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Items: 1 to 20 of 9851

1.

rs1491546365 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    2:64310190 (GRCh38)
    2:64537324 (GRCh37)
    Canonical SPDI:
    NC_000002.12:64310189:CA:
    Validated:
    by frequency,by alfa
    MAF:
    -=0.00177/21 (ALFA)
    HGVS:
    2.

    rs1491048527 has merged into rs10567583 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      2:64310201 (GRCh38)
      2:64537335 (GRCh37)
      Canonical SPDI:
      NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:64310190:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAA=0./0 (ALFA)
      HGVS:
      NC_000002.12:g.64310201_64310213del, NC_000002.12:g.64310202_64310213del, NC_000002.12:g.64310203_64310213del, NC_000002.12:g.64310204_64310213del, NC_000002.12:g.64310205_64310213del, NC_000002.12:g.64310206_64310213del, NC_000002.12:g.64310207_64310213del, NC_000002.12:g.64310208_64310213del, NC_000002.12:g.64310209_64310213del, NC_000002.12:g.64310210_64310213del, NC_000002.12:g.64310211_64310213del, NC_000002.12:g.64310212_64310213del, NC_000002.12:g.64310213del, NC_000002.12:g.64310213dup, NC_000002.12:g.64310212_64310213dup, NC_000002.12:g.64310211_64310213dup, NC_000002.12:g.64310210_64310213dup, NC_000002.12:g.64310209_64310213dup, NC_000002.12:g.64310206_64310213dup, NC_000002.12:g.64310204_64310213dup, NC_000002.12:g.64310196_64310213dup, NC_000002.12:g.64310213_64310214insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.64537335_64537347del, NC_000002.11:g.64537336_64537347del, NC_000002.11:g.64537337_64537347del, NC_000002.11:g.64537338_64537347del, NC_000002.11:g.64537339_64537347del, NC_000002.11:g.64537340_64537347del, NC_000002.11:g.64537341_64537347del, NC_000002.11:g.64537342_64537347del, NC_000002.11:g.64537343_64537347del, NC_000002.11:g.64537344_64537347del, NC_000002.11:g.64537345_64537347del, NC_000002.11:g.64537346_64537347del, NC_000002.11:g.64537347del, NC_000002.11:g.64537347dup, NC_000002.11:g.64537346_64537347dup, NC_000002.11:g.64537345_64537347dup, NC_000002.11:g.64537344_64537347dup, NC_000002.11:g.64537343_64537347dup, NC_000002.11:g.64537340_64537347dup, NC_000002.11:g.64537338_64537347dup, NC_000002.11:g.64537330_64537347dup, NC_000002.11:g.64537347_64537348insAAAAAAAAAAAAAAAAAAAAAAAAA
      3.

      rs1491021418 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        GT>-
        Chromosome:
        no mapping
        Canonical SPDI:
        4.

        rs1491008389 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->G [Show Flanks]
          Chromosome:
          2:64310192 (GRCh38)
          2:64537327 (GRCh37)
          Canonical SPDI:
          NC_000002.12:64310192::G
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          HGVS:
          5.

          rs1491000661 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            2:64310185 (GRCh38)
            2:64537319 (GRCh37)
            Canonical SPDI:
            NC_000002.12:64310184:T:A
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.00005/5 (GnomAD)
            HGVS:
            6.

            rs1490929061 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              2:64308271 (GRCh38)
              2:64535405 (GRCh37)
              Canonical SPDI:
              NC_000002.12:64308270:G:A
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490870438 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                2:64345740 (GRCh38)
                2:64572874 (GRCh37)
                Canonical SPDI:
                NC_000002.12:64345739:G:A
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000054/1 (ALFA)
                A=0.000021/3 (GnomAD)
                A=0.000034/9 (TOPMED)
                A=0.000223/1 (Estonian)
                HGVS:
                8.

                rs1490838803 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  2:64305126 (GRCh38)
                  2:64532260 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:64305125:C:A
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1490754118 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    2:64320983 (GRCh38)
                    2:64548117 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:64320982:C:T
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490718803 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      2:64326605 (GRCh38)
                      2:64553739 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:64326604:C:T
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1490685561 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        2:64336573 (GRCh38)
                        2:64563707 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:64336572:C:A
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490508955 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          2:64311208 (GRCh38)
                          2:64538342 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:64311207:A:G
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000021/3 (GnomAD)
                          HGVS:
                          13.

                          rs1490480140 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            2:64329070 (GRCh38)
                            2:64556204 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:64329069:G:A
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490400144 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              2:64344921 (GRCh38)
                              2:64572055 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:64344920:A:G
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490225144 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                2:64312191 (GRCh38)
                                2:64539325 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:64312190:C:T
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1490159112 has merged into rs35028606 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
                                  Chromosome:
                                  2:64313076 (GRCh38)
                                  2:64540210 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:64313065:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:64313065:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:64313065:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:64313065:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:64313065:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:64313065:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:64313065:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:64313065:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTTTTTTTT=0./0 (ALFA)
                                  -=0.45/18 (GENOME_DK)
                                  -=0.4788/2398 (1000Genomes)
                                  HGVS:
                                  17.

                                  rs1490151798 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    2:64328112 (GRCh38)
                                    2:64555246 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:64328111:G:A
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000011/3 (TOPMED)
                                    G=0.5/1 (SGDP_PRJ)
                                    HGVS:
                                    18.

                                    rs1490113441 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      2:64306964 (GRCh38)
                                      2:64534098 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:64306963:A:G
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000019/5 (TOPMED)
                                      G=0.000029/4 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490072858 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,C [Show Flanks]
                                        Chromosome:
                                        2:64343953 (GRCh38)
                                        2:64571087 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:64343952:T:A,NC_000002.12:64343952:T:C
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490047094 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          2:64345061 (GRCh38)
                                          2:64572195 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:64345060:A:G
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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