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Items: 1 to 20 of 4391

1.

rs1491533643 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AG>- [Show Flanks]
    Chromosome:
    1:37699250 (GRCh38)
    1:38164922 (GRCh37)
    Canonical SPDI:
    NC_000001.11:37699249:AG:
    Gene:
    CDCA8 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.000014/2 (GnomAD)
    -=0.000142/2 (TOMMO)
    HGVS:
    2.

    rs1491456609 has merged into rs1180500249 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      G>-,GG [Show Flanks]
      Chromosome:
      1:37699251 (GRCh38)
      1:38164923 (GRCh37)
      Canonical SPDI:
      NC_000001.11:37699250:GGGGGG:GGGGG,NC_000001.11:37699250:GGGGGG:GGGGGGG
      Gene:
      CDCA8 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GGGGGGG=0./0 (ALFA)
      -=0.00055/1 (Korea1K)
      HGVS:
      3.

      rs1491318266 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->GCTCTGAGG [Show Flanks]
        Chromosome:
        1:37704637 (GRCh38)
        1:38170310 (GRCh37)
        Canonical SPDI:
        NC_000001.11:37704637::GCTCTGAGG
        Gene:
        CDCA8 (Varview)
        Functional Consequence:
        intron_variant
        HGVS:
        4.

        rs1491173369 has merged into rs145718694 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          1:37704649 (GRCh38)
          1:38170321 (GRCh37)
          Canonical SPDI:
          NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37704636:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          CDCA8 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTT=0./0 (ALFA)
          HGVS:
          NC_000001.11:g.37704649_37704665del, NC_000001.11:g.37704650_37704665del, NC_000001.11:g.37704651_37704665del, NC_000001.11:g.37704652_37704665del, NC_000001.11:g.37704653_37704665del, NC_000001.11:g.37704654_37704665del, NC_000001.11:g.37704655_37704665del, NC_000001.11:g.37704656_37704665del, NC_000001.11:g.37704657_37704665del, NC_000001.11:g.37704658_37704665del, NC_000001.11:g.37704659_37704665del, NC_000001.11:g.37704660_37704665del, NC_000001.11:g.37704661_37704665del, NC_000001.11:g.37704662_37704665del, NC_000001.11:g.37704663_37704665del, NC_000001.11:g.37704664_37704665del, NC_000001.11:g.37704665del, NC_000001.11:g.37704665dup, NC_000001.11:g.37704664_37704665dup, NC_000001.11:g.37704663_37704665dup, NC_000001.11:g.37704662_37704665dup, NC_000001.11:g.37704661_37704665dup, NC_000001.11:g.37704660_37704665dup, NC_000001.11:g.37704659_37704665dup, NC_000001.11:g.37704665_37704666insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.38170321_38170337del, NC_000001.10:g.38170322_38170337del, NC_000001.10:g.38170323_38170337del, NC_000001.10:g.38170324_38170337del, NC_000001.10:g.38170325_38170337del, NC_000001.10:g.38170326_38170337del, NC_000001.10:g.38170327_38170337del, NC_000001.10:g.38170328_38170337del, NC_000001.10:g.38170329_38170337del, NC_000001.10:g.38170330_38170337del, NC_000001.10:g.38170331_38170337del, NC_000001.10:g.38170332_38170337del, NC_000001.10:g.38170333_38170337del, NC_000001.10:g.38170334_38170337del, NC_000001.10:g.38170335_38170337del, NC_000001.10:g.38170336_38170337del, NC_000001.10:g.38170337del, NC_000001.10:g.38170337dup, NC_000001.10:g.38170336_38170337dup, NC_000001.10:g.38170335_38170337dup, NC_000001.10:g.38170334_38170337dup, NC_000001.10:g.38170333_38170337dup, NC_000001.10:g.38170332_38170337dup, NC_000001.10:g.38170331_38170337dup, NC_000001.10:g.38170337_38170338insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          5.

          rs1491078767 has merged into rs34220599 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            1:37702048 (GRCh38)
            1:38167720 (GRCh37)
            Canonical SPDI:
            NC_000001.11:37702037:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:37702037:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:37702037:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:37702037:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:37702037:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:37702037:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:37702037:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:37702037:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37702037:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37702037:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37702037:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37702037:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            CDCA8 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTTT=0./0 (ALFA)
            -=0.000008/2 (TOPMED)
            T=0.4/16 (GENOME_DK)
            HGVS:
            NC_000001.11:g.37702048_37702057del, NC_000001.11:g.37702051_37702057del, NC_000001.11:g.37702053_37702057del, NC_000001.11:g.37702054_37702057del, NC_000001.11:g.37702055_37702057del, NC_000001.11:g.37702056_37702057del, NC_000001.11:g.37702057del, NC_000001.11:g.37702057dup, NC_000001.11:g.37702056_37702057dup, NC_000001.11:g.37702055_37702057dup, NC_000001.11:g.37702054_37702057dup, NC_000001.11:g.37702053_37702057dup, NC_000001.10:g.38167720_38167729del, NC_000001.10:g.38167723_38167729del, NC_000001.10:g.38167725_38167729del, NC_000001.10:g.38167726_38167729del, NC_000001.10:g.38167727_38167729del, NC_000001.10:g.38167728_38167729del, NC_000001.10:g.38167729del, NC_000001.10:g.38167729dup, NC_000001.10:g.38167728_38167729dup, NC_000001.10:g.38167727_38167729dup, NC_000001.10:g.38167726_38167729dup, NC_000001.10:g.38167725_38167729dup
            6.

            rs1491043059 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              TG>- [Show Flanks]
              Chromosome:
              1:37702057 (GRCh38)
              1:38167729 (GRCh37)
              Canonical SPDI:
              NC_000001.11:37702056:TG:
              Gene:
              CDCA8 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              HGVS:
              7.

              rs1490962777 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                1:37697919 (GRCh38)
                1:38163591 (GRCh37)
                Canonical SPDI:
                NC_000001.11:37697918:C:A
                Gene:
                CDCA8 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490840380 has merged into rs35363414 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
                  Chromosome:
                  1:37705824 (GRCh38)
                  1:38171496 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:37705810:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:37705810:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:37705810:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:37705810:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:37705810:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:37705810:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:37705810:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:37705810:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37705810:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37705810:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
                  Gene:
                  CDCA8 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTTTTTTT=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1490725945 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:37704867 (GRCh38)
                    1:38170539 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:37704866:C:T
                    Gene:
                    CDCA8 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.000015/4 (TOPMED)
                    T=0.000021/3 (GnomAD)
                    C=0.5/1 (SGDP_PRJ)
                    HGVS:
                    10.

                    rs1490646048 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:37700834 (GRCh38)
                      1:38166506 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:37700833:A:G
                      Gene:
                      CDCA8 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1490453150 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:37697298 (GRCh38)
                        1:38162970 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:37697297:C:T
                        Gene:
                        CDCA8 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        T=0.000035/1 (TOMMO)
                        HGVS:
                        12.

                        rs1490349020 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CAACTTG>- [Show Flanks]
                          Chromosome:
                          1:37705350 (GRCh38)
                          1:38171022 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:37705347:TGCAACTTG:TG
                          Gene:
                          CDCA8 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TG=0./0 (ALFA)
                          -=0.000007/1 (GnomAD)
                          -=0.000011/3 (TOPMED)
                          HGVS:
                          13.

                          rs1489855844 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            1:37704881 (GRCh38)
                            1:38170553 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:37704880:C:A,NC_000001.11:37704880:C:T
                            Gene:
                            CDCA8 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1489690383 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:37704023 (GRCh38)
                              1:38169695 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:37704022:G:A
                              Gene:
                              CDCA8 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000014/2 (GnomAD)
                              A=0.000042/11 (TOPMED)
                              A=0.000342/1 (KOREAN)
                              A=0.000425/7 (TOMMO)
                              HGVS:
                              15.

                              rs1489502470 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                1:37705817 (GRCh38)
                                1:38171489 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:37705816:T:G
                                Gene:
                                CDCA8 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000422/5 (ALFA)
                                G=0.00003/4 (GnomAD)
                                T=0.5/1 (SGDP_PRJ)
                                HGVS:
                                16.

                                rs1489471442 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,G,T [Show Flanks]
                                  Chromosome:
                                  1:37705622 (GRCh38)
                                  1:38171294 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:37705621:C:A,NC_000001.11:37705621:C:G,NC_000001.11:37705621:C:T
                                  Gene:
                                  CDCA8 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1489039887 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    1:37703618 (GRCh38)
                                    1:38169290 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:37703617:A:C
                                    Gene:
                                    CDCA8 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000142/2 (ALFA)
                                    C=0.000014/2 (GnomAD)
                                    C=0.000038/10 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1488910791 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      1:37695466 (GRCh38)
                                      1:38161138 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:37695465:G:A,NC_000001.11:37695465:G:T
                                      Gene:
                                      CDCA8 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      T=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1488781095 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        1:37692953 (GRCh38)
                                        1:38158625 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:37692952:A:G
                                        Gene:
                                        C1orf109 (Varview), CDCA8 (Varview)
                                        Functional Consequence:
                                        missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1488657909 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:37698710 (GRCh38)
                                          1:38164382 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:37698709:G:A
                                          Gene:
                                          CDCA8 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000011/3 (TOPMED)
                                          HGVS:

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