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Items: 1 to 20 of 10150

1.

rs1491515431 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    GA>- [Show Flanks]
    Chromosome:
    15:81372349 (GRCh38)
    15:81664690 (GRCh37)
    Canonical SPDI:
    NC_000015.10:81372348:GA:
    Gene:
    TMC3 (Varview), TMC3-AS1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.0016/19 (ALFA)
    HGVS:

    2.

    rs1491485383 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->C,CTC [Show Flanks]
      Chromosome:
      15:81351349 (GRCh38)
      15:81643691 (GRCh37)
      Canonical SPDI:
      NC_000015.10:81351349::C,NC_000015.10:81351349::CTC
      Gene:
      TMC3 (Varview), TMC3-AS1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      CTC=0./0 (ALFA)
      HGVS:

      3.

      rs1491318774 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->G [Show Flanks]
        Chromosome:
        15:81365685 (GRCh38)
        15:81658027 (GRCh37)
        Canonical SPDI:
        NC_000015.10:81365685:G:GG
        Gene:
        TMC3 (Varview), TMC3-AS1 (Varview)
        Functional Consequence:
        intron_variant
        HGVS:

        4.

        rs1491275128 has merged into rs371289786 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
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how Flanks]
          Chromosome:
          15:81372363 (GRCh38)
          15:81664704 (GRCh37)
          Canonical SPDI:
          NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000015.10:81372349:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
          Gene:
          TMC3 (Varview), TMC3-AS1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          ACACACACACACACACACA=0./0 (ALFA)
          ACACACACAC=0.3726/1866 (1000Genomes)
          HGVS:
          NC_000015.10:g.81372351CA[6], NC_000015.10:g.81372351CA[9], NC_000015.10:g.81372351CA[11], NC_000015.10:g.81372351CA[12], NC_000015.10:g.81372351CA[13], NC_000015.10:g.81372351CA[14], NC_000015.10:g.81372351CA[15], NC_000015.10:g.81372351CA[16], NC_000015.10:g.81372351CA[17], NC_000015.10:g.81372351CA[18], NC_000015.10:g.81372351CA[19], NC_000015.10:g.81372351CA[20], NC_000015.10:g.81372351CA[21], NC_000015.10:g.81372351CA[22], NC_000015.10:g.81372351CA[23], NC_000015.10:g.81372351CA[24], NC_000015.10:g.81372351CA[25], NC_000015.10:g.81372351CA[26], NC_000015.10:g.81372351CA[27], NC_000015.10:g.81372351CA[28], NC_000015.10:g.81372351CA[30], NC_000015.10:g.81372351CA[31], NC_000015.10:g.81372351CA[32], NC_000015.10:g.81372351CA[33], NC_000015.10:g.81372351CA[34], NC_000015.10:g.81372351CA[35], NC_000015.10:g.81372351CA[36], NC_000015.10:g.81372351CA[37], NC_000015.9:g.81664692CA[6], NC_000015.9:g.81664692CA[9], NC_000015.9:g.81664692CA[11], NC_000015.9:g.81664692CA[12], NC_000015.9:g.81664692CA[13], NC_000015.9:g.81664692CA[14], NC_000015.9:g.81664692CA[15], NC_000015.9:g.81664692CA[16], NC_000015.9:g.81664692CA[17], NC_000015.9:g.81664692CA[18], NC_000015.9:g.81664692CA[19], NC_000015.9:g.81664692CA[20], NC_000015.9:g.81664692CA[21], NC_000015.9:g.81664692CA[22], NC_000015.9:g.81664692CA[23], NC_000015.9:g.81664692CA[24], NC_000015.9:g.81664692CA[25], NC_000015.9:g.81664692CA[26], NC_000015.9:g.81664692CA[27], NC_000015.9:g.81664692CA[28], NC_000015.9:g.81664692CA[30], NC_000015.9:g.81664692CA[31], NC_000015.9:g.81664692CA[32], NC_000015.9:g.81664692CA[33], NC_000015.9:g.81664692CA[34], NC_000015.9:g.81664692CA[35], NC_000015.9:g.81664692CA[36], NC_000015.9:g.81664692CA[37], NG_054935.1:g.6671GT[6], NG_054935.1:g.6671GT[9], NG_054935.1:g.6671GT[11], NG_054935.1:g.6671GT[12], NG_054935.1:g.6671GT[13], NG_054935.1:g.6671GT[14], NG_054935.1:g.6671GT[15], NG_054935.1:g.6671GT[16], NG_054935.1:g.6671GT[17], NG_054935.1:g.6671GT[18], NG_054935.1:g.6671GT[19], NG_054935.1:g.6671GT[20], NG_054935.1:g.6671GT[21], NG_054935.1:g.6671GT[22], NG_054935.1:g.6671GT[23], NG_054935.1:g.6671GT[24], NG_054935.1:g.6671GT[25], NG_054935.1:g.6671GT[26], NG_054935.1:g.6671GT[27], NG_054935.1:g.6671GT[28], NG_054935.1:g.6671GT[30], NG_054935.1:g.6671GT[31], NG_054935.1:g.6671GT[32], NG_054935.1:g.6671GT[33], NG_054935.1:g.6671GT[34], NG_054935.1:g.6671GT[35], NG_054935.1:g.6671GT[36], NG_054935.1:g.6671GT[37]

          5.

          rs1491239314 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            15:81365670 (GRCh38)
            15:81658011 (GRCh37)
            Canonical SPDI:
            NC_000015.10:81365669:CA:
            Gene:
            TMC3 (Varview), TMC3-AS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0.0011/13 (ALFA)
            -=0.00002/1 (GnomAD)
            HGVS:

            6.

            rs1491169331 has merged into rs398043535 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              15:81365683 (GRCh38)
              15:81658024 (GRCh37)
              Canonical SPDI:
              NC_000015.10:81365670:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:81365670:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:81365670:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:81365670:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:81365670:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:81365670:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:81365670:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:81365670:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:81365670:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:81365670:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:81365670:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:81365670:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:81365670:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              TMC3 (Varview), TMC3-AS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAAAAA=0./0 (ALFA)
              -=0.0768/296 (ALSPAC)
              -=0.0782/290 (TWINSUK)
              HGVS:
              NC_000015.10:g.81365683_81365685del, NC_000015.10:g.81365684_81365685del, NC_000015.10:g.81365685del, NC_000015.10:g.81365685dup, NC_000015.10:g.81365684_81365685dup, NC_000015.10:g.81365683_81365685dup, NC_000015.10:g.81365682_81365685dup, NC_000015.10:g.81365680_81365685dup, NC_000015.10:g.81365679_81365685dup, NC_000015.10:g.81365678_81365685dup, NC_000015.10:g.81365677_81365685dup, NC_000015.10:g.81365676_81365685dup, NC_000015.10:g.81365671_81365685dup, NC_000015.9:g.81658024_81658026del, NC_000015.9:g.81658025_81658026del, NC_000015.9:g.81658026del, NC_000015.9:g.81658026dup, NC_000015.9:g.81658025_81658026dup, NC_000015.9:g.81658024_81658026dup, NC_000015.9:g.81658023_81658026dup, NC_000015.9:g.81658021_81658026dup, NC_000015.9:g.81658020_81658026dup, NC_000015.9:g.81658019_81658026dup, NC_000015.9:g.81658018_81658026dup, NC_000015.9:g.81658017_81658026dup, NC_000015.9:g.81658012_81658026dup, NG_054935.1:g.13405_13407del, NG_054935.1:g.13406_13407del, NG_054935.1:g.13407del, NG_054935.1:g.13407dup, NG_054935.1:g.13406_13407dup, NG_054935.1:g.13405_13407dup, NG_054935.1:g.13404_13407dup, NG_054935.1:g.13402_13407dup, NG_054935.1:g.13401_13407dup, NG_054935.1:g.13400_13407dup, NG_054935.1:g.13399_13407dup, NG_054935.1:g.13398_13407dup, NG_054935.1:g.13393_13407dup

              7.

              rs1491149641 has merged into rs35807579 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                15:81351358 (GRCh38)
                15:81643699 (GRCh37)
                Canonical SPDI:
                NC_000015.10:81351348:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000015.10:81351348:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:81351348:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:81351348:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:81351348:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:81351348:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:81351348:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:81351348:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:81351348:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:81351348:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:81351348:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:81351348:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:81351348:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:81351348:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:81351348:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:81351348:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                TMC3 (Varview), TMC3-AS1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTT=0./0 (ALFA)
                T=0.375/15 (GENOME_DK)
                HGVS:
                NC_000015.10:g.81351358_81351370del, NC_000015.10:g.81351359_81351370del, NC_000015.10:g.81351361_81351370del, NC_000015.10:g.81351362_81351370del, NC_000015.10:g.81351365_81351370del, NC_000015.10:g.81351367_81351370del, NC_000015.10:g.81351368_81351370del, NC_000015.10:g.81351369_81351370del, NC_000015.10:g.81351370del, NC_000015.10:g.81351370dup, NC_000015.10:g.81351369_81351370dup, NC_000015.10:g.81351368_81351370dup, NC_000015.10:g.81351367_81351370dup, NC_000015.10:g.81351366_81351370dup, NC_000015.10:g.81351365_81351370dup, NC_000015.10:g.81351370_81351371insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.81643699_81643711del, NC_000015.9:g.81643700_81643711del, NC_000015.9:g.81643702_81643711del, NC_000015.9:g.81643703_81643711del, NC_000015.9:g.81643706_81643711del, NC_000015.9:g.81643708_81643711del, NC_000015.9:g.81643709_81643711del, NC_000015.9:g.81643710_81643711del, NC_000015.9:g.81643711del, NC_000015.9:g.81643711dup, NC_000015.9:g.81643710_81643711dup, NC_000015.9:g.81643709_81643711dup, NC_000015.9:g.81643708_81643711dup, NC_000015.9:g.81643707_81643711dup, NC_000015.9:g.81643706_81643711dup, NC_000015.9:g.81643711_81643712insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054935.1:g.27717_27729del, NG_054935.1:g.27718_27729del, NG_054935.1:g.27720_27729del, NG_054935.1:g.27721_27729del, NG_054935.1:g.27724_27729del, NG_054935.1:g.27726_27729del, NG_054935.1:g.27727_27729del, NG_054935.1:g.27728_27729del, NG_054935.1:g.27729del, NG_054935.1:g.27729dup, NG_054935.1:g.27728_27729dup, NG_054935.1:g.27727_27729dup, NG_054935.1:g.27726_27729dup, NG_054935.1:g.27725_27729dup, NG_054935.1:g.27724_27729dup, NG_054935.1:g.27729_27730insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

                8.

                rs1491075853 has merged into rs59270312 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
                  Chromosome:
                  15:81360982 (GRCh38)
                  15:81653323 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:81360972:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000015.10:81360972:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:81360972:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:81360972:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:81360972:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:81360972:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:81360972:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:81360972:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:81360972:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
                  Gene:
                  TMC3 (Varview), TMC3-AS1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTTTTTTT=0./0 (ALFA)
                  T=0.15954/799 (1000Genomes)
                  T=0.3/12 (GENOME_DK)
                  T=0.375/3 (KOREAN)
                  HGVS:
                  NC_000015.10:g.81360982_81360988del, NC_000015.10:g.81360985_81360988del, NC_000015.10:g.81360986_81360988del, NC_000015.10:g.81360987_81360988del, NC_000015.10:g.81360988del, NC_000015.10:g.81360988dup, NC_000015.10:g.81360987_81360988dup, NC_000015.10:g.81360986_81360988dup, NC_000015.10:g.81360985_81360988dup, NC_000015.9:g.81653323_81653329del, NC_000015.9:g.81653326_81653329del, NC_000015.9:g.81653327_81653329del, NC_000015.9:g.81653328_81653329del, NC_000015.9:g.81653329del, NC_000015.9:g.81653329dup, NC_000015.9:g.81653328_81653329dup, NC_000015.9:g.81653327_81653329dup, NC_000015.9:g.81653326_81653329dup, NG_054935.1:g.18099_18105del, NG_054935.1:g.18102_18105del, NG_054935.1:g.18103_18105del, NG_054935.1:g.18104_18105del, NG_054935.1:g.18105del, NG_054935.1:g.18105dup, NG_054935.1:g.18104_18105dup, NG_054935.1:g.18103_18105dup, NG_054935.1:g.18102_18105dup

                  9.

                  rs1490935187 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    A>- [Show Flanks]
                    Chromosome:
                    15:81341177 (GRCh38)
                    15:81633518 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:81341176:AAAA:AAA
                    Gene:
                    TMC3 (Varview), TMC3-AS1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAA=0./0 (ALFA)
                    -=0.000011/3 (TOPMED)
                    -=0.000035/1 (TOMMO)
                    HGVS:

                    10.

                    rs1490874553 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      15:81356402 (GRCh38)
                      15:81648743 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:81356401:C:T
                      Gene:
                      TMC3 (Varview), TMC3-AS1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1490791477 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        A>- [Show Flanks]
                        Chromosome:
                        15:81350354 (GRCh38)
                        15:81642695 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:81350353:AAAA:AAA
                        Gene:
                        TMC3 (Varview), TMC3-AS1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        AAA=0.000071/1 (ALFA)
                        -=0.000004/1 (TOPMED)
                        HGVS:

                        12.

                        rs1490698899 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          15:81365473 (GRCh38)
                          15:81657814 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:81365472:C:A,NC_000015.10:81365472:C:T
                          Gene:
                          TMC3 (Varview), TMC3-AS1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          A=0.000008/2 (TOPMED)
                          A=0.000029/4 (GnomAD)
                          HGVS:

                          13.

                          rs1490688175 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            15:81362215 (GRCh38)
                            15:81654556 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:81362214:C:A,NC_000015.10:81362214:C:T
                            Gene:
                            TMC3 (Varview), TMC3-AS1 (Varview)
                            Functional Consequence:
                            intron_variant
                            HGVS:

                            14.

                            rs1490530402 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              15:81333910 (GRCh38)
                              15:81626251 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:81333909:A:C
                              Gene:
                              TMC3 (Varview), TMC3-AS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:

                              15.

                              rs1490507775 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                15:81347720 (GRCh38)
                                15:81640061 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:81347719:T:G
                                Gene:
                                TMC3 (Varview), TMC3-AS1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:

                                16.

                                rs1490428317 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  15:81342426 (GRCh38)
                                  15:81634767 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:81342425:G:A
                                  Gene:
                                  TMC3 (Varview), TMC3-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1490405843 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->TTCTCAAG [Show Flanks]
                                    Chromosome:
                                    15:81358042 (GRCh38)
                                    15:81650384 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:81358042:TCAAG:TCAAGTTCTCAAG
                                    Gene:
                                    TMC3 (Varview), TMC3-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TCAAGTTCTCAAG=0./0 (ALFA)
                                    TCAAGTTC=0.000004/1 (TOPMED)
                                    TCAAGTTC=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490370881 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      T>- [Show Flanks]
                                      Chromosome:
                                      15:81373619 (GRCh38)
                                      15:81665960 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:81373618:TTTT:TTT
                                      Gene:
                                      TMC3 (Varview), TMC3-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      TTT=0./0 (ALFA)
                                      -=0.000011/3 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1490234319 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CACAGTGTAAACCTCTATT>- [Show Flanks]
                                        Chromosome:
                                        15:81375190 (GRCh38)
                                        15:81667531 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:81375187:TTCACAGTGTAAACCTCTATT:TT
                                        Gene:
                                        TMC3 (Varview), TMC3-AS1 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        TT=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1490219189 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          T>- [Show Flanks]
                                          Chromosome:
                                          15:81358184 (GRCh38)
                                          15:81650525 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:81358183:T:
                                          Gene:
                                          TMC3 (Varview), TMC3-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,frameshift_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          -=0.00004/1 (TOMMO)
                                          HGVS:

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