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Items: 1 to 20 of 1024

1.

rs1491351663 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    6:27837976 (GRCh38)
    6:27805754 (GRCh37)
    Canonical SPDI:
    NC_000006.12:27837975:CA:
    Gene:
    H2AC15 (Varview), H2BC15 (Varview)
    Functional Consequence:
    coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,frameshift_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.000043/1 (ALFA)
    -=0.000016/2 (ExAC)
    -=0.00004/10 (GnomAD_exomes)
    -=0.000053/14 (TOPMED)
    -=0.000093/13 (GnomAD)
    HGVS:
    2.

    rs1490876957 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      6:27838217 (GRCh38)
      6:27805995 (GRCh37)
      Canonical SPDI:
      NC_000006.12:27838216:A:G
      Gene:
      H2AC15 (Varview), H2BC15 (Varview)
      Functional Consequence:
      coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000015/4 (TOPMED)
      HGVS:
      3.

      rs1490838148 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GACA>- [Show Flanks]
        Chromosome:
        6:27839590 (GRCh38)
        6:27807368 (GRCh37)
        Canonical SPDI:
        NC_000006.12:27839587:CAGACA:CA
        Gene:
        H2AC15 (Varview), H2BC15 (Varview)
        Functional Consequence:
        downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        CA=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1490772884 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          6:27837677 (GRCh38)
          6:27805455 (GRCh37)
          Canonical SPDI:
          NC_000006.12:27837676:T:G
          Gene:
          H2AC15 (Varview), H2BC15 (Varview)
          Functional Consequence:
          downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1488536278 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            6:27837872 (GRCh38)
            6:27805650 (GRCh37)
            Canonical SPDI:
            NC_000006.12:27837871:T:C
            Gene:
            H2AC15 (Varview), H2BC15 (Varview)
            Functional Consequence:
            downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1487672881 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              6:27839253 (GRCh38)
              6:27807031 (GRCh37)
              Canonical SPDI:
              NC_000006.12:27839252:G:A,NC_000006.12:27839252:G:T
              Gene:
              H2AC15 (Varview), H2BC15 (Varview)
              Functional Consequence:
              downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1487500938 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                6:27836883 (GRCh38)
                6:27804661 (GRCh37)
                Canonical SPDI:
                NC_000006.12:27836882:G:A
                Gene:
                H2BC15 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_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)
                HGVS:
                8.

                rs1487396662 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  6:27837466 (GRCh38)
                  6:27805244 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:27837465:A:C
                  Gene:
                  H2AC15 (Varview), H2BC15 (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000029/4 (GnomAD)
                  C=0.00003/8 (TOPMED)
                  HGVS:
                  9.

                  rs1487367058 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    6:27839323 (GRCh38)
                    6:27807101 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:27839322:G:A,NC_000006.12:27839322:G:C
                    Gene:
                    H2AC15 (Varview), H2BC15 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1483937411 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      6:27838077 (GRCh38)
                      6:27805855 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:27838076:A:T
                      Gene:
                      H2AC15 (Varview), H2BC15 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000031/1 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1483734853 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        6:27837968 (GRCh38)
                        6:27805746 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:27837967:G:A
                        Gene:
                        H2AC15 (Varview), H2BC15 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1483635511 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->AG [Show Flanks]
                          Chromosome:
                          6:27837207 (GRCh38)
                          6:27804986 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:27837207:AG:AGAG
                          Gene:
                          H2BC15 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          AGAG=0./0 (ALFA)
                          AG=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1482727076 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ATCT>- [Show Flanks]
                            Chromosome:
                            6:27837342 (GRCh38)
                            6:27805120 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:27837338:TCTATCT:TCT
                            Gene:
                            H2BC15 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TCT=0./0 (ALFA)
                            -=0.000004/1 (TOPMED)
                            -=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1482366023 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              6:27837239 (GRCh38)
                              6:27805017 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:27837238:G:T
                              Gene:
                              H2BC15 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1482199170 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                6:27838259 (GRCh38)
                                6:27806037 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:27838258:T:A
                                Gene:
                                H2AC15 (Varview), H2BC15 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
                                HGVS:
                                16.

                                rs1481379236 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  6:27838290 (GRCh38)
                                  6:27806068 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:27838289:G:A
                                  Gene:
                                  H2AC15 (Varview), H2BC15 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1480400571 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    6:27837953 (GRCh38)
                                    6:27805731 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:27837952:G:A
                                    Gene:
                                    H2AC15 (Varview), H2BC15 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1478856248 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      6:27836951 (GRCh38)
                                      6:27804729 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:27836950:A:C
                                      Gene:
                                      H2BC15 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000071/1 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1478661822 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        G>- [Show Flanks]
                                        Chromosome:
                                        6:27838469 (GRCh38)
                                        6:27806247 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:27838468:GGG:GG
                                        Gene:
                                        H2AC15 (Varview), H2BC15 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        GG=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        -=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1477872512 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          6:27837710 (GRCh38)
                                          6:27805488 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:27837709:G:A,NC_000006.12:27837709:G:T
                                          Gene:
                                          H2AC15 (Varview), H2BC15 (Varview)
                                          Functional Consequence:
                                          500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000106/2 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000446/2 (Estonian)
                                          HGVS:

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