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Items: 1 to 20 of 1000

1.

rs1491413628 has merged into rs3214141 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AA>-,A,AAA,AAAA [Show Flanks]
    Chromosome:
    X:13751485 (GRCh38)
    X:13769604 (GRCh37)
    Canonical SPDI:
    NC_000023.11:13751474:AAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:13751474:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:13751474:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:13751474:AAAAAAAAAAAA:AAAAAAAAAAAAAA
    Gene:
    OFD1 (Varview)
    Functional Consequence:
    intron_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAAA=0./0 (ALFA)
    -=0.001324/3 (1000Genomes)
    -=0.225/9 (GENOME_DK)
    -=0.242988/901 (TWINSUK)
    -=0.246106/711 (ALSPAC)
    -=0.308489/81654 (TOPMED)
    HGVS:

    2.

    rs1491374273 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      C>-,CC [Show Flanks]
      Chromosome:
      X:13769240 (GRCh38)
      X:13787359 (GRCh37)
      Canonical SPDI:
      NC_000023.11:13769239:CC:C,NC_000023.11:13769239:CC:CCC
      Gene:
      OFD1 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CCC=0./0 (ALFA)
      HGVS:
      NC_000023.11:g.13769241del, NC_000023.11:g.13769241dup, NC_000023.10:g.13787360del, NC_000023.10:g.13787360dup, NG_011988.1:g.174473del, NG_011988.1:g.174473dup, NG_008872.1:g.39529del, NG_008872.1:g.39529dup, NM_003611.3:c.*133del, NM_003611.3:c.*133dup, NM_003611.2:c.*133del, NM_003611.2:c.*133dup, NM_001330210.2:c.*133del, NM_001330210.2:c.*133dup, NM_001330210.1:c.*133del, NM_001330210.1:c.*133dup, NM_001330209.2:c.*133del, NM_001330209.2:c.*133dup, NM_001330209.1:c.*133del, NM_001330209.1:c.*133dup, XM_017029909.2:c.*133del, XM_017029909.2:c.*133dup, XM_017029909.1:c.*133del, XM_017029909.1:c.*133dup, XM_017029911.2:c.*133del, XM_017029911.2:c.*133dup, XM_017029911.1:c.*133del, XM_017029911.1:c.*133dup, XM_011545598.2:c.*133del, XM_011545598.2:c.*133dup, XM_011545598.1:c.*133del, XM_011545598.1:c.*133dup, XM_047442583.1:c.*133del, XM_047442583.1:c.*133dup, XM_047442585.1:c.*133del, XM_047442585.1:c.*133dup, XM_047442586.1:c.*133del, XM_047442586.1:c.*133dup, XM_047442589.1:c.*133del, XM_047442589.1:c.*133dup, XM_047442587.1:c.*133del, XM_047442587.1:c.*133dup, XM_047442590.1:c.*133del, XM_047442590.1:c.*133dup

      3.

      rs1491348711 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AT>- [Show Flanks]
        Chromosome:
        X:13749140 (GRCh38)
        X:13767259 (GRCh37)
        Canonical SPDI:
        NC_000023.11:13749139:AT:
        Gene:
        OFD1 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0.00012/2 (ALFA)
        -=0.00018/18 (GnomAD)
        HGVS:

        4.

        rs1491241654 has merged into rs35839446 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
          Chromosome:
          X:13749135 (GRCh38)
          X:13767254 (GRCh37)
          Canonical SPDI:
          NC_000023.11:13749121:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:13749121:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:13749121:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:13749121:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:13749121:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:13749121:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:13749121:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:13749121:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
          Gene:
          OFD1 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Clinical significance:
          benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAAA=0./0 (ALFA)
          -=0.2718/1026 (1000Genomes)
          HGVS:

          5.

          rs1491146861 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GT>- [Show Flanks]
            Chromosome:
            X:13737252 (GRCh38)
            X:13755371 (GRCh37)
            Canonical SPDI:
            NC_000023.11:13737250:TGT:T
            Gene:
            OFD1 (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            -=0.00002/2 (GnomAD)
            HGVS:

            6.

            rs1491033363 has merged into rs34300430 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              X:13755958 (GRCh38)
              X:13774077 (GRCh37)
              Canonical SPDI:
              NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:13755946:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              OFD1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTTTT=0./0 (ALFA)
              -=0.0249/72 (ALSPAC)
              -=0.0289/107 (TWINSUK)
              -=0.125/5 (GENOME_DK)
              HGVS:
              NC_000023.11:g.13755958_13755968del, NC_000023.11:g.13755959_13755968del, NC_000023.11:g.13755960_13755968del, NC_000023.11:g.13755961_13755968del, NC_000023.11:g.13755962_13755968del, NC_000023.11:g.13755963_13755968del, NC_000023.11:g.13755964_13755968del, NC_000023.11:g.13755965_13755968del, NC_000023.11:g.13755966_13755968del, NC_000023.11:g.13755967_13755968del, NC_000023.11:g.13755968del, NC_000023.11:g.13755968dup, NC_000023.11:g.13755967_13755968dup, NC_000023.11:g.13755966_13755968dup, NC_000023.11:g.13755965_13755968dup, NC_000023.11:g.13755964_13755968dup, NC_000023.11:g.13755963_13755968dup, NC_000023.11:g.13755962_13755968dup, NC_000023.11:g.13755961_13755968dup, NC_000023.11:g.13755960_13755968dup, NC_000023.11:g.13755959_13755968dup, NC_000023.11:g.13755958_13755968dup, NC_000023.11:g.13755956_13755968dup, NC_000023.11:g.13755955_13755968dup, NC_000023.11:g.13755954_13755968dup, NC_000023.11:g.13755953_13755968dup, NC_000023.11:g.13755952_13755968dup, NC_000023.11:g.13755951_13755968dup, NC_000023.11:g.13755950_13755968dup, NC_000023.11:g.13755949_13755968dup, NC_000023.11:g.13755948_13755968dup, NC_000023.11:g.13755947_13755968dup, NC_000023.11:g.13755968_13755969insTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.13755968_13755969insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.13755968_13755969insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.13755968_13755969insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.13755968_13755969insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.13755968_13755969insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.13755968_13755969insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.13755968_13755969insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.13755968_13755969insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.13755968_13755969insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.13755968_13755969insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.13755968_13755969insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.13774077_13774087del, NC_000023.10:g.13774078_13774087del, NC_000023.10:g.13774079_13774087del, NC_000023.10:g.13774080_13774087del, NC_000023.10:g.13774081_13774087del, NC_000023.10:g.13774082_13774087del, NC_000023.10:g.13774083_13774087del, NC_000023.10:g.13774084_13774087del, NC_000023.10:g.13774085_13774087del, NC_000023.10:g.13774086_13774087del, NC_000023.10:g.13774087del, NC_000023.10:g.13774087dup, NC_000023.10:g.13774086_13774087dup, NC_000023.10:g.13774085_13774087dup, NC_000023.10:g.13774084_13774087dup, NC_000023.10:g.13774083_13774087dup, NC_000023.10:g.13774082_13774087dup, NC_000023.10:g.13774081_13774087dup, NC_000023.10:g.13774080_13774087dup, NC_000023.10:g.13774079_13774087dup, NC_000023.10:g.13774078_13774087dup, NC_000023.10:g.13774077_13774087dup, NC_000023.10:g.13774075_13774087dup, NC_000023.10:g.13774074_13774087dup, NC_000023.10:g.13774073_13774087dup, NC_000023.10:g.13774072_13774087dup, NC_000023.10:g.13774071_13774087dup, NC_000023.10:g.13774070_13774087dup, NC_000023.10:g.13774069_13774087dup, NC_000023.10:g.13774068_13774087dup, NC_000023.10:g.13774067_13774087dup, NC_000023.10:g.13774066_13774087dup, NC_000023.10:g.13774087_13774088insTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.13774087_13774088insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.13774087_13774088insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.13774087_13774088insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.13774087_13774088insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.13774087_13774088insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.13774087_13774088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.13774087_13774088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.13774087_13774088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.13774087_13774088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.13774087_13774088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.13774087_13774088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008872.1:g.26246_26256del, NG_008872.1:g.26247_26256del, NG_008872.1:g.26248_26256del, NG_008872.1:g.26249_26256del, NG_008872.1:g.26250_26256del, NG_008872.1:g.26251_26256del, NG_008872.1:g.26252_26256del, NG_008872.1:g.26253_26256del, NG_008872.1:g.26254_26256del, NG_008872.1:g.26255_26256del, NG_008872.1:g.26256del, NG_008872.1:g.26256dup, NG_008872.1:g.26255_26256dup, NG_008872.1:g.26254_26256dup, NG_008872.1:g.26253_26256dup, NG_008872.1:g.26252_26256dup, NG_008872.1:g.26251_26256dup, NG_008872.1:g.26250_26256dup, NG_008872.1:g.26249_26256dup, NG_008872.1:g.26248_26256dup, NG_008872.1:g.26247_26256dup, NG_008872.1:g.26246_26256dup, NG_008872.1:g.26244_26256dup, NG_008872.1:g.26243_26256dup, NG_008872.1:g.26242_26256dup, NG_008872.1:g.26241_26256dup, NG_008872.1:g.26240_26256dup, NG_008872.1:g.26239_26256dup, NG_008872.1:g.26238_26256dup, NG_008872.1:g.26237_26256dup, NG_008872.1:g.26236_26256dup, NG_008872.1:g.26235_26256dup, NG_008872.1:g.26256_26257insTTTTTTTTTTTTTTTTTTTTTTT, NG_008872.1:g.26256_26257insTTTTTTTTTTTTTTTTTTTTTTTT, NG_008872.1:g.26256_26257insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008872.1:g.26256_26257insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008872.1:g.26256_26257insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008872.1:g.26256_26257insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008872.1:g.26256_26257insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008872.1:g.26256_26257insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008872.1:g.26256_26257insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008872.1:g.26256_26257insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008872.1:g.26256_26257insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008872.1:g.26256_26257insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

              7.

              rs1490946776 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                X:13740549 (GRCh38)
                X:13758668 (GRCh37)
                Canonical SPDI:
                NC_000023.11:13740548:T:C
                Gene:
                OFD1 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:

                8.

                rs1490817972 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  X:13748270 (GRCh38)
                  X:13766389 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:13748269:C:T
                  Gene:
                  OFD1 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0.0004/2 (ALFA)
                  HGVS:

                  9.

                  rs1490717634 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    X:13750827 (GRCh38)
                    X:13768946 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:13750826:G:A
                    Gene:
                    OFD1 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000015/4 (TOPMED)
                    HGVS:

                    10.

                    rs1490679570 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      X:13749176 (GRCh38)
                      X:13767295 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:13749175:C:A
                      Gene:
                      OFD1 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      HGVS:

                      11.

                      rs1490553851 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        C>- [Show Flanks]
                        Chromosome:
                        X:13751487 (GRCh38)
                        X:13769606 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:13751486:C:
                        Gene:
                        OFD1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        -=0.00002/2 (GnomAD)
                        HGVS:

                        12.

                        rs1490517956 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          X:13749922 (GRCh38)
                          X:13768041 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:13749921:A:G
                          Gene:
                          OFD1 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000011/3 (TOPMED)
                          HGVS:

                          13.

                          rs1490412196 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            X:13761683 (GRCh38)
                            X:13779802 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:13761682:G:T
                            Gene:
                            OFD1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.00001/1 (GnomAD)
                            HGVS:

                            14.

                            rs1490397773 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              X:13760294 (GRCh38)
                              X:13778413 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:13760293:C:T
                              Gene:
                              OFD1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.00001/1 (GnomAD)
                              HGVS:
                              NC_000023.11:g.13760294C>T, NC_000023.10:g.13778413C>T, NG_008872.1:g.30582C>T, NM_003611.3:c.1834C>T, NM_003611.2:c.1834C>T, NM_001330210.2:c.1414C>T, NM_001330210.1:c.1414C>T, NM_001330209.2:c.1714C>T, NM_001330209.1:c.1714C>T, XM_017029909.2:c.1414C>T, XM_017029909.1:c.1414C>T, XM_017029911.2:c.892C>T, XM_017029911.1:c.892C>T, XM_011545598.2:c.559C>T, XM_011545598.1:c.559C>T, XM_047442584.1:c.1855C>T, XM_047442588.1:c.1855C>T, XM_047442583.1:c.1855C>T, XM_047442585.1:c.1855C>T, XM_047442586.1:c.1735C>T, XM_047442589.1:c.1735C>T, XM_047442591.1:c.1855C>T, XM_047442594.1:c.1855C>T, XM_047442593.1:c.1855C>T, XM_047442587.1:c.1834C>T, XM_047442590.1:c.1714C>T, XM_047442592.1:c.1834C>T, XM_047442595.1:c.1834C>T, XM_047442596.1:c.1714C>T, XM_047442597.1:c.1714C>T, NP_003602.1:p.Pro612Ser, NP_001317139.1:p.Pro472Ser, NP_001317138.1:p.Pro572Ser, XP_016885398.1:p.Pro472Ser, XP_016885400.1:p.Pro298Ser, XP_011543900.1:p.Pro187Ser, XP_047298540.1:p.Pro619Ser, XP_047298544.1:p.Pro619Ser, XP_047298539.1:p.Pro619Ser, XP_047298541.1:p.Pro619Ser, XP_047298542.1:p.Pro579Ser, XP_047298545.1:p.Pro579Ser, XP_047298547.1:p.Pro619Ser, XP_047298550.1:p.Pro619Ser, XP_047298549.1:p.Pro619Ser, XP_047298543.1:p.Pro612Ser, XP_047298546.1:p.Pro572Ser, XP_047298548.1:p.Pro612Ser, XP_047298551.1:p.Pro612Ser, XP_047298552.1:p.Pro572Ser, XP_047298553.1:p.Pro572Ser

                              15.

                              rs1490269107 [Homo sapiens]
                                Variant type:
                                INS
                                Alleles:
                                ->TCGGTGGTCGCCGTATCATTA [Show Flanks]
                                Chromosome:
                                X:13767135 (GRCh38)
                                X:13785255 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:13767135::TCGGTGGTCGCCGTATCATTA
                                Gene:
                                OFD1 (Varview)
                                Functional Consequence:
                                intron_variant,inframe_indel,coding_sequence_variant,genic_downstream_transcript_variant
                                Validated:
                                by cluster
                                HGVS:
                                NC_000023.11:g.13767135_13767136insTCGGTGGTCGCCGTATCATTA, NC_000023.10:g.13785254_13785255insTCGGTGGTCGCCGTATCATTA, NG_008872.1:g.37423_37424insTCGGTGGTCGCCGTATCATTA, NM_003611.3:c.2608_2609insTCGGTGGTCGCCGTATCATTA, NM_003611.2:c.2608_2609insTCGGTGGTCGCCGTATCATTA, NM_001330210.2:c.2188_2189insTCGGTGGTCGCCGTATCATTA, NM_001330210.1:c.2188_2189insTCGGTGGTCGCCGTATCATTA, NM_001330209.2:c.2488_2489insTCGGTGGTCGCCGTATCATTA, NM_001330209.1:c.2488_2489insTCGGTGGTCGCCGTATCATTA, XM_017029909.2:c.2188_2189insTCGGTGGTCGCCGTATCATTA, XM_017029909.1:c.2188_2189insTCGGTGGTCGCCGTATCATTA, XM_017029911.2:c.1666_1667insTCGGTGGTCGCCGTATCATTA, XM_017029911.1:c.1666_1667insTCGGTGGTCGCCGTATCATTA, XM_011545598.2:c.1333_1334insTCGGTGGTCGCCGTATCATTA, XM_011545598.1:c.1333_1334insTCGGTGGTCGCCGTATCATTA, XM_047442584.1:c.2629_2630insTCGGTGGTCGCCGTATCATTA, XM_047442588.1:c.2518_2519insTCGGTGGTCGCCGTATCATTA, XM_047442583.1:c.2629_2630insTCGGTGGTCGCCGTATCATTA, XM_047442585.1:c.2518_2519insTCGGTGGTCGCCGTATCATTA, XM_047442586.1:c.2509_2510insTCGGTGGTCGCCGTATCATTA, XM_047442589.1:c.2398_2399insTCGGTGGTCGCCGTATCATTA, XM_047442587.1:c.2497_2498insTCGGTGGTCGCCGTATCATTA, XM_047442590.1:c.2377_2378insTCGGTGGTCGCCGTATCATTA, NP_003602.1:p.Gln870delinsLeuGlyGlyArgArgIleIleLys, NP_001317139.1:p.Gln730delinsLeuGlyGlyArgArgIleIleLys, NP_001317138.1:p.Gln830delinsLeuGlyGlyArgArgIleIleLys, XP_016885398.1:p.Gln730delinsLeuGlyGlyArgArgIleIleLys, XP_016885400.1:p.Gln556delinsLeuGlyGlyArgArgIleIleLys, XP_011543900.1:p.Gln445delinsLeuGlyGlyArgArgIleIleLys, XP_047298540.1:p.Gln877delinsLeuGlyGlyArgArgIleIleLys, XP_047298544.1:p.Gln840delinsLeuGlyGlyArgArgIleIleLys, XP_047298539.1:p.Gln877delinsLeuGlyGlyArgArgIleIleLys, XP_047298541.1:p.Gln840delinsLeuGlyGlyArgArgIleIleLys, XP_047298542.1:p.Gln837delinsLeuGlyGlyArgArgIleIleLys, XP_047298545.1:p.Gln800delinsLeuGlyGlyArgArgIleIleLys, XP_047298543.1:p.Gln833delinsLeuGlyGlyArgArgIleIleLys, XP_047298546.1:p.Gln793delinsLeuGlyGlyArgArgIleIleLys

                                16.

                                rs1490256780 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  X:13747196 (GRCh38)
                                  X:13765315 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:13747195:C:A
                                  Gene:
                                  OFD1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.00001/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490080745 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G,T [Show Flanks]
                                    Chromosome:
                                    X:13755972 (GRCh38)
                                    X:13774091 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:13755971:A:G,NC_000023.11:13755971:A:T
                                    Gene:
                                    OFD1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:

                                    18.

                                    rs1489903948 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      X:13759656 (GRCh38)
                                      X:13777775 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:13759655:G:A,NC_000023.11:13759655:G:T
                                      Gene:
                                      OFD1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:

                                      19.

                                      rs1489836290 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C,G [Show Flanks]
                                        Chromosome:
                                        X:13735051 (GRCh38)
                                        X:13753170 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:13735050:T:C,NC_000023.11:13735050:T:G
                                        Gene:
                                        TRAPPC2 (Varview), OFD1 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        C=0.000015/4 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1489761936 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          X:13754202 (GRCh38)
                                          X:13772321 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:13754201:C:T
                                          Gene:
                                          OFD1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000142/2 (ALFA)
                                          T=0.000045/1 (TOMMO)
                                          T=0.000057/15 (TOPMED)
                                          T=0.000078/8 (GnomAD)
                                          HGVS:

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