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Items: 1 to 20 of 12528

1.

rs1491569377 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    13:95517933 (GRCh38)
    13:96170187 (GRCh37)
    Canonical SPDI:
    NC_000013.11:95517932:CA:
    Gene:
    CLDN10 (Varview), CLDN10-AS1 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491527134 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->AT [Show Flanks]
      Chromosome:
      13:95507627 (GRCh38)
      13:96159882 (GRCh37)
      Canonical SPDI:
      NC_000013.11:95507627::AT
      Gene:
      CLDN10 (Varview), CLDN10-AS1 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      AT=0./0 (ALFA)
      AT=0.000055/7 (GnomAD)
      HGVS:
      3.

      rs1491480350 has merged into rs796410360 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        A>-,AA,AAAA,AAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        13:95495760 (GRCh38)
        13:96148014 (GRCh37)
        Canonical SPDI:
        NC_000013.11:95495759:AAAA:AAA,NC_000013.11:95495759:AAAA:AAAAA,NC_000013.11:95495759:AAAA:AAAAAAA,NC_000013.11:95495759:AAAA:AAAAAAAA,NC_000013.11:95495759:AAAA:AAAAAAAAAAAAAAAAAAAA
        Gene:
        CLDN10 (Varview), CLDN10-AS1 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAA=0./0 (ALFA)
        -=0.000157/18 (GnomAD)
        AAAA=0.00093/25 (TOMMO)
        HGVS:
        4.

        rs1491449297 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CT>- [Show Flanks]
          Chromosome:
          13:95531539 (GRCh38)
          13:96183793 (GRCh37)
          Canonical SPDI:
          NC_000013.11:95531538:CT:
          Gene:
          CLDN10 (Varview), CLDN10-AS1 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0./0 (ALFA)
          -=0.000034/9 (TOPMED)
          -=0.000036/5 (GnomAD)
          HGVS:
          5.

          rs1491389906 has merged into rs58919737 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            13:95488958 (GRCh38)
            13:96141212 (GRCh37)
            Canonical SPDI:
            NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:95488950:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            CLDN10 (Varview), CLDN10-AS1 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTT=0./0 (ALFA)
            HGVS:
            NC_000013.11:g.95488958_95488970del, NC_000013.11:g.95488959_95488970del, NC_000013.11:g.95488960_95488970del, NC_000013.11:g.95488961_95488970del, NC_000013.11:g.95488962_95488970del, NC_000013.11:g.95488964_95488970del, NC_000013.11:g.95488965_95488970del, NC_000013.11:g.95488966_95488970del, NC_000013.11:g.95488967_95488970del, NC_000013.11:g.95488968_95488970del, NC_000013.11:g.95488969_95488970del, NC_000013.11:g.95488970del, NC_000013.11:g.95488970dup, NC_000013.11:g.95488969_95488970dup, NC_000013.11:g.95488968_95488970dup, NC_000013.11:g.95488967_95488970dup, NC_000013.11:g.95488966_95488970dup, NC_000013.11:g.95488965_95488970dup, NC_000013.11:g.95488964_95488970dup, NC_000013.11:g.95488963_95488970dup, NC_000013.11:g.95488962_95488970dup, NC_000013.11:g.95488961_95488970dup, NC_000013.11:g.95488960_95488970dup, NC_000013.11:g.95488959_95488970dup, NC_000013.11:g.95488958_95488970dup, NC_000013.11:g.95488957_95488970dup, NC_000013.11:g.95488956_95488970dup, NC_000013.11:g.95488953_95488970dup, NC_000013.11:g.95488970_95488971insTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.95488970_95488971insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.95488970_95488971insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.96141212_96141224del, NC_000013.10:g.96141213_96141224del, NC_000013.10:g.96141214_96141224del, NC_000013.10:g.96141215_96141224del, NC_000013.10:g.96141216_96141224del, NC_000013.10:g.96141218_96141224del, NC_000013.10:g.96141219_96141224del, NC_000013.10:g.96141220_96141224del, NC_000013.10:g.96141221_96141224del, NC_000013.10:g.96141222_96141224del, NC_000013.10:g.96141223_96141224del, NC_000013.10:g.96141224del, NC_000013.10:g.96141224dup, NC_000013.10:g.96141223_96141224dup, NC_000013.10:g.96141222_96141224dup, NC_000013.10:g.96141221_96141224dup, NC_000013.10:g.96141220_96141224dup, NC_000013.10:g.96141219_96141224dup, NC_000013.10:g.96141218_96141224dup, NC_000013.10:g.96141217_96141224dup, NC_000013.10:g.96141216_96141224dup, NC_000013.10:g.96141215_96141224dup, NC_000013.10:g.96141214_96141224dup, NC_000013.10:g.96141213_96141224dup, NC_000013.10:g.96141212_96141224dup, NC_000013.10:g.96141211_96141224dup, NC_000013.10:g.96141210_96141224dup, NC_000013.10:g.96141207_96141224dup, NC_000013.10:g.96141224_96141225insTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.96141224_96141225insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.96141224_96141225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047100.1:g.60360_60372del, NG_047100.1:g.60361_60372del, NG_047100.1:g.60362_60372del, NG_047100.1:g.60363_60372del, NG_047100.1:g.60364_60372del, NG_047100.1:g.60366_60372del, NG_047100.1:g.60367_60372del, NG_047100.1:g.60368_60372del, NG_047100.1:g.60369_60372del, NG_047100.1:g.60370_60372del, NG_047100.1:g.60371_60372del, NG_047100.1:g.60372del, NG_047100.1:g.60372dup, NG_047100.1:g.60371_60372dup, NG_047100.1:g.60370_60372dup, NG_047100.1:g.60369_60372dup, NG_047100.1:g.60368_60372dup, NG_047100.1:g.60367_60372dup, NG_047100.1:g.60366_60372dup, NG_047100.1:g.60365_60372dup, NG_047100.1:g.60364_60372dup, NG_047100.1:g.60363_60372dup, NG_047100.1:g.60362_60372dup, NG_047100.1:g.60361_60372dup, NG_047100.1:g.60360_60372dup, NG_047100.1:g.60359_60372dup, NG_047100.1:g.60358_60372dup, NG_047100.1:g.60355_60372dup, NG_047100.1:g.60372_60373insTTTTTTTTTTTTTTTTTTTTTT, NG_047100.1:g.60372_60373insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047100.1:g.60372_60373insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            6.

            rs1491288100 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->GAAAAAAAAA [Show Flanks]
              Chromosome:
              13:95484866 (GRCh38)
              13:96137121 (GRCh37)
              Canonical SPDI:
              NC_000013.11:95484866:AAAAAAAAA:AAAAAAAAAGAAAAAAAAA
              Gene:
              CLDN10 (Varview), CLDN10-AS1 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              AAAAAAAAAGAAAAAAAAA=0.00008/1 (ALFA)
              HGVS:
              7.

              rs1491279798 [Homo sapiens]
                Variant type:
                SNV:
                Alleles:
                AT>-
                Chromosome:
                no mapping
                Canonical SPDI:
                8.

                rs1491182291 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->ATT [Show Flanks]
                  Chromosome:
                  13:95524860 (GRCh38)
                  13:96177115 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:95524860:TT:TTATT
                  Gene:
                  CLDN10 (Varview), CLDN10-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  TTA=0.002/1 (NorthernSweden)
                  HGVS:
                  9.

                  rs1491160361 has merged into rs35780641 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAAAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    13:95517943 (GRCh38)
                    13:96170197 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:95517933:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:95517933:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:95517933:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:95517933:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:95517933:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:95517933:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:95517933:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:95517933:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:95517933:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95517933:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95517933:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95517933:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95517933:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95517933:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95517933:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95517933:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95517933:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95517933:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                    Gene:
                    CLDN10 (Varview), CLDN10-AS1 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAAA=0./0 (ALFA)
                    HGVS:
                    NC_000013.11:g.95517943_95517954del, NC_000013.11:g.95517945_95517954del, NC_000013.11:g.95517948_95517954del, NC_000013.11:g.95517949_95517954del, NC_000013.11:g.95517951_95517954del, NC_000013.11:g.95517952_95517954del, NC_000013.11:g.95517953_95517954del, NC_000013.11:g.95517954del, NC_000013.11:g.95517954dup, NC_000013.11:g.95517953_95517954dup, NC_000013.11:g.95517952_95517954dup, NC_000013.11:g.95517951_95517954dup, NC_000013.11:g.95517950_95517954dup, NC_000013.11:g.95517949_95517954dup, NC_000013.11:g.95517948_95517954dup, NC_000013.11:g.95517947_95517954dup, NC_000013.11:g.95517946_95517954dup, NC_000013.11:g.95517954_95517955insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.96170197_96170208del, NC_000013.10:g.96170199_96170208del, NC_000013.10:g.96170202_96170208del, NC_000013.10:g.96170203_96170208del, NC_000013.10:g.96170205_96170208del, NC_000013.10:g.96170206_96170208del, NC_000013.10:g.96170207_96170208del, NC_000013.10:g.96170208del, NC_000013.10:g.96170208dup, NC_000013.10:g.96170207_96170208dup, NC_000013.10:g.96170206_96170208dup, NC_000013.10:g.96170205_96170208dup, NC_000013.10:g.96170204_96170208dup, NC_000013.10:g.96170203_96170208dup, NC_000013.10:g.96170202_96170208dup, NC_000013.10:g.96170201_96170208dup, NC_000013.10:g.96170200_96170208dup, NC_000013.10:g.96170208_96170209insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047100.1:g.89345_89356del, NG_047100.1:g.89347_89356del, NG_047100.1:g.89350_89356del, NG_047100.1:g.89351_89356del, NG_047100.1:g.89353_89356del, NG_047100.1:g.89354_89356del, NG_047100.1:g.89355_89356del, NG_047100.1:g.89356del, NG_047100.1:g.89356dup, NG_047100.1:g.89355_89356dup, NG_047100.1:g.89354_89356dup, NG_047100.1:g.89353_89356dup, NG_047100.1:g.89352_89356dup, NG_047100.1:g.89351_89356dup, NG_047100.1:g.89350_89356dup, NG_047100.1:g.89349_89356dup, NG_047100.1:g.89348_89356dup, NG_047100.1:g.89356_89357insAAAAAAAAAAAAAAAAAAAAAAAAAAA
                    10.

                    rs1491118561 has merged into rs746231195 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAAAAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                      Chromosome:
                      13:95484874 (GRCh38)
                      13:96137128 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:95484865:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                      Gene:
                      CLDN10 (Varview), CLDN10-AS1 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAA=0./0 (ALFA)
                      -=0.0236/91 (ALSPAC)
                      HGVS:
                      NC_000013.11:g.95484874_95484895del, NC_000013.11:g.95484876_95484895del, NC_000013.11:g.95484877_95484895del, NC_000013.11:g.95484878_95484895del, NC_000013.11:g.95484879_95484895del, NC_000013.11:g.95484882_95484895del, NC_000013.11:g.95484883_95484895del, NC_000013.11:g.95484884_95484895del, NC_000013.11:g.95484885_95484895del, NC_000013.11:g.95484886_95484895del, NC_000013.11:g.95484887_95484895del, NC_000013.11:g.95484888_95484895del, NC_000013.11:g.95484889_95484895del, NC_000013.11:g.95484890_95484895del, NC_000013.11:g.95484891_95484895del, NC_000013.11:g.95484892_95484895del, NC_000013.11:g.95484893_95484895del, NC_000013.11:g.95484894_95484895del, NC_000013.11:g.95484895del, NC_000013.11:g.95484895dup, NC_000013.11:g.95484894_95484895dup, NC_000013.11:g.95484893_95484895dup, NC_000013.11:g.95484892_95484895dup, NC_000013.11:g.95484891_95484895dup, NC_000013.11:g.95484890_95484895dup, NC_000013.11:g.95484889_95484895dup, NC_000013.11:g.95484888_95484895dup, NC_000013.11:g.95484895_95484896insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.96137128_96137149del, NC_000013.10:g.96137130_96137149del, NC_000013.10:g.96137131_96137149del, NC_000013.10:g.96137132_96137149del, NC_000013.10:g.96137133_96137149del, NC_000013.10:g.96137136_96137149del, NC_000013.10:g.96137137_96137149del, NC_000013.10:g.96137138_96137149del, NC_000013.10:g.96137139_96137149del, NC_000013.10:g.96137140_96137149del, NC_000013.10:g.96137141_96137149del, NC_000013.10:g.96137142_96137149del, NC_000013.10:g.96137143_96137149del, NC_000013.10:g.96137144_96137149del, NC_000013.10:g.96137145_96137149del, NC_000013.10:g.96137146_96137149del, NC_000013.10:g.96137147_96137149del, NC_000013.10:g.96137148_96137149del, NC_000013.10:g.96137149del, NC_000013.10:g.96137149dup, NC_000013.10:g.96137148_96137149dup, NC_000013.10:g.96137147_96137149dup, NC_000013.10:g.96137146_96137149dup, NC_000013.10:g.96137145_96137149dup, NC_000013.10:g.96137144_96137149dup, NC_000013.10:g.96137143_96137149dup, NC_000013.10:g.96137142_96137149dup, NC_000013.10:g.96137149_96137150insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047100.1:g.56276_56297del, NG_047100.1:g.56278_56297del, NG_047100.1:g.56279_56297del, NG_047100.1:g.56280_56297del, NG_047100.1:g.56281_56297del, NG_047100.1:g.56284_56297del, NG_047100.1:g.56285_56297del, NG_047100.1:g.56286_56297del, NG_047100.1:g.56287_56297del, NG_047100.1:g.56288_56297del, NG_047100.1:g.56289_56297del, NG_047100.1:g.56290_56297del, NG_047100.1:g.56291_56297del, NG_047100.1:g.56292_56297del, NG_047100.1:g.56293_56297del, NG_047100.1:g.56294_56297del, NG_047100.1:g.56295_56297del, NG_047100.1:g.56296_56297del, NG_047100.1:g.56297del, NG_047100.1:g.56297dup, NG_047100.1:g.56296_56297dup, NG_047100.1:g.56295_56297dup, NG_047100.1:g.56294_56297dup, NG_047100.1:g.56293_56297dup, NG_047100.1:g.56292_56297dup, NG_047100.1:g.56291_56297dup, NG_047100.1:g.56290_56297dup, NG_047100.1:g.56297_56298insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                      11.

                      rs1490972901 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        13:95527803 (GRCh38)
                        13:96180057 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:95527802:C:T
                        Gene:
                        CLDN10 (Varview), CLDN10-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000071/1 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490891332 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          13:95521105 (GRCh38)
                          13:96173359 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:95521104:A:G
                          Gene:
                          CLDN10 (Varview), CLDN10-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000023/6 (TOPMED)
                          G=0.000029/4 (GnomAD)
                          HGVS:
                          13.

                          rs1490829955 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            13:95511821 (GRCh38)
                            13:96164075 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:95511820:C:T
                            Gene:
                            CLDN10 (Varview), CLDN10-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1490804135 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              13:95513838 (GRCh38)
                              13:96166092 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:95513837:A:G
                              Gene:
                              CLDN10 (Varview), CLDN10-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_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:
                              15.

                              rs1490749949 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                13:95498378 (GRCh38)
                                13:96150632 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:95498377:A:G
                                Gene:
                                CLDN10 (Varview), CLDN10-AS1 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1490725962 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  13:95484389 (GRCh38)
                                  13:96136643 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:95484388:A:G
                                  Gene:
                                  CLDN10 (Varview), CLDN10-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000071/1 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490691606 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G,T [Show Flanks]
                                    Chromosome:
                                    13:95512617 (GRCh38)
                                    13:96164871 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:95512616:A:G,NC_000013.11:95512616:A:T
                                    Gene:
                                    CLDN10 (Varview), CLDN10-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000019/5 (TOPMED)
                                    T=0.000546/1 (Korea1K)
                                    HGVS:
                                    18.

                                    rs1490652524 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      13:95529480 (GRCh38)
                                      13:96181734 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:95529479:T:G
                                      Gene:
                                      CLDN10 (Varview), CLDN10-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000008/2 (TOPMED)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490495168 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        13:95506420 (GRCh38)
                                        13:96158674 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:95506419:C:A
                                        Gene:
                                        CLDN10 (Varview), CLDN10-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490477480 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          13:95492179 (GRCh38)
                                          13:96144433 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:95492178:C:T
                                          Gene:
                                          CLDN10 (Varview), CLDN10-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:

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