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Items: 1 to 20 of 19262

1.

rs1491573954 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GT>- [Show Flanks]
    Chromosome:
    3:93979246 (GRCh38)
    3:93698090 (GRCh37)
    Canonical SPDI:
    NC_000003.12:93979244:TGT:T
    Gene:
    ARL13B (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    HGVS:

    2.

    rs1491561297 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      GG>- [Show Flanks]
      Chromosome:
      3:93980761 (GRCh38)
      3:93699605 (GRCh37)
      Canonical SPDI:
      NC_000003.12:93980760:GG:
      Gene:
      ARL13B (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.000084/1 (ALFA)
      -=0.000043/6 (GnomAD)
      HGVS:

      3.

      rs1491541178 has merged into rs869211830 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
        Chromosome:
        3:94029360 (GRCh38)
        3:93748204 (GRCh37)
        Canonical SPDI:
        NC_000003.12:94029349:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:94029349:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:94029349:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:94029349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:94029349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:94029349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:94029349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:94029349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:94029349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
        Gene:
        ARL13B (Varview), STX19 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTT=0./0 (ALFA)
        -=0.02399/13 (NorthernSweden)
        HGVS:
        NC_000003.12:g.94029360_94029364del, NC_000003.12:g.94029361_94029364del, NC_000003.12:g.94029362_94029364del, NC_000003.12:g.94029363_94029364del, NC_000003.12:g.94029364del, NC_000003.12:g.94029364dup, NC_000003.12:g.94029363_94029364dup, NC_000003.12:g.94029362_94029364dup, NC_000003.12:g.94029361_94029364dup, NC_000003.11:g.93748204_93748208del, NC_000003.11:g.93748205_93748208del, NC_000003.11:g.93748206_93748208del, NC_000003.11:g.93748207_93748208del, NC_000003.11:g.93748208del, NC_000003.11:g.93748208dup, NC_000003.11:g.93748207_93748208dup, NC_000003.11:g.93748206_93748208dup, NC_000003.11:g.93748205_93748208dup, NG_017076.1:g.54222_54226del, NG_017076.1:g.54223_54226del, NG_017076.1:g.54224_54226del, NG_017076.1:g.54225_54226del, NG_017076.1:g.54226del, NG_017076.1:g.54226dup, NG_017076.1:g.54225_54226dup, NG_017076.1:g.54224_54226dup, NG_017076.1:g.54223_54226dup

        4.

        rs1491450357 has merged into rs869211830 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
          Chromosome:
          3:94029360 (GRCh38)
          3:93748204 (GRCh37)
          Canonical SPDI:
          NC_000003.12:94029349:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:94029349:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:94029349:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:94029349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:94029349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:94029349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:94029349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:94029349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:94029349:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
          Gene:
          ARL13B (Varview), STX19 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTT=0./0 (ALFA)
          -=0.02399/13 (NorthernSweden)
          HGVS:
          NC_000003.12:g.94029360_94029364del, NC_000003.12:g.94029361_94029364del, NC_000003.12:g.94029362_94029364del, NC_000003.12:g.94029363_94029364del, NC_000003.12:g.94029364del, NC_000003.12:g.94029364dup, NC_000003.12:g.94029363_94029364dup, NC_000003.12:g.94029362_94029364dup, NC_000003.12:g.94029361_94029364dup, NC_000003.11:g.93748204_93748208del, NC_000003.11:g.93748205_93748208del, NC_000003.11:g.93748206_93748208del, NC_000003.11:g.93748207_93748208del, NC_000003.11:g.93748208del, NC_000003.11:g.93748208dup, NC_000003.11:g.93748207_93748208dup, NC_000003.11:g.93748206_93748208dup, NC_000003.11:g.93748205_93748208dup, NG_017076.1:g.54222_54226del, NG_017076.1:g.54223_54226del, NG_017076.1:g.54224_54226del, NG_017076.1:g.54225_54226del, NG_017076.1:g.54226del, NG_017076.1:g.54226dup, NG_017076.1:g.54225_54226dup, NG_017076.1:g.54224_54226dup, NG_017076.1:g.54223_54226dup

          5.

          rs1491442182 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            3:94029301 (GRCh38)
            3:93748145 (GRCh37)
            Canonical SPDI:
            NC_000003.12:94029300:CA:
            Gene:
            ARL13B (Varview), STX19 (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            HGVS:

            6.

            rs1491424410 has merged into rs369419536 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAA>-,A,AAA,AAAA,AAAAAA,AAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              3:94045974 (GRCh38)
              3:93764818 (GRCh37)
              Canonical SPDI:
              NC_000003.12:94045968:AAAAAAAAAA:AAAAA,NC_000003.12:94045968:AAAAAAAAAA:AAAAAA,NC_000003.12:94045968:AAAAAAAAAA:AAAAAAAA,NC_000003.12:94045968:AAAAAAAAAA:AAAAAAAAA,NC_000003.12:94045968:AAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:94045968:AAAAAAAAAA:AAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              ARL13B (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAA=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              -=0.146259/86 (NorthernSweden)
              -=0.147456/2470 (TOMMO)
              HGVS:

              7.

              rs1491369500 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->CCC,CCCCC,CCCCCTCCCCCTCCC [Show Flanks]
                Chromosome:
                3:94043580 (GRCh38)
                3:93762425 (GRCh37)
                Canonical SPDI:
                NC_000003.12:94043580::CCC,NC_000003.12:94043580::CCCCC,NC_000003.12:94043580::CCCCCTCCCCCTCCC
                Gene:
                ARL13B (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by cluster
                HGVS:

                8.

                rs1491292588 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  TT>- [Show Flanks]
                  Chromosome:
                  3:94043580 (GRCh38)
                  3:93762424 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:94043579:TT:
                  Gene:
                  ARL13B (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0./0 (ALFA)
                  -=0.00981/52 (TOMMO)
                  HGVS:

                  9.

                  rs1491271498 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    TA>- [Show Flanks]
                    Chromosome:
                    3:94055157 (GRCh38)
                    3:93774001 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:94055156:TA:
                    Gene:
                    ARL13B (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000003.12:g.94055157_94055158del, NC_000003.11:g.93774001_93774002del, NG_017076.1:g.80019_80020del, NM_144996.4:c.*1894_*1895del, NM_144996.3:c.*1894_*1895del, NM_182896.3:c.*1738_*1739del, NM_182896.2:c.*1738_*1739del, NM_001321328.2:c.*1894_*1895del, NM_001321328.1:c.*1894_*1895del, NM_001174150.2:c.*1894_*1895del, NM_001174150.1:c.*1894_*1895del, NM_001174151.2:c.*1894_*1895del, NM_001174151.1:c.*1894_*1895del, NR_033427.2:n.3205_3206del, NR_033427.1:n.3221_3222del, NR_135621.2:n.3196_3197del, NR_135621.1:n.3212_3213del, XM_006713532.4:c.*1894_*1895del, XM_006713532.3:c.*1894_*1895del, XM_006713532.2:c.*1894_*1895del, XM_006713532.1:c.*1894_*1895del, XM_011512533.3:c.*1894_*1895del, XM_011512533.2:c.*1894_*1895del, XM_011512533.1:c.*1894_*1895del, XM_011512532.3:c.*1894_*1895del, XM_011512532.2:c.*1894_*1895del, XM_011512532.1:c.*1894_*1895del, XM_011512535.3:c.*1894_*1895del, XM_011512535.2:c.*1894_*1895del, XM_011512535.1:c.*1894_*1895del, XM_017005853.2:c.*1894_*1895del, XM_017005853.1:c.*1894_*1895del, XM_047447660.1:c.*1894_*1895del, NM_001410782.1:c.*1894_*1895del, XM_047447661.1:c.*1894_*1895del

                    10.

                    rs1491224232 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->AT,ATTTAT [Show Flanks]
                      Chromosome:
                      3:94029350 (GRCh38)
                      3:93748195 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:94029350:T:TAT,NC_000003.12:94029350:T:TATTTAT
                      Gene:
                      ARL13B (Varview), STX19 (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TATTTAT=0./0 (ALFA)
                      TATTTA=0.000004/1 (TOPMED)
                      TA=0.000067/6 (GnomAD)
                      TA=0.000213/4 (TOMMO)
                      HGVS:

                      11.

                      rs1491218375 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->G [Show Flanks]
                        Chromosome:
                        3:93979245 (GRCh38)
                        3:93698090 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:93979245:G:GG
                        Gene:
                        ARL13B (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        GG=0./0 (ALFA)
                        G=0.000024/3 (GnomAD)
                        HGVS:

                        12.

                        rs1491123023 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->A [Show Flanks]
                          Chromosome:
                          3:94055157 (GRCh38)
                          3:93774002 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:94055157:AAAAAA:AAAAAAA
                          Gene:
                          ARL13B (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAAAAAA=0./0 (ALFA)
                          A=0.000036/5 (GnomAD)
                          A=0.000038/10 (TOPMED)
                          HGVS:
                          NC_000003.12:g.94055163dup, NC_000003.11:g.93774007dup, NG_017076.1:g.80025dup, NM_144996.4:c.*1900dup, NM_144996.3:c.*1900dup, NM_182896.3:c.*1744dup, NM_182896.2:c.*1744dup, NM_001321328.2:c.*1900dup, NM_001321328.1:c.*1900dup, NM_001174150.2:c.*1900dup, NM_001174150.1:c.*1900dup, NM_001174151.2:c.*1900dup, NM_001174151.1:c.*1900dup, NR_033427.2:n.3211dup, NR_033427.1:n.3227dup, NR_135621.2:n.3202dup, NR_135621.1:n.3218dup, XM_006713532.4:c.*1900dup, XM_006713532.3:c.*1900dup, XM_006713532.2:c.*1900dup, XM_006713532.1:c.*1900dup, XM_011512533.3:c.*1900dup, XM_011512533.2:c.*1900dup, XM_011512533.1:c.*1900dup, XM_011512532.3:c.*1900dup, XM_011512532.2:c.*1900dup, XM_011512532.1:c.*1900dup, XM_011512535.3:c.*1900dup, XM_011512535.2:c.*1900dup, XM_011512535.1:c.*1900dup, XM_017005853.2:c.*1900dup, XM_017005853.1:c.*1900dup, XM_047447660.1:c.*1900dup, NM_001410782.1:c.*1900dup, XM_047447661.1:c.*1900dup

                          13.

                          rs1491109610 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->T [Show Flanks]
                            Chromosome:
                            3:93980761 (GRCh38)
                            3:93699606 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:93980761::T
                            Gene:
                            ARL13B (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            T=0.000137/19 (GnomAD)
                            T=0.001345/23 (TOMMO)
                            T=0.003821/7 (Korea1K)
                            HGVS:

                            14.

                            rs1491095362 has merged into rs1242349606 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
                              Chromosome:
                              3:94029314 (GRCh38)
                              3:93748158 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:94029301:ATATATATATATATATATATATATATATATATAT:ATATATATATAT,NC_000003.12:94029301:ATATATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000003.12:94029301:ATATATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000003.12:94029301:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000003.12:94029301:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000003.12:94029301:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000003.12:94029301:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000003.12:94029301:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000003.12:94029301:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000003.12:94029301:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000003.12:94029301:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000003.12:94029301:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000003.12:94029301:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000003.12:94029301:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:94029301:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:94029301:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:94029301:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:94029301:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:94029301:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:94029301:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:94029301:ATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT
                              Gene:
                              ARL13B (Varview), STX19 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              ATATATATATAT=0./0 (ALFA)
                              HGVS:
                              NC_000003.12:g.94029302AT[6], NC_000003.12:g.94029302AT[7], NC_000003.12:g.94029302AT[8], NC_000003.12:g.94029302AT[9], NC_000003.12:g.94029302AT[10], NC_000003.12:g.94029302AT[11], NC_000003.12:g.94029302AT[12], NC_000003.12:g.94029302AT[13], NC_000003.12:g.94029302AT[14], NC_000003.12:g.94029302AT[15], NC_000003.12:g.94029302AT[16], NC_000003.12:g.94029302AT[18], NC_000003.12:g.94029302AT[19], NC_000003.12:g.94029302AT[20], NC_000003.12:g.94029302AT[21], NC_000003.12:g.94029302AT[22], NC_000003.12:g.94029302AT[23], NC_000003.12:g.94029302AT[24], NC_000003.12:g.94029302AT[25], NC_000003.12:g.94029302AT[26], NC_000003.12:g.94029302AT[27], NC_000003.11:g.93748146AT[6], NC_000003.11:g.93748146AT[7], NC_000003.11:g.93748146AT[8], NC_000003.11:g.93748146AT[9], NC_000003.11:g.93748146AT[10], NC_000003.11:g.93748146AT[11], NC_000003.11:g.93748146AT[12], NC_000003.11:g.93748146AT[13], NC_000003.11:g.93748146AT[14], NC_000003.11:g.93748146AT[15], NC_000003.11:g.93748146AT[16], NC_000003.11:g.93748146AT[18], NC_000003.11:g.93748146AT[19], NC_000003.11:g.93748146AT[20], NC_000003.11:g.93748146AT[21], NC_000003.11:g.93748146AT[22], NC_000003.11:g.93748146AT[23], NC_000003.11:g.93748146AT[24], NC_000003.11:g.93748146AT[25], NC_000003.11:g.93748146AT[26], NC_000003.11:g.93748146AT[27], NG_017076.1:g.54164AT[6], NG_017076.1:g.54164AT[7], NG_017076.1:g.54164AT[8], NG_017076.1:g.54164AT[9], NG_017076.1:g.54164AT[10], NG_017076.1:g.54164AT[11], NG_017076.1:g.54164AT[12], NG_017076.1:g.54164AT[13], NG_017076.1:g.54164AT[14], NG_017076.1:g.54164AT[15], NG_017076.1:g.54164AT[16], NG_017076.1:g.54164AT[18], NG_017076.1:g.54164AT[19], NG_017076.1:g.54164AT[20], NG_017076.1:g.54164AT[21], NG_017076.1:g.54164AT[22], NG_017076.1:g.54164AT[23], NG_017076.1:g.54164AT[24], NG_017076.1:g.54164AT[25], NG_017076.1:g.54164AT[26], NG_017076.1:g.54164AT[27]

                              15.

                              rs1491003633 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                3:94052348 (GRCh38)
                                3:93771192 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:94052347:G:A
                                Gene:
                                ARL13B (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000008/2 (TOPMED)
                                HGVS:

                                16.

                                rs1490950541 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  3:94039078 (GRCh38)
                                  3:93757922 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:94039077:A:G
                                  Gene:
                                  ARL13B (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490949322 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    3:93985136 (GRCh38)
                                    3:93703980 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:93985135:T:G
                                    Gene:
                                    ARL13B (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000008/2 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1490937036 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      3:94051136 (GRCh38)
                                      3:93769980 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:94051135:G:A
                                      Gene:
                                      ARL13B (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1490897689 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        3:94016440 (GRCh38)
                                        3:93735284 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:94016439:T:C
                                        Gene:
                                        ARL13B (Varview), STX19 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1490892059 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TAT>- [Show Flanks]
                                          Chromosome:
                                          3:94038987 (GRCh38)
                                          3:93757831 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:94038982:TTATTAT:TTAT
                                          Gene:
                                          ARL13B (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TTAT=0.000054/1 (ALFA)
                                          -=0.000042/11 (TOPMED)
                                          -=0.00005/7 (GnomAD)
                                          -=0.000223/1 (Estonian)
                                          HGVS:

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