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Items: 1 to 20 of 28983

1.

rs1491582756 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    3:111118248 (GRCh38)
    3:110837095 (GRCh37)
    Canonical SPDI:
    NC_000003.12:111118247:CT:
    Gene:
    NECTIN3 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491559190 has merged into rs375316132 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TGTGTGTGTG>-,TGTGTG,TGTGTGTG,TGTGTGTGTGTG [Show Flanks]
      Chromosome:
      3:111111888 (GRCh38)
      3:110830735 (GRCh37)
      Canonical SPDI:
      NC_000003.12:111111883:TGTGTGTGTGTGTG:TGTG,NC_000003.12:111111883:TGTGTGTGTGTGTG:TGTGTGTGTG,NC_000003.12:111111883:TGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000003.12:111111883:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG
      Gene:
      NECTIN3 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TGTG=0./0 (ALFA)
      -=0.000008/2 (TOPMED)
      -=0.01/6 (NorthernSweden)
      -=0.025/1 (GENOME_DK)
      HGVS:
      3.

      rs1491532722 has merged into rs201028492 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AT>-,ATAT [Show Flanks]
        Chromosome:
        3:111089431 (GRCh38)
        3:110808278 (GRCh37)
        Canonical SPDI:
        NC_000003.12:111089429:TAT:T,NC_000003.12:111089429:TAT:TATAT
        Gene:
        NECTIN3 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TATAT=0.00805/149 (ALFA)
        -=0.00078/3 (ALSPAC)
        -=0.00351/13 (TWINSUK)
        TA=0.025/1 (GENOME_DK)
        TA=0.05833/35 (NorthernSweden)
        TA=0.36463/668 (Korea1K)
        TA=0.39528/6624 (TOMMO)
        HGVS:
        4.

        rs1491488070 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AT>- [Show Flanks]
          Chromosome:
          3:111149459 (GRCh38)
          3:110868306 (GRCh37)
          Canonical SPDI:
          NC_000003.12:111149458:AT:
          Gene:
          NECTIN3 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          -=0.000029/3 (GnomAD)
          HGVS:
          5.

          rs1491475922 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CT>- [Show Flanks]
            Chromosome:
            3:111169079 (GRCh38)
            3:110887926 (GRCh37)
            Canonical SPDI:
            NC_000003.12:111169078:CT:
            Gene:
            NECTIN3 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            HGVS:
            6.

            rs1491469157 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->ATGT,ATGTGTGT [Show Flanks]
              Chromosome:
              3:111149459 (GRCh38)
              3:110868307 (GRCh37)
              Canonical SPDI:
              NC_000003.12:111149459:T:TATGT,NC_000003.12:111149459:T:TATGTGTGT
              Gene:
              NECTIN3 (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              TATGTGTGT=0./0 (ALFA)
              TATGTGTG=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1491456803 has merged into rs869201432 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                3:111125031 (GRCh38)
                3:110843878 (GRCh37)
                Canonical SPDI:
                NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:111125022:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                NECTIN3 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTT=0./0 (ALFA)
                HGVS:
                NC_000003.12:g.111125031_111125046del, NC_000003.12:g.111125032_111125046del, NC_000003.12:g.111125033_111125046del, NC_000003.12:g.111125034_111125046del, NC_000003.12:g.111125035_111125046del, NC_000003.12:g.111125036_111125046del, NC_000003.12:g.111125037_111125046del, NC_000003.12:g.111125038_111125046del, NC_000003.12:g.111125039_111125046del, NC_000003.12:g.111125040_111125046del, NC_000003.12:g.111125041_111125046del, NC_000003.12:g.111125042_111125046del, NC_000003.12:g.111125043_111125046del, NC_000003.12:g.111125044_111125046del, NC_000003.12:g.111125045_111125046del, NC_000003.12:g.111125046del, NC_000003.12:g.111125046dup, NC_000003.12:g.111125045_111125046dup, NC_000003.12:g.111125044_111125046dup, NC_000003.12:g.111125043_111125046dup, NC_000003.12:g.111125042_111125046dup, NC_000003.12:g.111125041_111125046dup, NC_000003.12:g.111125040_111125046dup, NC_000003.12:g.111125039_111125046dup, NC_000003.12:g.111125038_111125046dup, NC_000003.12:g.111125037_111125046dup, NC_000003.12:g.111125036_111125046dup, NC_000003.12:g.111125035_111125046dup, NC_000003.12:g.111125034_111125046dup, NC_000003.12:g.111125033_111125046dup, NC_000003.12:g.111125032_111125046dup, NC_000003.12:g.111125031_111125046dup, NC_000003.12:g.111125027_111125046dup, NC_000003.12:g.111125026_111125046dup, NC_000003.12:g.111125025_111125046dup, NC_000003.12:g.111125024_111125046dup, NC_000003.12:g.111125046_111125047insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.111125046_111125047insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.110843878_110843893del, NC_000003.11:g.110843879_110843893del, NC_000003.11:g.110843880_110843893del, NC_000003.11:g.110843881_110843893del, NC_000003.11:g.110843882_110843893del, NC_000003.11:g.110843883_110843893del, NC_000003.11:g.110843884_110843893del, NC_000003.11:g.110843885_110843893del, NC_000003.11:g.110843886_110843893del, NC_000003.11:g.110843887_110843893del, NC_000003.11:g.110843888_110843893del, NC_000003.11:g.110843889_110843893del, NC_000003.11:g.110843890_110843893del, NC_000003.11:g.110843891_110843893del, NC_000003.11:g.110843892_110843893del, NC_000003.11:g.110843893del, NC_000003.11:g.110843893dup, NC_000003.11:g.110843892_110843893dup, NC_000003.11:g.110843891_110843893dup, NC_000003.11:g.110843890_110843893dup, NC_000003.11:g.110843889_110843893dup, NC_000003.11:g.110843888_110843893dup, NC_000003.11:g.110843887_110843893dup, NC_000003.11:g.110843886_110843893dup, NC_000003.11:g.110843885_110843893dup, NC_000003.11:g.110843884_110843893dup, NC_000003.11:g.110843883_110843893dup, NC_000003.11:g.110843882_110843893dup, NC_000003.11:g.110843881_110843893dup, NC_000003.11:g.110843880_110843893dup, NC_000003.11:g.110843879_110843893dup, NC_000003.11:g.110843878_110843893dup, NC_000003.11:g.110843874_110843893dup, NC_000003.11:g.110843873_110843893dup, NC_000003.11:g.110843872_110843893dup, NC_000003.11:g.110843871_110843893dup, NC_000003.11:g.110843893_110843894insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.110843893_110843894insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029835.1:g.58273_58288del, NG_029835.1:g.58274_58288del, NG_029835.1:g.58275_58288del, NG_029835.1:g.58276_58288del, NG_029835.1:g.58277_58288del, NG_029835.1:g.58278_58288del, NG_029835.1:g.58279_58288del, NG_029835.1:g.58280_58288del, NG_029835.1:g.58281_58288del, NG_029835.1:g.58282_58288del, NG_029835.1:g.58283_58288del, NG_029835.1:g.58284_58288del, NG_029835.1:g.58285_58288del, NG_029835.1:g.58286_58288del, NG_029835.1:g.58287_58288del, NG_029835.1:g.58288del, NG_029835.1:g.58288dup, NG_029835.1:g.58287_58288dup, NG_029835.1:g.58286_58288dup, NG_029835.1:g.58285_58288dup, NG_029835.1:g.58284_58288dup, NG_029835.1:g.58283_58288dup, NG_029835.1:g.58282_58288dup, NG_029835.1:g.58281_58288dup, NG_029835.1:g.58280_58288dup, NG_029835.1:g.58279_58288dup, NG_029835.1:g.58278_58288dup, NG_029835.1:g.58277_58288dup, NG_029835.1:g.58276_58288dup, NG_029835.1:g.58275_58288dup, NG_029835.1:g.58274_58288dup, NG_029835.1:g.58273_58288dup, NG_029835.1:g.58269_58288dup, NG_029835.1:g.58268_58288dup, NG_029835.1:g.58267_58288dup, NG_029835.1:g.58266_58288dup, NG_029835.1:g.58288_58289insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029835.1:g.58288_58289insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                8.

                rs1491404552 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  AT>- [Show Flanks]
                  Chromosome:
                  3:111111883 (GRCh38)
                  3:110830730 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:111111882:AT:
                  Gene:
                  NECTIN3 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000008/1 (GnomAD)
                  HGVS:
                  9.

                  rs1491360522 [Homo sapiens]
                    Variant type:
                    SNV:
                    Alleles:
                    ->G
                    Chromosome:
                    no mapping
                    Canonical SPDI:
                    10.

                    rs1491349818 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->ATATATATATATTT,ATATATATTT,ATATATTT,ATATTT,ATTT [Show Flanks]
                      Chromosome:
                      3:111118282 (GRCh38)
                      3:110837130 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:111118282:T:TATATATATATATTT,NC_000003.12:111118282:T:TATATATATTT,NC_000003.12:111118282:T:TATATATTT,NC_000003.12:111118282:T:TATATTT,NC_000003.12:111118282:T:TATTT
                      Gene:
                      NECTIN3 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TATATATATTT=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1491337224 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        AG>- [Show Flanks]
                        Chromosome:
                        3:111195338 (GRCh38)
                        3:110914185 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:111195337:AG:
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        -=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1491286057 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          TT>- [Show Flanks]
                          Chromosome:
                          3:111118283 (GRCh38)
                          3:110837130 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:111118282:TT:
                          Gene:
                          NECTIN3 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0.000506/6 (ALFA)
                          -=0.000932/113 (GnomAD)
                          HGVS:
                          13.

                          rs1491131252 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            TG>- [Show Flanks]
                            Chromosome:
                            3:111125046 (GRCh38)
                            3:110843893 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:111125045:TG:
                            Gene:
                            NECTIN3 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            -=0.010454/124 (ALFA)
                            -=0.000479/55 (GnomAD)
                            -=0.00373/62 (TOMMO)
                            HGVS:
                            14.

                            rs1491112832 [Homo sapiens]
                              Variant type:
                              SNV:
                              Alleles:
                              ->TTA
                              Chromosome:
                              no mapping
                              Canonical SPDI:
                              15.

                              rs1491108551 has merged into rs63305862 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TT>-,T,TTT,TTTT [Show Flanks]
                                Chromosome:
                                3:111105159 (GRCh38)
                                3:110824006 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:111105150:TTTTTTTTTT:TTTTTTTT,NC_000003.12:111105150:TTTTTTTTTT:TTTTTTTTT,NC_000003.12:111105150:TTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:111105150:TTTTTTTTTT:TTTTTTTTTTTT
                                Gene:
                                NECTIN3 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TTTTTTTTTTT=0./0 (ALFA)
                                T=0.05987/222 (TWINSUK)
                                T=0.06175/238 (ALSPAC)
                                T=0.075/3 (GENOME_DK)
                                T=0.075/45 (NorthernSweden)
                                T=0.10431/1748 (TOMMO)
                                T=0.22404/1120 (1000Genomes)
                                HGVS:
                                16.

                                rs1491093370 has merged into rs1166931300 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  G>-,GG [Show Flanks]
                                  Chromosome:
                                  3:111195339 (GRCh38)
                                  3:110914186 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:111195338:GGGGG:GGGG,NC_000003.12:111195338:GGGGG:GGGGGG
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GGGGGG=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1491014600 has merged into rs530786189 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
                                    Chromosome:
                                    3:111146444 (GRCh38)
                                    3:110865291 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:111146433:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:111146433:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:111146433:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:111146433:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:111146433:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:111146433:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:111146433:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:111146433:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:111146433:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
                                    Gene:
                                    NECTIN3 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AAAAAAAAAAAAA=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    A=0.026786/6 (1000Genomes)
                                    -=0.2/8 (GENOME_DK)
                                    HGVS:
                                    NC_000003.12:g.111146444_111146452del, NC_000003.12:g.111146447_111146452del, NC_000003.12:g.111146448_111146452del, NC_000003.12:g.111146450_111146452del, NC_000003.12:g.111146451_111146452del, NC_000003.12:g.111146452del, NC_000003.12:g.111146452dup, NC_000003.12:g.111146451_111146452dup, NC_000003.12:g.111146449_111146452dup, NC_000003.11:g.110865291_110865299del, NC_000003.11:g.110865294_110865299del, NC_000003.11:g.110865295_110865299del, NC_000003.11:g.110865297_110865299del, NC_000003.11:g.110865298_110865299del, NC_000003.11:g.110865299del, NC_000003.11:g.110865299dup, NC_000003.11:g.110865298_110865299dup, NC_000003.11:g.110865296_110865299dup, NG_029835.1:g.79686_79694del, NG_029835.1:g.79689_79694del, NG_029835.1:g.79690_79694del, NG_029835.1:g.79692_79694del, NG_029835.1:g.79693_79694del, NG_029835.1:g.79694del, NG_029835.1:g.79694dup, NG_029835.1:g.79693_79694dup, NG_029835.1:g.79691_79694dup
                                    18.

                                    rs1490986478 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A,C [Show Flanks]
                                      Chromosome:
                                      3:111081603 (GRCh38)
                                      3:110800450 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:111081602:T:A,NC_000003.12:111081602:T:C
                                      Gene:
                                      NECTIN3 (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:
                                      19.

                                      rs1490979347 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GAA>- [Show Flanks]
                                        Chromosome:
                                        3:111068574 (GRCh38)
                                        3:110787421 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:111068568:AAGAAGAA:AAGAA
                                        Gene:
                                        LOC151760 (Varview), NECTIN3-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AAGAA=0./0 (ALFA)
                                        -=0.000011/3 (TOPMED)
                                        -=0.000021/3 (GnomAD)
                                        HGVS:

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