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Items: 1 to 20 of 770

1.

rs1491062551 has merged into rs34151345 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TT>-,T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
    Chromosome:
    1:111908966 (GRCh38)
    1:112451588 (GRCh37)
    Canonical SPDI:
    NC_000001.11:111908951:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:111908951:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:111908951:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:111908951:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:111908951:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:111908951:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
    Gene:
    KCND3 (Varview), KCND3-AS1 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
    T=0.4046/2026 (1000Genomes)
    HGVS:
    2.

    rs1488841246 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      1:111908115 (GRCh38)
      1:112450737 (GRCh37)
      Canonical SPDI:
      NC_000001.11:111908114:T:G
      Gene:
      KCND3 (Varview), KCND3-AS1 (Varview)
      Functional Consequence:
      intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1488219998 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        1:111907902 (GRCh38)
        1:112450524 (GRCh37)
        Canonical SPDI:
        NC_000001.11:111907901:T:C
        Gene:
        KCND3 (Varview), KCND3-AS1 (Varview)
        Functional Consequence:
        intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1488161360 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:111909096 (GRCh38)
          1:112451718 (GRCh37)
          Canonical SPDI:
          NC_000001.11:111909095:C:T
          Gene:
          KCND3 (Varview), KCND3-AS1 (Varview)
          Functional Consequence:
          intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000094/1 (ALFA)
          T=0.000038/10 (TOPMED)
          T=0.000043/6 (GnomAD)
          HGVS:
          5.

          rs1487796484 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            1:111908942 (GRCh38)
            1:112451564 (GRCh37)
            Canonical SPDI:
            NC_000001.11:111908941:G:A,NC_000001.11:111908941:G:T
            Gene:
            KCND3 (Varview), KCND3-AS1 (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1487569407 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              1:111908301 (GRCh38)
              1:112450923 (GRCh37)
              Canonical SPDI:
              NC_000001.11:111908300:A:G
              Gene:
              KCND3 (Varview), KCND3-AS1 (Varview)
              Functional Consequence:
              intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1487364982 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:111910256 (GRCh38)
                1:112452878 (GRCh37)
                Canonical SPDI:
                NC_000001.11:111910255:C:T
                Gene:
                KCND3 (Varview), KCND3-AS1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000015/4 (TOPMED)
                T=0.000021/3 (GnomAD)
                HGVS:
                8.

                rs1485870327 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G,T [Show Flanks]
                  Chromosome:
                  1:111910185 (GRCh38)
                  1:112452807 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:111910184:A:G,NC_000001.11:111910184:A:T
                  Gene:
                  KCND3 (Varview), KCND3-AS1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1485502494 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    1:111910323 (GRCh38)
                    1:112452945 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:111910321:ACA:A
                    Gene:
                    KCND3 (Varview), KCND3-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1483391179 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:111911171 (GRCh38)
                      1:112453793 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:111911170:A:G
                      Gene:
                      KCND3 (Varview), KCND3-AS1 (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,intron_variant,500B_downstream_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000019/5 (TOPMED)
                      G=0.000029/4 (GnomAD)
                      HGVS:
                      11.

                      rs1482823380 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        1:111909898 (GRCh38)
                        1:112452520 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:111909897:G:C
                        Gene:
                        KCND3 (Varview), KCND3-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000008/2 (TOPMED)
                        C=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1482523105 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:111911154 (GRCh38)
                          1:112453776 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:111911153:C:T
                          Gene:
                          KCND3 (Varview), KCND3-AS1 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,intron_variant,500B_downstream_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1479655329 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:111909696 (GRCh38)
                            1:112452318 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:111909695:G:A
                            Gene:
                            KCND3 (Varview), KCND3-AS1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1479213034 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              1:111910271 (GRCh38)
                              1:112452893 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:111910270:T:C
                              Gene:
                              KCND3 (Varview), KCND3-AS1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1478503008 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                1:111908661 (GRCh38)
                                1:112451283 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:111908660:G:C
                                Gene:
                                KCND3 (Varview), KCND3-AS1 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1477216873 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  1:111909011 (GRCh38)
                                  1:112451633 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:111909010:A:C
                                  Gene:
                                  KCND3 (Varview), KCND3-AS1 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1477154021 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    1:111908455 (GRCh38)
                                    1:112451077 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:111908454:C:G
                                    Gene:
                                    KCND3 (Varview), KCND3-AS1 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000021/3 (GnomAD)
                                    G=0.000026/7 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1476871763 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:111910025 (GRCh38)
                                      1:112452647 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:111910024:G:A
                                      Gene:
                                      KCND3 (Varview), KCND3-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000071/1 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000014/2 (GnomAD)
                                      G=0.5/1 (SGDP_PRJ)
                                      HGVS:
                                      19.

                                      rs1476441213 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        1:111908469 (GRCh38)
                                        1:112451091 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:111908468:G:T
                                        Gene:
                                        KCND3 (Varview), KCND3-AS1 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1474922167 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->GAGG [Show Flanks]
                                          Chromosome:
                                          1:111910421 (GRCh38)
                                          1:112453044 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:111910421:GGGAGG:GGGAGGGAGG
                                          Gene:
                                          KCND3 (Varview), KCND3-AS1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          GGGAGGGAGG=0./0 (ALFA)
                                          GGGA=0.000011/3 (TOPMED)
                                          HGVS:

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