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Items: 1 to 20 of 10900

1.

rs1491282352 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->TGT,TTGT,TTGTGTGT [Show Flanks]
    Chromosome:
    7:107764446 (GRCh38)
    7:107404892 (GRCh37)
    Canonical SPDI:
    NC_000007.14:107764446:T:TTGT,NC_000007.14:107764446:T:TTTGT,NC_000007.14:107764446:T:TTTGTGTGT
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTGT=0./0 (ALFA)
    HGVS:
    2.

    rs1491253833 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->C [Show Flanks]
      Chromosome:
      7:107769999 (GRCh38)
      7:107410445 (GRCh37)
      Canonical SPDI:
      NC_000007.14:107769999:C:CC
      Gene:
      SLC26A3 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      CC=0./0 (ALFA)
      HGVS:
      3.

      rs1491252490 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TT>- [Show Flanks]
        Chromosome:
        7:107764446 (GRCh38)
        7:107404891 (GRCh37)
        Canonical SPDI:
        NC_000007.14:107764445:TT:
        Validated:
        by frequency,by alfa
        MAF:
        -=0.0002/1 (ALFA)
        HGVS:
        4.

        rs1491205665 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CC>- [Show Flanks]
          Chromosome:
          7:107769992 (GRCh38)
          7:107410437 (GRCh37)
          Canonical SPDI:
          NC_000007.14:107769991:CC:
          Gene:
          SLC26A3 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0./0 (ALFA)
          -=0.000112/15 (GnomAD)
          -=0.000312/2 (1000Genomes)
          HGVS:
          5.

          rs1491088641 has merged into rs10681903 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            7:107778371 (GRCh38)
            7:107418816 (GRCh37)
            Canonical SPDI:
            NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107778360:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            SLC26A3 (Varview)
            Functional Consequence:
            intron_variant
            Clinical significance:
            benign
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTT=0./0 (ALFA)
            -=0.1817/910 (1000Genomes)
            HGVS:
            NC_000007.14:g.107778371_107778377del, NC_000007.14:g.107778372_107778377del, NC_000007.14:g.107778373_107778377del, NC_000007.14:g.107778374_107778377del, NC_000007.14:g.107778375_107778377del, NC_000007.14:g.107778376_107778377del, NC_000007.14:g.107778377del, NC_000007.14:g.107778377dup, NC_000007.14:g.107778376_107778377dup, NC_000007.14:g.107778375_107778377dup, NC_000007.14:g.107778374_107778377dup, NC_000007.14:g.107778373_107778377dup, NC_000007.14:g.107778372_107778377dup, NC_000007.14:g.107778371_107778377dup, NC_000007.14:g.107778370_107778377dup, NC_000007.14:g.107778369_107778377dup, NC_000007.14:g.107778368_107778377dup, NC_000007.14:g.107778367_107778377dup, NC_000007.14:g.107778366_107778377dup, NC_000007.14:g.107778365_107778377dup, NC_000007.14:g.107778364_107778377dup, NC_000007.14:g.107778363_107778377dup, NC_000007.14:g.107778362_107778377dup, NC_000007.14:g.107778361_107778377dup, NC_000007.14:g.107778377_107778378insTTTTTTTTTTTTTTTTTT, NC_000007.14:g.107778377_107778378insTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.107778377_107778378insTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.107778377_107778378insTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.107778377_107778378insTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.107778377_107778378insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.107778377_107778378insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.107778377_107778378insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.107778377_107778378insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.107778377_107778378insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107418816_107418822del, NC_000007.13:g.107418817_107418822del, NC_000007.13:g.107418818_107418822del, NC_000007.13:g.107418819_107418822del, NC_000007.13:g.107418820_107418822del, NC_000007.13:g.107418821_107418822del, NC_000007.13:g.107418822del, NC_000007.13:g.107418822dup, NC_000007.13:g.107418821_107418822dup, NC_000007.13:g.107418820_107418822dup, NC_000007.13:g.107418819_107418822dup, NC_000007.13:g.107418818_107418822dup, NC_000007.13:g.107418817_107418822dup, NC_000007.13:g.107418816_107418822dup, NC_000007.13:g.107418815_107418822dup, NC_000007.13:g.107418814_107418822dup, NC_000007.13:g.107418813_107418822dup, NC_000007.13:g.107418812_107418822dup, NC_000007.13:g.107418811_107418822dup, NC_000007.13:g.107418810_107418822dup, NC_000007.13:g.107418809_107418822dup, NC_000007.13:g.107418808_107418822dup, NC_000007.13:g.107418807_107418822dup, NC_000007.13:g.107418806_107418822dup, NC_000007.13:g.107418822_107418823insTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107418822_107418823insTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107418822_107418823insTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107418822_107418823insTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107418822_107418823insTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107418822_107418823insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107418822_107418823insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107418822_107418823insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107418822_107418823insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107418822_107418823insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008046.1:g.29867_29873del, NG_008046.1:g.29868_29873del, NG_008046.1:g.29869_29873del, NG_008046.1:g.29870_29873del, NG_008046.1:g.29871_29873del, NG_008046.1:g.29872_29873del, NG_008046.1:g.29873del, NG_008046.1:g.29873dup, NG_008046.1:g.29872_29873dup, NG_008046.1:g.29871_29873dup, NG_008046.1:g.29870_29873dup, NG_008046.1:g.29869_29873dup, NG_008046.1:g.29868_29873dup, NG_008046.1:g.29867_29873dup, NG_008046.1:g.29866_29873dup, NG_008046.1:g.29865_29873dup, NG_008046.1:g.29864_29873dup, NG_008046.1:g.29863_29873dup, NG_008046.1:g.29862_29873dup, NG_008046.1:g.29861_29873dup, NG_008046.1:g.29860_29873dup, NG_008046.1:g.29859_29873dup, NG_008046.1:g.29858_29873dup, NG_008046.1:g.29857_29873dup, NG_008046.1:g.29873_29874insAAAAAAAAAAAAAAAAAA, NG_008046.1:g.29873_29874insAAAAAAAAAAAAAAAAAAA, NG_008046.1:g.29873_29874insAAAAAAAAAAAAAAAAAAAA, NG_008046.1:g.29873_29874insAAAAAAAAAAAAAAAAAAAAA, NG_008046.1:g.29873_29874insAAAAAAAAAAAAAAAAAAAAAA, NG_008046.1:g.29873_29874insAAAAAAAAAAAAAAAAAAAAAAAA, NG_008046.1:g.29873_29874insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008046.1:g.29873_29874insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008046.1:g.29873_29874insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008046.1:g.29873_29874insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            6.

            rs1491056987 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              GC>- [Show Flanks]
              Chromosome:
              7:107797168 (GRCh38)
              7:107437613 (GRCh37)
              Canonical SPDI:
              NC_000007.14:107797167:GC:
              Gene:
              SLC26A3 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by cluster
              MAF:
              -=0.002655/17 (1000Genomes)
              -=0.004222/592 (GnomAD)
              HGVS:
              7.

              rs1491027530 has merged into rs71861759 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                7:107788794 (GRCh38)
                7:107429239 (GRCh37)
                Canonical SPDI:
                NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:107788784:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                SLC26A3 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTTTT=0./0 (ALFA)
                T=0.4163/2085 (1000Genomes)
                HGVS:
                NC_000007.14:g.107788794_107788801del, NC_000007.14:g.107788797_107788801del, NC_000007.14:g.107788799_107788801del, NC_000007.14:g.107788800_107788801del, NC_000007.14:g.107788801del, NC_000007.14:g.107788785_107788801T[17]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.107788785_107788801T[17]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.107788801dup, NC_000007.14:g.107788800_107788801dup, NC_000007.14:g.107788799_107788801dup, NC_000007.14:g.107788785_107788801T[20]CTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.107788798_107788801dup, NC_000007.14:g.107788785_107788801T[21]CTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.107788785_107788801T[21]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.107788797_107788801dup, NC_000007.14:g.107788796_107788801dup, NC_000007.14:g.107788785_107788801T[23]CTTTTT[2]T[16], NC_000007.14:g.107788795_107788801dup, NC_000007.14:g.107788794_107788801dup, NC_000007.14:g.107788792_107788801dup, NC_000007.14:g.107788791_107788801dup, NC_000007.14:g.107788785_107788801T[28]CTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.107788790_107788801dup, NC_000007.14:g.107788785_107788801T[29]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.107788789_107788801dup, NC_000007.14:g.107788785_107788801T[30]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.107788785_107788801T[30]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.107788788_107788801dup, NC_000007.14:g.107788787_107788801dup, NC_000007.14:g.107788786_107788801dup, NC_000007.14:g.107788785_107788801dup, NC_000007.14:g.107788801_107788802insTTTTTTTTTTTTTTTTTT, NC_000007.14:g.107788801_107788802insTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.107788801_107788802insTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.107788801_107788802insTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.107788801_107788802insTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.107788801_107788802insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.107788785_107788801T[41]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.107788801_107788802insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.107788801_107788802insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.107788801_107788802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.107788801_107788802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.107788801_107788802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.107788801_107788802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.107788801_107788802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.107788801_107788802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.107788801_107788802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107429239_107429246del, NC_000007.13:g.107429242_107429246del, NC_000007.13:g.107429244_107429246del, NC_000007.13:g.107429245_107429246del, NC_000007.13:g.107429246del, NC_000007.13:g.107429230_107429246T[17]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.107429230_107429246T[17]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.107429246dup, NC_000007.13:g.107429245_107429246dup, NC_000007.13:g.107429244_107429246dup, NC_000007.13:g.107429230_107429246T[20]CTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.107429243_107429246dup, NC_000007.13:g.107429230_107429246T[21]CTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.107429230_107429246T[21]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.107429242_107429246dup, NC_000007.13:g.107429241_107429246dup, NC_000007.13:g.107429230_107429246T[23]CTTTTT[2]T[16], NC_000007.13:g.107429240_107429246dup, NC_000007.13:g.107429239_107429246dup, NC_000007.13:g.107429237_107429246dup, NC_000007.13:g.107429236_107429246dup, NC_000007.13:g.107429230_107429246T[28]CTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.107429235_107429246dup, NC_000007.13:g.107429230_107429246T[29]CTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.107429234_107429246dup, NC_000007.13:g.107429230_107429246T[30]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.107429230_107429246T[30]CTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.107429233_107429246dup, NC_000007.13:g.107429232_107429246dup, NC_000007.13:g.107429231_107429246dup, NC_000007.13:g.107429230_107429246dup, NC_000007.13:g.107429246_107429247insTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107429246_107429247insTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107429246_107429247insTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107429246_107429247insTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107429246_107429247insTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107429246_107429247insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107429230_107429246T[41]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.107429246_107429247insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107429246_107429247insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107429246_107429247insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107429246_107429247insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107429246_107429247insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107429246_107429247insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107429246_107429247insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107429246_107429247insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.107429246_107429247insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008046.1:g.19442_19449del, NG_008046.1:g.19445_19449del, NG_008046.1:g.19447_19449del, NG_008046.1:g.19448_19449del, NG_008046.1:g.19449del, NG_008046.1:g.19433_19449A[21]GAAAAAAAAAAAAAAAAA[1], NG_008046.1:g.19433_19449A[28]GAAAAAAAAAAAAAAAAA[1], NG_008046.1:g.19449dup, NG_008046.1:g.19448_19449dup, NG_008046.1:g.19447_19449dup, NG_008046.1:g.19433_19449A[18]GAAAAAAAAAAAAAAAAAAAA[1], NG_008046.1:g.19446_19449dup, NG_008046.1:g.19433_19449A[18]GAAAAAAAAAAAAAAAAAAAAA[1], NG_008046.1:g.19433_19449A[22]GAAAAAAAAAAAAAAAAAAAAA[1], NG_008046.1:g.19445_19449dup, NG_008046.1:g.19444_19449dup, NG_008046.1:g.19433_19449A[21]GAAAAA[2]A[18], NG_008046.1:g.19443_19449dup, NG_008046.1:g.19442_19449dup, NG_008046.1:g.19440_19449dup, NG_008046.1:g.19439_19449dup, NG_008046.1:g.19433_19449A[18]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_008046.1:g.19438_19449dup, NG_008046.1:g.19433_19449A[23]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_008046.1:g.19437_19449dup, NG_008046.1:g.19433_19449A[21]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_008046.1:g.19433_19449A[22]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_008046.1:g.19436_19449dup, NG_008046.1:g.19435_19449dup, NG_008046.1:g.19434_19449dup, NG_008046.1:g.19433_19449dup, NG_008046.1:g.19449_19450insAAAAAAAAAAAAAAAAAA, NG_008046.1:g.19449_19450insAAAAAAAAAAAAAAAAAAA, NG_008046.1:g.19449_19450insAAAAAAAAAAAAAAAAAAAA, NG_008046.1:g.19449_19450insAAAAAAAAAAAAAAAAAAAAAA, NG_008046.1:g.19449_19450insAAAAAAAAAAAAAAAAAAAAAAA, NG_008046.1:g.19449_19450insAAAAAAAAAAAAAAAAAAAAAAAA, NG_008046.1:g.19433_19449A[53]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_008046.1:g.19449_19450insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008046.1:g.19449_19450insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008046.1:g.19449_19450insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008046.1:g.19449_19450insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008046.1:g.19449_19450insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008046.1:g.19449_19450insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008046.1:g.19449_19450insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008046.1:g.19449_19450insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008046.1:g.19449_19450insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                8.

                rs1490924854 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  7:107796422 (GRCh38)
                  7:107436867 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:107796421:T:C
                  Gene:
                  SLC26A3 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1490921771 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    7:107782121 (GRCh38)
                    7:107422566 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:107782120:G:A
                    Gene:
                    SLC26A3 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1490762221 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTAC>- [Show Flanks]
                      Chromosome:
                      7:107773243 (GRCh38)
                      7:107413688 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:107773241:CTTAC:C
                      Gene:
                      SLC26A3 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      -=0.000007/1 (GnomAD)
                      -=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1490669050 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        7:107767673 (GRCh38)
                        7:107408118 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:107767672:T:G
                        Gene:
                        SLC26A3 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1490649007 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          7:107766458 (GRCh38)
                          7:107406903 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:107766457:T:C
                          Gene:
                          SLC26A3 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000015/4 (TOPMED)
                          C=0.000021/3 (GnomAD)
                          HGVS:
                          13.

                          rs1490601271 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            GTAT>- [Show Flanks]
                            Chromosome:
                            7:107764494 (GRCh38)
                            7:107404939 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:107764492:TGTAT:T
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1490434038 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              7:107796841 (GRCh38)
                              7:107437286 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:107796840:G:A
                              Gene:
                              SLC26A3 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.00086/14 (ALFA)
                              HGVS:
                              15.

                              rs1490411615 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                7:107782493 (GRCh38)
                                7:107422938 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:107782492:C:A
                                Gene:
                                SLC26A3 (Varview)
                                Functional Consequence:
                                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:
                                16.

                                rs1490360513 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  7:107781608 (GRCh38)
                                  7:107422053 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:107781607:T:A
                                  Gene:
                                  SLC26A3 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490346168 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    7:107766620 (GRCh38)
                                    7:107407065 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:107766619:T:C
                                    Gene:
                                    SLC26A3 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0.000071/1 (ALFA)
                                    C=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490202375 has merged into rs11356401 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                      Chromosome:
                                      7:107801935 (GRCh38)
                                      7:107442380 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:107801925:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:107801925:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:107801925:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:107801925:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:107801925:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:107801925:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:107801925:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:107801925:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:107801925:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:107801925:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:107801925:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:107801925:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:107801925:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:107801925:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:107801925:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                      Gene:
                                      SLC26A3 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAAAAAAAAAAA=0./0 (ALFA)
                                      -=0.3608/1807 (1000Genomes)
                                      HGVS:
                                      NC_000007.14:g.107801935_107801944del, NC_000007.14:g.107801938_107801944del, NC_000007.14:g.107801939_107801944del, NC_000007.14:g.107801941_107801944del, NC_000007.14:g.107801942_107801944del, NC_000007.14:g.107801943_107801944del, NC_000007.14:g.107801944del, NC_000007.14:g.107801944dup, NC_000007.14:g.107801943_107801944dup, NC_000007.14:g.107801942_107801944dup, NC_000007.14:g.107801941_107801944dup, NC_000007.14:g.107801940_107801944dup, NC_000007.14:g.107801939_107801944dup, NC_000007.14:g.107801936_107801944dup, NC_000007.14:g.107801933_107801944dup, NC_000007.13:g.107442380_107442389del, NC_000007.13:g.107442383_107442389del, NC_000007.13:g.107442384_107442389del, NC_000007.13:g.107442386_107442389del, NC_000007.13:g.107442387_107442389del, NC_000007.13:g.107442388_107442389del, NC_000007.13:g.107442389del, NC_000007.13:g.107442389dup, NC_000007.13:g.107442388_107442389dup, NC_000007.13:g.107442387_107442389dup, NC_000007.13:g.107442386_107442389dup, NC_000007.13:g.107442385_107442389dup, NC_000007.13:g.107442384_107442389dup, NC_000007.13:g.107442381_107442389dup, NC_000007.13:g.107442378_107442389dup, NG_008046.1:g.6299_6308del, NG_008046.1:g.6302_6308del, NG_008046.1:g.6303_6308del, NG_008046.1:g.6305_6308del, NG_008046.1:g.6306_6308del, NG_008046.1:g.6307_6308del, NG_008046.1:g.6308del, NG_008046.1:g.6308dup, NG_008046.1:g.6307_6308dup, NG_008046.1:g.6306_6308dup, NG_008046.1:g.6305_6308dup, NG_008046.1:g.6304_6308dup, NG_008046.1:g.6303_6308dup, NG_008046.1:g.6300_6308dup, NG_008046.1:g.6297_6308dup
                                      19.

                                      rs1490170303 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        7:107797808 (GRCh38)
                                        7:107438253 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:107797807:T:C
                                        Gene:
                                        SLC26A3 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000015/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490103330 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          7:107781616 (GRCh38)
                                          7:107422061 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:107781615:C:A
                                          Gene:
                                          SLC26A3 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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