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Items: 1 to 20 of 1000

1.

rs1491505327 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->G [Show Flanks]
    Chromosome:
    3:13504353 (GRCh38)
    3:13545854 (GRCh37)
    Canonical SPDI:
    NC_000003.12:13504353:GGG:GGGG
    Gene:
    HDAC11 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GGGG=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1491477471 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TG>- [Show Flanks]
      Chromosome:
      3:13486595 (GRCh38)
      3:13528095 (GRCh37)
      Canonical SPDI:
      NC_000003.12:13486594:TG:
      Gene:
      HDAC11 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000028/3 (GnomAD)
      HGVS:
      3.

      rs1491394408 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->T,TT,TTT [Show Flanks]
        Chromosome:
        3:13486569 (GRCh38)
        3:13528070 (GRCh37)
        Canonical SPDI:
        NC_000003.12:13486569:T:TT,NC_000003.12:13486569:T:TTT,NC_000003.12:13486569:T:TTTT
        Gene:
        HDAC11 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TT=0./0 (ALFA)
        HGVS:
        4.

        rs1491322247 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->TGGAGAA [Show Flanks]
          Chromosome:
          3:13486595 (GRCh38)
          3:13528096 (GRCh37)
          Canonical SPDI:
          NC_000003.12:13486595::TGGAGAA
          Gene:
          HDAC11 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          TGGAGAA=0./0 (ALFA)
          HGVS:
          5.

          rs1491317553 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CT>- [Show Flanks]
            Chromosome:
            3:13478897 (GRCh38)
            3:13520397 (GRCh37)
            Canonical SPDI:
            NC_000003.12:13478896:CT:
            Gene:
            HDAC11 (Varview), HDAC11-AS1 (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0.000071/1 (ALFA)
            -=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1491301894 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AG>- [Show Flanks]
              Chromosome:
              3:13504353 (GRCh38)
              3:13545853 (GRCh37)
              Canonical SPDI:
              NC_000003.12:13504352:AG:
              Gene:
              HDAC11 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              -=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1491292520 has merged into rs767002835 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                3:13486581 (GRCh38)
                3:13528081 (GRCh37)
                Canonical SPDI:
                NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:13486571:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                HDAC11 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTT=0./0 (ALFA)
                -=0.000026/7 (TOPMED)
                -=0.3/12 (GENOME_DK)
                HGVS:
                NC_000003.12:g.13486581_13486595del, NC_000003.12:g.13486582_13486595del, NC_000003.12:g.13486583_13486595del, NC_000003.12:g.13486584_13486595del, NC_000003.12:g.13486585_13486595del, NC_000003.12:g.13486586_13486595del, NC_000003.12:g.13486587_13486595del, NC_000003.12:g.13486588_13486595del, NC_000003.12:g.13486589_13486595del, NC_000003.12:g.13486590_13486595del, NC_000003.12:g.13486591_13486595del, NC_000003.12:g.13486592_13486595del, NC_000003.12:g.13486593_13486595del, NC_000003.12:g.13486594_13486595del, NC_000003.12:g.13486595del, NC_000003.12:g.13486595dup, NC_000003.12:g.13486594_13486595dup, NC_000003.12:g.13486593_13486595dup, NC_000003.12:g.13486592_13486595dup, NC_000003.12:g.13486591_13486595dup, NC_000003.12:g.13486590_13486595dup, NC_000003.12:g.13486589_13486595dup, NC_000003.12:g.13486588_13486595dup, NC_000003.12:g.13486587_13486595dup, NC_000003.12:g.13486584_13486595dup, NC_000003.12:g.13486583_13486595dup, NC_000003.12:g.13486582_13486595dup, NC_000003.12:g.13486581_13486595dup, NC_000003.12:g.13486580_13486595dup, NC_000003.12:g.13486579_13486595dup, NC_000003.12:g.13486576_13486595dup, NC_000003.12:g.13486575_13486595dup, NC_000003.12:g.13486574_13486595dup, NC_000003.12:g.13486595_13486596insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.13486595_13486596insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.13528081_13528095del, NC_000003.11:g.13528082_13528095del, NC_000003.11:g.13528083_13528095del, NC_000003.11:g.13528084_13528095del, NC_000003.11:g.13528085_13528095del, NC_000003.11:g.13528086_13528095del, NC_000003.11:g.13528087_13528095del, NC_000003.11:g.13528088_13528095del, NC_000003.11:g.13528089_13528095del, NC_000003.11:g.13528090_13528095del, NC_000003.11:g.13528091_13528095del, NC_000003.11:g.13528092_13528095del, NC_000003.11:g.13528093_13528095del, NC_000003.11:g.13528094_13528095del, NC_000003.11:g.13528095del, NC_000003.11:g.13528095dup, NC_000003.11:g.13528094_13528095dup, NC_000003.11:g.13528093_13528095dup, NC_000003.11:g.13528092_13528095dup, NC_000003.11:g.13528091_13528095dup, NC_000003.11:g.13528090_13528095dup, NC_000003.11:g.13528089_13528095dup, NC_000003.11:g.13528088_13528095dup, NC_000003.11:g.13528087_13528095dup, NC_000003.11:g.13528084_13528095dup, NC_000003.11:g.13528083_13528095dup, NC_000003.11:g.13528082_13528095dup, NC_000003.11:g.13528081_13528095dup, NC_000003.11:g.13528080_13528095dup, NC_000003.11:g.13528079_13528095dup, NC_000003.11:g.13528076_13528095dup, NC_000003.11:g.13528075_13528095dup, NC_000003.11:g.13528074_13528095dup, NC_000003.11:g.13528095_13528096insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.13528095_13528096insTTTTTTTTTTTTTTTTTTTTTTTTTTT
                8.

                rs1491221520 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  GC>- [Show Flanks]
                  Chromosome:
                  3:13497853 (GRCh38)
                  3:13539353 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:13497852:GC:
                  Gene:
                  HDAC11 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000144/4 (TOMMO)
                  HGVS:
                  9.

                  rs1491210722 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GT>-,GTGT [Show Flanks]
                    Chromosome:
                    3:13486571 (GRCh38)
                    3:13528071 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:13486568:GTGT:GT,NC_000003.12:13486568:GTGT:GTGTGT
                    Gene:
                    HDAC11 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    GTGT=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1491194840 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      CA>- [Show Flanks]
                      Chromosome:
                      3:13486267 (GRCh38)
                      3:13527767 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:13486266:CA:
                      Gene:
                      HDAC11 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1491180921 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->GT [Show Flanks]
                        Chromosome:
                        3:13486572 (GRCh38)
                        3:13528073 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:13486572:T:TGT
                        Gene:
                        HDAC11 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TGT=0./0 (ALFA)
                        TG=0.00014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1490832238 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          3:13495250 (GRCh38)
                          3:13536750 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:13495249:C:T
                          Gene:
                          HDAC11 (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)
                          HGVS:
                          13.

                          rs1490820016 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            3:13488413 (GRCh38)
                            3:13529913 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:13488412:C:A
                            Gene:
                            HDAC11 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000066/1 (ALFA)
                            A=0.000029/4 (GnomAD)
                            A=0.000156/1 (1000Genomes)
                            A=0.000223/1 (Estonian)
                            HGVS:
                            14.

                            rs1490706595 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              3:13480453 (GRCh38)
                              3:13521953 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:13480452:G:T
                              Gene:
                              HDAC11 (Varview), HDAC11-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1490505451 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                3:13486823 (GRCh38)
                                3:13528323 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:13486822:T:C
                                Gene:
                                HDAC11 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000011/3 (TOPMED)
                                C=0.000342/1 (KOREAN)
                                HGVS:
                                16.

                                rs1490260032 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  3:13504325 (GRCh38)
                                  3:13545825 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:13504324:C:T
                                  Gene:
                                  HDAC11 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490190932 has merged into rs965572305 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    GAAAGAAA>-,GAAA,GAAAGAAAGAAA [Show Flanks]
                                    Chromosome:
                                    3:13503573 (GRCh38)
                                    3:13545073 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:13503564:GAAAGAAAGAAAGAAA:GAAAGAAA,NC_000003.12:13503564:GAAAGAAAGAAAGAAA:GAAAGAAAGAAA,NC_000003.12:13503564:GAAAGAAAGAAAGAAA:GAAAGAAAGAAAGAAAGAAA
                                    Gene:
                                    HDAC11 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GAAAGAAAGAAA=0./0 (ALFA)
                                    -=0.000042/11 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490011350 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      3:13495687 (GRCh38)
                                      3:13537187 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:13495686:G:A
                                      Gene:
                                      HDAC11 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000071/1 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489885924 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        3:13480880 (GRCh38)
                                        3:13522380 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:13480879:A:G
                                        Gene:
                                        HDAC11 (Varview), HDAC11-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000034/9 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1489799653 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          3:13490152 (GRCh38)
                                          3:13531652 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:13490151:C:T
                                          Gene:
                                          HDAC11 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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