Gene:
                    RNF32 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000007.14:g.156657541G>T, NC_000007.13:g.156450235G>T, XM_005249522.6:c.418G>T, XM_005249522.5:c.418G>T, XM_005249522.4:c.418G>T, XM_005249522.3:c.418G>T, XM_005249522.2:c.418G>T, XM_005249522.1:c.418G>T, XM_011515808.4:c.418G>T, XM_011515808.3:c.418G>T, XM_011515808.2:c.418G>T, XM_011515808.1:c.418G>T, XM_011515805.4:c.418G>T, XM_011515805.3:c.418G>T, XM_011515805.2:c.418G>T, XM_011515805.1:c.418G>T, XM_011515809.4:c.418G>T, XM_011515809.3:c.418G>T, XM_011515809.2:c.418G>T, XM_011515809.1:c.418G>T, XM_011515806.4:c.418G>T, XM_011515806.3:c.418G>T, XM_011515806.2:c.418G>T, XM_011515806.1:c.418G>T, XM_011515804.4:c.418G>T, XM_011515804.3:c.418G>T, XM_011515804.2:c.418G>T, XM_011515804.1:c.418G>T, XM_011515812.4:c.418G>T, XM_011515812.3:c.418G>T, XM_011515812.2:c.418G>T, XM_011515812.1:c.418G>T, XM_011515807.4:c.418G>T, XM_011515807.3:c.418G>T, XM_011515807.2:c.418G>T, XM_011515807.1:c.418G>T, NM_030936.4:c.418G>T, NM_030936.3:c.418G>T, XM_011515810.3:c.418G>T, XM_011515810.2:c.418G>T, XM_011515810.1:c.418G>T, XM_011515811.3:c.418G>T, XM_011515811.2:c.418G>T, XM_011515811.1:c.418G>T, XM_011515813.3:c.435G>T, XM_011515813.2:c.435G>T, XM_011515813.1:c.435G>T, XM_024446666.2:c.418G>T, XM_024446666.1:c.418G>T, XM_017011755.2:c.418G>T, XM_017011755.1:c.418G>T, NM_001308273.2:c.418G>T, NM_001308273.1:c.418G>T, NM_001184996.2:c.418G>T, NM_001184996.1:c.418G>T, XM_047419894.1:c.418G>T, XM_047419900.1:c.418G>T, XM_047419903.1:c.418G>T, XM_047419901.1:c.418G>T, XM_047419902.1:c.418G>T, XR_007059985.1:n.726G>T, XM_047419904.1:c.418G>T, NM_001308274.1:c.418G>T, XM_047419899.1:c.418G>T, XM_047419897.1:c.418G>T, XM_047419896.1:c.418G>T, XM_047419895.1:c.418G>T, XM_047419898.1:c.435G>T, NM_001184997.1:c.418G>T, NR_131778.1:n.602G>T, XR_007059986.1:n.837G>T, XM_047419905.1:c.435G>T, XP_005249579.1:p.Val140Leu, XP_011514110.1:p.Val140Leu, XP_011514107.1:p.Val140Leu, XP_011514111.1:p.Val140Leu, XP_011514108.1:p.Val140Leu, XP_011514106.1:p.Val140Leu, XP_011514114.1:p.Val140Leu, XP_011514109.1:p.Val140Leu, NP_112198.1:p.Val140Leu, XP_011514112.1:p.Val140Leu, XP_011514113.1:p.Val140Leu, XP_024302434.1:p.Val140Leu, XP_016867244.1:p.Val140Leu, NP_001295202.1:p.Val140Leu, NP_001171925.1:p.Val140Leu, XP_047275850.1:p.Val140Leu, XP_047275856.1:p.Val140Leu, XP_047275859.1:p.Val140Leu, XP_047275857.1:p.Val140Leu, XP_047275858.1:p.Val140Leu, XP_047275860.1:p.Val140Leu, NP_001295203.1:p.Val140Leu, XP_047275855.1:p.Val140Leu, XP_047275853.1:p.Val140Leu, XP_047275852.1:p.Val140Leu, XP_047275851.1:p.Val140Leu, NP_001171926.1:p.Val140Leu

                    10.

                    rs1474155824 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      7:156654621 (GRCh38)
                      7:156447315 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:156654620:C:G
                      Gene:
                      RNF32 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,stop_gained
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000007.14:g.156654621C>G, NC_000007.13:g.156447315C>G, XM_005249522.6:c.320C>G, XM_005249522.5:c.320C>G, XM_005249522.4:c.320C>G, XM_005249522.3:c.320C>G, XM_005249522.2:c.320C>G, XM_005249522.1:c.320C>G, XM_011515808.4:c.320C>G, XM_011515808.3:c.320C>G, XM_011515808.2:c.320C>G, XM_011515808.1:c.320C>G, XM_011515805.4:c.320C>G, XM_011515805.3:c.320C>G, XM_011515805.2:c.320C>G, XM_011515805.1:c.320C>G, XM_011515809.4:c.320C>G, XM_011515809.3:c.320C>G, XM_011515809.2:c.320C>G, XM_011515809.1:c.320C>G, XM_011515806.4:c.320C>G, XM_011515806.3:c.320C>G, XM_011515806.2:c.320C>G, XM_011515806.1:c.320C>G, XM_011515804.4:c.320C>G, XM_011515804.3:c.320C>G, XM_011515804.2:c.320C>G, XM_011515804.1:c.320C>G, XM_011515812.4:c.320C>G, XM_011515812.3:c.320C>G, XM_011515812.2:c.320C>G, XM_011515812.1:c.320C>G, XM_011515807.4:c.320C>G, XM_011515807.3:c.320C>G, XM_011515807.2:c.320C>G, XM_011515807.1:c.320C>G, NM_030936.4:c.320C>G, NM_030936.3:c.320C>G, XM_011515810.3:c.320C>G, XM_011515810.2:c.320C>G, XM_011515810.1:c.320C>G, XM_011515811.3:c.320C>G, XM_011515811.2:c.320C>G, XM_011515811.1:c.320C>G, XM_011515813.3:c.320C>G, XM_011515813.2:c.320C>G, XM_011515813.1:c.320C>G, XM_024446666.2:c.320C>G, XM_024446666.1:c.320C>G, XM_017011755.2:c.320C>G, XM_017011755.1:c.320C>G, NM_001308273.2:c.320C>G, NM_001308273.1:c.320C>G, NM_001184996.2:c.320C>G, NM_001184996.1:c.320C>G, XM_047419894.1:c.320C>G, XM_047419900.1:c.320C>G, XM_047419903.1:c.320C>G, XM_047419901.1:c.320C>G, XM_047419902.1:c.320C>G, XR_007059985.1:n.628C>G, XM_047419904.1:c.320C>G, NM_001308274.1:c.320C>G, XM_047419899.1:c.320C>G, XM_047419897.1:c.320C>G, XM_047419896.1:c.320C>G, XM_047419895.1:c.320C>G, XM_047419898.1:c.320C>G, NM_001184997.1:c.320C>G, NR_131778.1:n.504C>G, XR_007059986.1:n.739C>G, XM_047419905.1:c.320C>G, XP_005249579.1:p.Ser107Ter, XP_011514110.1:p.Ser107Ter, XP_011514107.1:p.Ser107Ter, XP_011514111.1:p.Ser107Ter, XP_011514108.1:p.Ser107Ter, XP_011514106.1:p.Ser107Ter, XP_011514114.1:p.Ser107Ter, XP_011514109.1:p.Ser107Ter, NP_112198.1:p.Ser107Ter, XP_011514112.1:p.Ser107Ter, XP_011514113.1:p.Ser107Ter, XP_011514115.1:p.Ser107Ter, XP_024302434.1:p.Ser107Ter, XP_016867244.1:p.Ser107Ter, NP_001295202.1:p.Ser107Ter, NP_001171925.1:p.Ser107Ter, XP_047275850.1:p.Ser107Ter, XP_047275856.1:p.Ser107Ter, XP_047275859.1:p.Ser107Ter, XP_047275857.1:p.Ser107Ter, XP_047275858.1:p.Ser107Ter, XP_047275860.1:p.Ser107Ter, NP_001295203.1:p.Ser107Ter, XP_047275855.1:p.Ser107Ter, XP_047275853.1:p.Ser107Ter, XP_047275852.1:p.Ser107Ter, XP_047275851.1:p.Ser107Ter, XP_047275854.1:p.Ser107Ter, NP_001171926.1:p.Ser107Ter, XP_047275861.1:p.Ser107Ter

                      11.

                      rs1472553822 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        7:156676866 (GRCh38)
                        7:156469560 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:156676865:A:G
                        Gene:
                        LMBR1 (Varview), RNF32 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000007.14:g.156676866A>G, NC_000007.13:g.156469560A>G, NG_009240.2:g.221343T>C, XM_005249522.6:c.*211A>G, XM_005249522.5:c.*211A>G, XM_005249522.4:c.*211A>G, XM_005249522.3:c.*211A>G, XM_005249522.2:c.*211A>G, XM_005249522.1:c.*211A>G, XM_011515808.4:c.*211A>G, XM_011515808.3:c.*211A>G, XM_011515808.2:c.*211A>G, XM_011515808.1:c.*211A>G, XM_011515805.4:c.*211A>G, XM_011515805.3:c.*211A>G, XM_011515805.2:c.*211A>G, XM_011515805.1:c.*211A>G, XM_011515809.4:c.*211A>G, XM_011515809.3:c.*211A>G, XM_011515809.2:c.*211A>G, XM_011515809.1:c.*211A>G, XM_011515806.4:c.*211A>G, XM_011515806.3:c.*211A>G, XM_011515806.2:c.*211A>G, XM_011515806.1:c.*211A>G, XM_011515804.4:c.*211A>G, XM_011515804.3:c.*211A>G, XM_011515804.2:c.*211A>G, XM_011515804.1:c.*211A>G, XM_011515812.4:c.*211A>G, XM_011515812.3:c.*211A>G, XM_011515812.2:c.*211A>G, XM_011515812.1:c.*211A>G, XM_011515807.4:c.*211A>G, XM_011515807.3:c.*211A>G, XM_011515807.2:c.*211A>G, XM_011515807.1:c.*211A>G, NM_030936.4:c.*211A>G, NM_030936.3:c.*211A>G, XM_011515810.3:c.*211A>G, XM_011515810.2:c.*211A>G, XM_011515810.1:c.*211A>G, XM_011515811.3:c.*211A>G, XM_011515811.2:c.*211A>G, XM_011515811.1:c.*211A>G, XM_011515813.3:c.*211A>G, XM_011515813.2:c.*211A>G, XM_011515813.1:c.*211A>G, NM_001308273.2:c.*491A>G, NM_001308273.1:c.*491A>G, NM_001184996.2:c.*211A>G, NM_001184996.1:c.*211A>G, XM_047419894.1:c.*211A>G, XM_047419899.1:c.*491A>G, XM_047419897.1:c.*211A>G, XM_047419896.1:c.*211A>G, XM_047419895.1:c.*211A>G, XM_047419898.1:c.*211A>G, NM_001184997.1:c.*211A>G, NR_131778.1:n.1484A>G

                        12.

                        rs1471867336 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          7:156676553 (GRCh38)
                          7:156469247 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:156676552:G:A,NC_000007.14:156676552:G:C
                          Gene:
                          LMBR1 (Varview), RNF32 (Varview)
                          Functional Consequence:
                          synonymous_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000071/1 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000007.14:g.156676553G>A, NC_000007.14:g.156676553G>C, NC_000007.13:g.156469247G>A, NC_000007.13:g.156469247G>C, NG_009240.2:g.221656C>T, NG_009240.2:g.221656C>G, NR_146959.2:n.4346C>T, NR_146959.2:n.4346C>G, NR_146959.1:n.4371C>T, NR_146959.1:n.4371C>G, XM_005249522.6:c.987G>A, XM_005249522.6:c.987G>C, XM_005249522.5:c.987G>A, XM_005249522.5:c.987G>C, XM_005249522.4:c.987G>A, XM_005249522.4:c.987G>C, XM_005249522.3:c.987G>A, XM_005249522.3:c.987G>C, XM_005249522.2:c.987G>A, XM_005249522.2:c.987G>C, XM_005249522.1:c.987G>A, XM_005249522.1:c.987G>C, XM_011515808.4:c.987G>A, XM_011515808.4:c.987G>C, XM_011515808.3:c.987G>A, XM_011515808.3:c.987G>C, XM_011515808.2:c.987G>A, XM_011515808.2:c.987G>C, XM_011515808.1:c.987G>A, XM_011515808.1:c.987G>C, XM_011515805.4:c.987G>A, XM_011515805.4:c.987G>C, XM_011515805.3:c.987G>A, XM_011515805.3:c.987G>C, XM_011515805.2:c.987G>A, XM_011515805.2:c.987G>C, XM_011515805.1:c.987G>A, XM_011515805.1:c.987G>C, XM_011515809.4:c.987G>A, XM_011515809.4:c.987G>C, XM_011515809.3:c.987G>A, XM_011515809.3:c.987G>C, XM_011515809.2:c.987G>A, XM_011515809.2:c.987G>C, XM_011515809.1:c.987G>A, XM_011515809.1:c.987G>C, XM_011515806.4:c.987G>A, XM_011515806.4:c.987G>C, XM_011515806.3:c.987G>A, XM_011515806.3:c.987G>C, XM_011515806.2:c.987G>A, XM_011515806.2:c.987G>C, XM_011515806.1:c.987G>A, XM_011515806.1:c.987G>C, XM_011515804.4:c.987G>A, XM_011515804.4:c.987G>C, XM_011515804.3:c.987G>A, XM_011515804.3:c.987G>C, XM_011515804.2:c.987G>A, XM_011515804.2:c.987G>C, XM_011515804.1:c.987G>A, XM_011515804.1:c.987G>C, XM_011515812.4:c.987G>A, XM_011515812.4:c.987G>C, XM_011515812.3:c.987G>A, XM_011515812.3:c.987G>C, XM_011515812.2:c.987G>A, XM_011515812.2:c.987G>C, XM_011515812.1:c.987G>A, XM_011515812.1:c.987G>C, XM_011515807.4:c.987G>A, XM_011515807.4:c.987G>C, XM_011515807.3:c.987G>A, XM_011515807.3:c.987G>C, XM_011515807.2:c.987G>A, XM_011515807.2:c.987G>C, XM_011515807.1:c.987G>A, XM_011515807.1:c.987G>C, NM_030936.4:c.987G>A, NM_030936.4:c.987G>C, NM_030936.3:c.987G>A, NM_030936.3:c.987G>C, XM_011515810.3:c.987G>A, XM_011515810.3:c.987G>C, XM_011515810.2:c.987G>A, XM_011515810.2:c.987G>C, XM_011515810.1:c.987G>A, XM_011515810.1:c.987G>C, XM_011515811.3:c.987G>A, XM_011515811.3:c.987G>C, XM_011515811.2:c.987G>A, XM_011515811.2:c.987G>C, XM_011515811.1:c.987G>A, XM_011515811.1:c.987G>C, XM_011515813.3:c.948G>A, XM_011515813.3:c.948G>C, XM_011515813.2:c.948G>A, XM_011515813.2:c.948G>C, XM_011515813.1:c.948G>A, XM_011515813.1:c.948G>C, NM_001308273.2:c.*178G>A, NM_001308273.2:c.*178G>C, NM_001308273.1:c.*178G>A, NM_001308273.1:c.*178G>C, NM_001184996.2:c.987G>A, NM_001184996.2:c.987G>C, NM_001184996.1:c.987G>A, NM_001184996.1:c.987G>C, XR_007060136.1:n.5768C>T, XR_007060136.1:n.5768C>G, XR_007060133.1:n.4794C>T, XR_007060133.1:n.4794C>G, XR_007060132.1:n.4528C>T, XR_007060132.1:n.4528C>G, XR_007060130.1:n.4469C>T, XR_007060130.1:n.4469C>G, XR_007060134.1:n.4405C>T, XR_007060134.1:n.4405C>G, XR_007060131.1:n.4373C>T, XR_007060131.1:n.4373C>G, XR_007060135.1:n.4250C>T, XR_007060135.1:n.4250C>G, XR_007060137.1:n.3864C>T, XR_007060137.1:n.3864C>G, XM_047419894.1:c.987G>A, XM_047419894.1:c.987G>C, XM_047419899.1:c.*178G>A, XM_047419899.1:c.*178G>C, XM_047419897.1:c.987G>A, XM_047419897.1:c.987G>C, XM_047419896.1:c.987G>A, XM_047419896.1:c.987G>C, XM_047419895.1:c.987G>A, XM_047419895.1:c.987G>C, XM_047419898.1:c.948G>A, XM_047419898.1:c.948G>C, NM_001184997.1:c.987G>A, NM_001184997.1:c.987G>C, NR_131778.1:n.1171G>A, NR_131778.1:n.1171G>C

                          13.

                          rs1471538787 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            7:156658194 (GRCh38)
                            7:156450888 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:156658193:T:C
                            Gene:
                            RNF32 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000007.14:g.156658194T>C, NC_000007.13:g.156450888T>C, XM_005249522.6:c.517T>C, XM_005249522.5:c.517T>C, XM_005249522.4:c.517T>C, XM_005249522.3:c.517T>C, XM_005249522.2:c.517T>C, XM_005249522.1:c.517T>C, XM_011515808.4:c.517T>C, XM_011515808.3:c.517T>C, XM_011515808.2:c.517T>C, XM_011515808.1:c.517T>C, XM_011515805.4:c.517T>C, XM_011515805.3:c.517T>C, XM_011515805.2:c.517T>C, XM_011515805.1:c.517T>C, XM_011515809.4:c.517T>C, XM_011515809.3:c.517T>C, XM_011515809.2:c.517T>C, XM_011515809.1:c.517T>C, XM_011515806.4:c.517T>C, XM_011515806.3:c.517T>C, XM_011515806.2:c.517T>C, XM_011515806.1:c.517T>C, XM_011515804.4:c.517T>C, XM_011515804.3:c.517T>C, XM_011515804.2:c.517T>C, XM_011515804.1:c.517T>C, XM_011515812.4:c.517T>C, XM_011515812.3:c.517T>C, XM_011515812.2:c.517T>C, XM_011515812.1:c.517T>C, XM_011515807.4:c.517T>C, XM_011515807.3:c.517T>C, XM_011515807.2:c.517T>C, XM_011515807.1:c.517T>C, NM_030936.4:c.517T>C, NM_030936.3:c.517T>C, XM_011515810.3:c.517T>C, XM_011515810.2:c.517T>C, XM_011515810.1:c.517T>C, XM_011515811.3:c.517T>C, XM_011515811.2:c.517T>C, XM_011515811.1:c.517T>C, XM_011515813.3:c.478T>C, XM_011515813.2:c.478T>C, XM_011515813.1:c.478T>C, XM_024446666.2:c.517T>C, XM_024446666.1:c.517T>C, XM_017011755.2:c.517T>C, XM_017011755.1:c.517T>C, NM_001308273.2:c.517T>C, NM_001308273.1:c.517T>C, NM_001184996.2:c.517T>C, NM_001184996.1:c.517T>C, XM_047419894.1:c.517T>C, XM_047419900.1:c.517T>C, XM_047419903.1:c.517T>C, XM_047419901.1:c.517T>C, XM_047419902.1:c.517T>C, XR_007059985.1:n.769T>C, XM_047419904.1:c.517T>C, NM_001308274.1:c.517T>C, XM_047419899.1:c.517T>C, XM_047419897.1:c.517T>C, XM_047419896.1:c.517T>C, XM_047419895.1:c.517T>C, XM_047419898.1:c.478T>C, NM_001184997.1:c.517T>C, NR_131778.1:n.701T>C, XR_007059986.1:n.880T>C, XM_047419905.1:c.534T>C, XP_005249579.1:p.Tyr173His, XP_011514110.1:p.Tyr173His, XP_011514107.1:p.Tyr173His, XP_011514111.1:p.Tyr173His, XP_011514108.1:p.Tyr173His, XP_011514106.1:p.Tyr173His, XP_011514114.1:p.Tyr173His, XP_011514109.1:p.Tyr173His, NP_112198.1:p.Tyr173His, XP_011514112.1:p.Tyr173His, XP_011514113.1:p.Tyr173His, XP_011514115.1:p.Tyr160His, XP_024302434.1:p.Tyr173His, XP_016867244.1:p.Tyr173His, NP_001295202.1:p.Tyr173His, NP_001171925.1:p.Tyr173His, XP_047275850.1:p.Tyr173His, XP_047275856.1:p.Tyr173His, XP_047275859.1:p.Tyr173His, XP_047275857.1:p.Tyr173His, XP_047275858.1:p.Tyr173His, XP_047275860.1:p.Tyr173His, NP_001295203.1:p.Tyr173His, XP_047275855.1:p.Tyr173His, XP_047275853.1:p.Tyr173His, XP_047275852.1:p.Tyr173His, XP_047275851.1:p.Tyr173His, XP_047275854.1:p.Tyr160His, NP_001171926.1:p.Tyr173His

                            14.

                            rs1470089711 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              7:156677001 (GRCh38)
                              7:156469695 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:156677000:C:A
                              Gene:
                              LMBR1 (Varview), RNF32 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000071/1 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000011/3 (TOPMED)
                              HGVS:
                              NC_000007.14:g.156677001C>A, NC_000007.13:g.156469695C>A, NG_009240.2:g.221208G>T, XM_005249522.6:c.*346C>A, XM_005249522.5:c.*346C>A, XM_005249522.4:c.*346C>A, XM_005249522.3:c.*346C>A, XM_005249522.2:c.*346C>A, XM_005249522.1:c.*346C>A, XM_011515808.4:c.*346C>A, XM_011515808.3:c.*346C>A, XM_011515808.2:c.*346C>A, XM_011515808.1:c.*346C>A, XM_011515805.4:c.*346C>A, XM_011515805.3:c.*346C>A, XM_011515805.2:c.*346C>A, XM_011515805.1:c.*346C>A, XM_011515809.4:c.*346C>A, XM_011515809.3:c.*346C>A, XM_011515809.2:c.*346C>A, XM_011515809.1:c.*346C>A, XM_011515806.4:c.*346C>A, XM_011515806.3:c.*346C>A, XM_011515806.2:c.*346C>A, XM_011515806.1:c.*346C>A, XM_011515804.4:c.*346C>A, XM_011515804.3:c.*346C>A, XM_011515804.2:c.*346C>A, XM_011515804.1:c.*346C>A, XM_011515812.4:c.*346C>A, XM_011515812.3:c.*346C>A, XM_011515812.2:c.*346C>A, XM_011515812.1:c.*346C>A, XM_011515807.4:c.*346C>A, XM_011515807.3:c.*346C>A, XM_011515807.2:c.*346C>A, XM_011515807.1:c.*346C>A, NM_030936.4:c.*346C>A, NM_030936.3:c.*346C>A, XM_011515810.3:c.*346C>A, XM_011515810.2:c.*346C>A, XM_011515810.1:c.*346C>A, XM_011515811.3:c.*346C>A, XM_011515811.2:c.*346C>A, XM_011515811.1:c.*346C>A, XM_011515813.3:c.*346C>A, XM_011515813.2:c.*346C>A, XM_011515813.1:c.*346C>A, NM_001308273.2:c.*626C>A, NM_001308273.1:c.*626C>A, NM_001184996.2:c.*346C>A, NM_001184996.1:c.*346C>A, XM_047419894.1:c.*346C>A, XM_047419899.1:c.*626C>A, XM_047419897.1:c.*346C>A, XM_047419896.1:c.*346C>A, XM_047419895.1:c.*346C>A, XM_047419898.1:c.*346C>A, NM_001184997.1:c.*346C>A, NR_131778.1:n.1619C>A

                              15.

                              rs1464240977 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                7:156675809 (GRCh38)
                                7:156468503 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:156675808:A:C
                                Gene:
                                LMBR1 (Varview), RNF32 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,intron_variant,non_coding_transcript_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000007.14:g.156675809A>C, NC_000007.13:g.156468503A>C, NG_009240.2:g.222400T>G, XM_005249522.6:c.798A>C, XM_005249522.5:c.798A>C, XM_005249522.4:c.798A>C, XM_005249522.3:c.798A>C, XM_005249522.2:c.798A>C, XM_005249522.1:c.798A>C, XM_011515808.4:c.798A>C, XM_011515808.3:c.798A>C, XM_011515808.2:c.798A>C, XM_011515808.1:c.798A>C, XM_011515805.4:c.798A>C, XM_011515805.3:c.798A>C, XM_011515805.2:c.798A>C, XM_011515805.1:c.798A>C, XM_011515809.4:c.798A>C, XM_011515809.3:c.798A>C, XM_011515809.2:c.798A>C, XM_011515809.1:c.798A>C, XM_011515806.4:c.798A>C, XM_011515806.3:c.798A>C, XM_011515806.2:c.798A>C, XM_011515806.1:c.798A>C, XM_011515804.4:c.798A>C, XM_011515804.3:c.798A>C, XM_011515804.2:c.798A>C, XM_011515804.1:c.798A>C, XM_011515812.4:c.798A>C, XM_011515812.3:c.798A>C, XM_011515812.2:c.798A>C, XM_011515812.1:c.798A>C, XM_011515807.4:c.798A>C, XM_011515807.3:c.798A>C, XM_011515807.2:c.798A>C, XM_011515807.1:c.798A>C, NM_030936.4:c.798A>C, NM_030936.3:c.798A>C, XM_011515810.3:c.798A>C, XM_011515810.2:c.798A>C, XM_011515810.1:c.798A>C, XM_011515811.3:c.798A>C, XM_011515811.2:c.798A>C, XM_011515811.1:c.798A>C, XM_011515813.3:c.759A>C, XM_011515813.2:c.759A>C, XM_011515813.1:c.759A>C, NM_001308273.2:c.798A>C, NM_001308273.1:c.798A>C, NM_001184996.2:c.798A>C, NM_001184996.1:c.798A>C, XM_047419894.1:c.798A>C, XM_047419899.1:c.798A>C, XM_047419897.1:c.798A>C, XM_047419896.1:c.798A>C, XM_047419895.1:c.798A>C, XM_047419898.1:c.759A>C, NM_001184997.1:c.798A>C, NR_131778.1:n.982A>C, XP_005249579.1:p.Glu266Asp, XP_011514110.1:p.Glu266Asp, XP_011514107.1:p.Glu266Asp, XP_011514111.1:p.Glu266Asp, XP_011514108.1:p.Glu266Asp, XP_011514106.1:p.Glu266Asp, XP_011514114.1:p.Glu266Asp, XP_011514109.1:p.Glu266Asp, NP_112198.1:p.Glu266Asp, XP_011514112.1:p.Glu266Asp, XP_011514113.1:p.Glu266Asp, XP_011514115.1:p.Glu253Asp, NP_001295202.1:p.Glu266Asp, NP_001171925.1:p.Glu266Asp, XP_047275850.1:p.Glu266Asp, XP_047275855.1:p.Glu266Asp, XP_047275853.1:p.Glu266Asp, XP_047275852.1:p.Glu266Asp, XP_047275851.1:p.Glu266Asp, XP_047275854.1:p.Glu253Asp, NP_001171926.1:p.Glu266Asp

                                16.

                                rs1462241285 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  7:156675845 (GRCh38)
                                  7:156468539 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:156675844:G:A
                                  Gene:
                                  LMBR1 (Varview), RNF32 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,stop_gained,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000007.14:g.156675845G>A, NC_000007.13:g.156468539G>A, NG_009240.2:g.222364C>T, XM_005249522.6:c.834G>A, XM_005249522.5:c.834G>A, XM_005249522.4:c.834G>A, XM_005249522.3:c.834G>A, XM_005249522.2:c.834G>A, XM_005249522.1:c.834G>A, XM_011515808.4:c.834G>A, XM_011515808.3:c.834G>A, XM_011515808.2:c.834G>A, XM_011515808.1:c.834G>A, XM_011515805.4:c.834G>A, XM_011515805.3:c.834G>A, XM_011515805.2:c.834G>A, XM_011515805.1:c.834G>A, XM_011515809.4:c.834G>A, XM_011515809.3:c.834G>A, XM_011515809.2:c.834G>A, XM_011515809.1:c.834G>A, XM_011515806.4:c.834G>A, XM_011515806.3:c.834G>A, XM_011515806.2:c.834G>A, XM_011515806.1:c.834G>A, XM_011515804.4:c.834G>A, XM_011515804.3:c.834G>A, XM_011515804.2:c.834G>A, XM_011515804.1:c.834G>A, XM_011515812.4:c.834G>A, XM_011515812.3:c.834G>A, XM_011515812.2:c.834G>A, XM_011515812.1:c.834G>A, XM_011515807.4:c.834G>A, XM_011515807.3:c.834G>A, XM_011515807.2:c.834G>A, XM_011515807.1:c.834G>A, NM_030936.4:c.834G>A, NM_030936.3:c.834G>A, XM_011515810.3:c.834G>A, XM_011515810.2:c.834G>A, XM_011515810.1:c.834G>A, XM_011515811.3:c.834G>A, XM_011515811.2:c.834G>A, XM_011515811.1:c.834G>A, XM_011515813.3:c.795G>A, XM_011515813.2:c.795G>A, XM_011515813.1:c.795G>A, NM_001308273.2:c.834G>A, NM_001308273.1:c.834G>A, NM_001184996.2:c.834G>A, NM_001184996.1:c.834G>A, XM_047419894.1:c.834G>A, XM_047419899.1:c.834G>A, XM_047419897.1:c.834G>A, XM_047419896.1:c.834G>A, XM_047419895.1:c.834G>A, XM_047419898.1:c.795G>A, NM_001184997.1:c.834G>A, NR_131778.1:n.1018G>A, XP_005249579.1:p.Trp278Ter, XP_011514110.1:p.Trp278Ter, XP_011514107.1:p.Trp278Ter, XP_011514111.1:p.Trp278Ter, XP_011514108.1:p.Trp278Ter, XP_011514106.1:p.Trp278Ter, XP_011514114.1:p.Trp278Ter, XP_011514109.1:p.Trp278Ter, NP_112198.1:p.Trp278Ter, XP_011514112.1:p.Trp278Ter, XP_011514113.1:p.Trp278Ter, XP_011514115.1:p.Trp265Ter, NP_001295202.1:p.Trp278Ter, NP_001171925.1:p.Trp278Ter, XP_047275850.1:p.Trp278Ter, XP_047275855.1:p.Trp278Ter, XP_047275853.1:p.Trp278Ter, XP_047275852.1:p.Trp278Ter, XP_047275851.1:p.Trp278Ter, XP_047275854.1:p.Trp265Ter, NP_001171926.1:p.Trp278Ter

                                  17.

                                  rs1460588084 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    TTCTTTG>- [Show Flanks]
                                    Chromosome:
                                    7:156658556 (GRCh38)
                                    7:156451250 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:156658555:TTCTTTG:
                                    Gene:
                                    RNF32 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,frameshift_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant
                                    HGVS:
                                    NC_000007.14:g.156658556_156658562del, NC_000007.13:g.156451250_156451256del, XM_005249522.6:c.670_676del, XM_005249522.5:c.670_676del, XM_005249522.4:c.670_676del, XM_005249522.3:c.670_676del, XM_005249522.2:c.670_676del, XM_005249522.1:c.670_676del, XM_011515808.4:c.670_676del, XM_011515808.3:c.670_676del, XM_011515808.2:c.670_676del, XM_011515808.1:c.670_676del, XM_011515805.4:c.670_676del, XM_011515805.3:c.670_676del, XM_011515805.2:c.670_676del, XM_011515805.1:c.670_676del, XM_011515809.4:c.670_676del, XM_011515809.3:c.670_676del, XM_011515809.2:c.670_676del, XM_011515809.1:c.670_676del, XM_011515806.4:c.670_676del, XM_011515806.3:c.670_676del, XM_011515806.2:c.670_676del, XM_011515806.1:c.670_676del, XM_011515804.4:c.670_676del, XM_011515804.3:c.670_676del, XM_011515804.2:c.670_676del, XM_011515804.1:c.670_676del, XM_011515812.4:c.670_676del, XM_011515812.3:c.670_676del, XM_011515812.2:c.670_676del, XM_011515812.1:c.670_676del, XM_011515807.4:c.670_676del, XM_011515807.3:c.670_676del, XM_011515807.2:c.670_676del, XM_011515807.1:c.670_676del, NM_030936.4:c.670_676del, NM_030936.3:c.670_676del, XM_011515810.3:c.670_676del, XM_011515810.2:c.670_676del, XM_011515810.1:c.670_676del, XM_011515811.3:c.670_676del, XM_011515811.2:c.670_676del, XM_011515811.1:c.670_676del, XM_011515813.3:c.631_637del, XM_011515813.2:c.631_637del, XM_011515813.1:c.631_637del, XM_024446666.2:c.670_676del, XM_024446666.1:c.670_676del, XM_017011755.2:c.670_676del, XM_017011755.1:c.670_676del, NM_001308273.2:c.670_676del, NM_001308273.1:c.670_676del, NM_001184996.2:c.670_676del, NM_001184996.1:c.670_676del, XM_047419894.1:c.670_676del, XM_047419900.1:c.670_676del, XM_047419903.1:c.670_676del, XM_047419901.1:c.670_676del, XM_047419902.1:c.670_676del, XR_007059985.1:n.922_928del, XM_047419904.1:c.670_676del, NM_001308274.1:c.670_676del, XM_047419899.1:c.670_676del, XM_047419897.1:c.670_676del, XM_047419896.1:c.670_676del, XM_047419895.1:c.670_676del, XM_047419898.1:c.631_637del, NM_001184997.1:c.670_676del, NR_131778.1:n.854_860del, XR_007059986.1:n.1033_1039del, XP_005249579.1:p.Phe224fs, XP_011514110.1:p.Phe224fs, XP_011514107.1:p.Phe224fs, XP_011514111.1:p.Phe224fs, XP_011514108.1:p.Phe224fs, XP_011514106.1:p.Phe224fs, XP_011514114.1:p.Phe224fs, XP_011514109.1:p.Phe224fs, NP_112198.1:p.Phe224fs, XP_011514112.1:p.Phe224fs, XP_011514113.1:p.Phe224fs, XP_011514115.1:p.Phe211fs, XP_024302434.1:p.Phe224fs, XP_016867244.1:p.Phe224fs, NP_001295202.1:p.Phe224fs, NP_001171925.1:p.Phe224fs, XP_047275850.1:p.Phe224fs, XP_047275856.1:p.Phe224fs, XP_047275859.1:p.Phe224fs, XP_047275857.1:p.Phe224fs, XP_047275858.1:p.Phe224fs, XP_047275860.1:p.Phe224fs, NP_001295203.1:p.Phe224fs, XP_047275855.1:p.Phe224fs, XP_047275853.1:p.Phe224fs, XP_047275852.1:p.Phe224fs, XP_047275851.1:p.Phe224fs, XP_047275854.1:p.Phe211fs, NP_001171926.1:p.Phe224fs

                                    18.

                                    rs1458609238 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A,G [Show Flanks]
                                      Chromosome:
                                      7:156676825 (GRCh38)
                                      7:156469519 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:156676824:T:A,NC_000007.14:156676824:T:G
                                      Gene:
                                      LMBR1 (Varview), RNF32 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      NC_000007.14:g.156676825T>A, NC_000007.14:g.156676825T>G, NC_000007.13:g.156469519T>A, NC_000007.13:g.156469519T>G, NG_009240.2:g.221384A>T, NG_009240.2:g.221384A>C, XM_005249522.6:c.*170T>A, XM_005249522.6:c.*170T>G, XM_005249522.5:c.*170T>A, XM_005249522.5:c.*170T>G, XM_005249522.4:c.*170T>A, XM_005249522.4:c.*170T>G, XM_005249522.3:c.*170T>A, XM_005249522.3:c.*170T>G, XM_005249522.2:c.*170T>A, XM_005249522.2:c.*170T>G, XM_005249522.1:c.*170T>A, XM_005249522.1:c.*170T>G, XM_011515808.4:c.*170T>A, XM_011515808.4:c.*170T>G, XM_011515808.3:c.*170T>A, XM_011515808.3:c.*170T>G, XM_011515808.2:c.*170T>A, XM_011515808.2:c.*170T>G, XM_011515808.1:c.*170T>A, XM_011515808.1:c.*170T>G, XM_011515805.4:c.*170T>A, XM_011515805.4:c.*170T>G, XM_011515805.3:c.*170T>A, XM_011515805.3:c.*170T>G, XM_011515805.2:c.*170T>A, XM_011515805.2:c.*170T>G, XM_011515805.1:c.*170T>A, XM_011515805.1:c.*170T>G, XM_011515809.4:c.*170T>A, XM_011515809.4:c.*170T>G, XM_011515809.3:c.*170T>A, XM_011515809.3:c.*170T>G, XM_011515809.2:c.*170T>A, XM_011515809.2:c.*170T>G, XM_011515809.1:c.*170T>A, XM_011515809.1:c.*170T>G, XM_011515806.4:c.*170T>A, XM_011515806.4:c.*170T>G, XM_011515806.3:c.*170T>A, XM_011515806.3:c.*170T>G, XM_011515806.2:c.*170T>A, XM_011515806.2:c.*170T>G, XM_011515806.1:c.*170T>A, XM_011515806.1:c.*170T>G, XM_011515804.4:c.*170T>A, XM_011515804.4:c.*170T>G, XM_011515804.3:c.*170T>A, XM_011515804.3:c.*170T>G, XM_011515804.2:c.*170T>A, XM_011515804.2:c.*170T>G, XM_011515804.1:c.*170T>A, XM_011515804.1:c.*170T>G, XM_011515812.4:c.*170T>A, XM_011515812.4:c.*170T>G, XM_011515812.3:c.*170T>A, XM_011515812.3:c.*170T>G, XM_011515812.2:c.*170T>A, XM_011515812.2:c.*170T>G, XM_011515812.1:c.*170T>A, XM_011515812.1:c.*170T>G, XM_011515807.4:c.*170T>A, XM_011515807.4:c.*170T>G, XM_011515807.3:c.*170T>A, XM_011515807.3:c.*170T>G, XM_011515807.2:c.*170T>A, XM_011515807.2:c.*170T>G, XM_011515807.1:c.*170T>A, XM_011515807.1:c.*170T>G, NM_030936.4:c.*170T>A, NM_030936.4:c.*170T>G, NM_030936.3:c.*170T>A, NM_030936.3:c.*170T>G, XM_011515810.3:c.*170T>A, XM_011515810.3:c.*170T>G, XM_011515810.2:c.*170T>A, XM_011515810.2:c.*170T>G, XM_011515810.1:c.*170T>A, XM_011515810.1:c.*170T>G, XM_011515811.3:c.*170T>A, XM_011515811.3:c.*170T>G, XM_011515811.2:c.*170T>A, XM_011515811.2:c.*170T>G, XM_011515811.1:c.*170T>A, XM_011515811.1:c.*170T>G, XM_011515813.3:c.*170T>A, XM_011515813.3:c.*170T>G, XM_011515813.2:c.*170T>A, XM_011515813.2:c.*170T>G, XM_011515813.1:c.*170T>A, XM_011515813.1:c.*170T>G, NM_001308273.2:c.*450T>A, NM_001308273.2:c.*450T>G, NM_001308273.1:c.*450T>A, NM_001308273.1:c.*450T>G, NM_001184996.2:c.*170T>A, NM_001184996.2:c.*170T>G, NM_001184996.1:c.*170T>A, NM_001184996.1:c.*170T>G, XM_047419894.1:c.*170T>A, XM_047419894.1:c.*170T>G, XM_047419899.1:c.*450T>A, XM_047419899.1:c.*450T>G, XM_047419897.1:c.*170T>A, XM_047419897.1:c.*170T>G, XM_047419896.1:c.*170T>A, XM_047419896.1:c.*170T>G, XM_047419895.1:c.*170T>A, XM_047419895.1:c.*170T>G, XM_047419898.1:c.*170T>A, XM_047419898.1:c.*170T>G, NM_001184997.1:c.*170T>A, NM_001184997.1:c.*170T>G, NR_131778.1:n.1443T>A, NR_131778.1:n.1443T>G

                                      19.

                                      rs1458599908 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        7:156676879 (GRCh38)
                                        7:156469573 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:156676878:C:T
                                        Gene:
                                        LMBR1 (Varview), RNF32 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        T=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000007.14:g.156676879C>T, NC_000007.13:g.156469573C>T, NG_009240.2:g.221330G>A, XM_005249522.6:c.*224C>T, XM_005249522.5:c.*224C>T, XM_005249522.4:c.*224C>T, XM_005249522.3:c.*224C>T, XM_005249522.2:c.*224C>T, XM_005249522.1:c.*224C>T, XM_011515808.4:c.*224C>T, XM_011515808.3:c.*224C>T, XM_011515808.2:c.*224C>T, XM_011515808.1:c.*224C>T, XM_011515805.4:c.*224C>T, XM_011515805.3:c.*224C>T, XM_011515805.2:c.*224C>T, XM_011515805.1:c.*224C>T, XM_011515809.4:c.*224C>T, XM_011515809.3:c.*224C>T, XM_011515809.2:c.*224C>T, XM_011515809.1:c.*224C>T, XM_011515806.4:c.*224C>T, XM_011515806.3:c.*224C>T, XM_011515806.2:c.*224C>T, XM_011515806.1:c.*224C>T, XM_011515804.4:c.*224C>T, XM_011515804.3:c.*224C>T, XM_011515804.2:c.*224C>T, XM_011515804.1:c.*224C>T, XM_011515812.4:c.*224C>T, XM_011515812.3:c.*224C>T, XM_011515812.2:c.*224C>T, XM_011515812.1:c.*224C>T, XM_011515807.4:c.*224C>T, XM_011515807.3:c.*224C>T, XM_011515807.2:c.*224C>T, XM_011515807.1:c.*224C>T, NM_030936.4:c.*224C>T, NM_030936.3:c.*224C>T, XM_011515810.3:c.*224C>T, XM_011515810.2:c.*224C>T, XM_011515810.1:c.*224C>T, XM_011515811.3:c.*224C>T, XM_011515811.2:c.*224C>T, XM_011515811.1:c.*224C>T, XM_011515813.3:c.*224C>T, XM_011515813.2:c.*224C>T, XM_011515813.1:c.*224C>T, NM_001308273.2:c.*504C>T, NM_001308273.1:c.*504C>T, NM_001184996.2:c.*224C>T, NM_001184996.1:c.*224C>T, XM_047419894.1:c.*224C>T, XM_047419899.1:c.*504C>T, XM_047419897.1:c.*224C>T, XM_047419896.1:c.*224C>T, XM_047419895.1:c.*224C>T, XM_047419898.1:c.*224C>T, NM_001184997.1:c.*224C>T, NR_131778.1:n.1497C>T

                                        20.

                                        rs1458245313 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          7:156646469 (GRCh38)
                                          7:156439163 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:156646468:A:C
                                          Gene:
                                          RNF32 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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