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Items: 1 to 20 of 4999

1.

rs1491352719 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    1:178482093 (GRCh38)
    1:178451228 (GRCh37)
    Canonical SPDI:
    NC_000001.11:178482091:ACA:A
    Gene:
    CLEC20A (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    HGVS:
    2.

    rs1490969106 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      1:178492021 (GRCh38)
      1:178461156 (GRCh37)
      Canonical SPDI:
      NC_000001.11:178492020:T:A
      Gene:
      CLEC20A (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000011/3 (TOPMED)
      A=0.000021/3 (GnomAD)
      HGVS:
      3.

      rs1490499259 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        1:178499271 (GRCh38)
        1:178468406 (GRCh37)
        Canonical SPDI:
        NC_000001.11:178499270:T:C
        Gene:
        CLEC20A (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490468909 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GACATCTGTCTT>- [Show Flanks]
          Chromosome:
          1:178485438 (GRCh38)
          1:178454573 (GRCh37)
          Canonical SPDI:
          NC_000001.11:178485435:TTGACATCTGTCTT:TT
          Gene:
          CLEC20A (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TT=0.000071/1 (ALFA)
          -=0.000011/3 (TOPMED)
          -=0.000021/3 (GnomAD)
          HGVS:
          5.

          rs1490145325 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            1:178486375 (GRCh38)
            1:178455510 (GRCh37)
            Canonical SPDI:
            NC_000001.11:178486374:C:A
            Gene:
            CLEC20A (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490137564 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              1:178500956 (GRCh38)
              1:178470091 (GRCh37)
              Canonical SPDI:
              NC_000001.11:178500955:A:C
              Gene:
              CLEC20A (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1489220643 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                1:178496345 (GRCh38)
                1:178465480 (GRCh37)
                Canonical SPDI:
                NC_000001.11:178496344:A:G
                Gene:
                CLEC20A (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1489124209 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  1:178491292 (GRCh38)
                  1:178460427 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:178491291:C:A
                  Gene:
                  CLEC20A (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000071/1 (ALFA)
                  A=0.000014/2 (GnomAD)
                  A=0.000015/4 (TOPMED)
                  HGVS:
                  9.

                  rs1489061669 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:178483321 (GRCh38)
                    1:178452456 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:178483320:A:G
                    Gene:
                    CLEC20A (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1488998676 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:178482292 (GRCh38)
                      1:178451427 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:178482291:A:G
                      Gene:
                      CLEC20A (Varview)
                      Functional Consequence:
                      intron_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:
                      11.

                      rs1488938303 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        1:178501069 (GRCh38)
                        1:178470204 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:178501068:A:G
                        Gene:
                        CLEC20A (Varview), LOC101928866 (Varview)
                        Functional Consequence:
                        500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1488780562 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:178486394 (GRCh38)
                          1:178455529 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:178486393:T:C
                          Gene:
                          CLEC20A (Varview)
                          Functional Consequence:
                          intron_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:
                          13.

                          rs1488516674 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:178497225 (GRCh38)
                            1:178466360 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:178497224:C:T
                            Gene:
                            CLEC20A (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000008/2 (TOPMED)
                            T=0.000495/8 (TOMMO)
                            T=0.001092/2 (Korea1K)
                            T=0.001711/5 (KOREAN)
                            HGVS:
                            14.

                            rs1488126238 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              1:178492655 (GRCh38)
                              1:178461790 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:178492654:C:G
                              Gene:
                              CLEC20A (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000342/1 (KOREAN)
                              G=0.000546/1 (Korea1K)
                              HGVS:
                              15.

                              rs1488119596 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:178483659 (GRCh38)
                                1:178452794 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:178483658:A:G
                                Gene:
                                CLEC20A (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                HGVS:
                                16.

                                rs1488084143 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GAT>- [Show Flanks]
                                  Chromosome:
                                  1:178488126 (GRCh38)
                                  1:178457261 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:178488121:TGATGAT:TGAT
                                  Gene:
                                  CLEC20A (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  TGAT=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1488022884 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    1:178485714 (GRCh38)
                                    1:178454849 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:178485713:C:G
                                    Gene:
                                    CLEC20A (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000071/1 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1488013978 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      1:178491786 (GRCh38)
                                      1:178460921 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:178491785:T:C
                                      Gene:
                                      CLEC20A (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.

                                      rs1487963630 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:178485301 (GRCh38)
                                        1:178454436 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:178485300:G:A
                                        Gene:
                                        CLEC20A (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1487901288 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:178491881 (GRCh38)
                                          1:178461016 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:178491880:C:T
                                          Gene:
                                          CLEC20A (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:

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