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Items: 1 to 20 of 1000

1.

rs1491588522 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->CCCATTTCAAAAAAA [Show Flanks]
    Chromosome:
    20:46510758 (GRCh38)
    20:45139398 (GRCh37)
    Canonical SPDI:
    NC_000020.11:46510758:AAAAAAA:AAAAAAACCCATTTCAAAAAAA
    Gene:
    ZNF334 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    AAAAAAACCCATTTCAAAAAAA=0./0 (ALFA)
    AAAAAAACCCATTTC=0.00007/2 (GnomAD)
    HGVS:
    2.

    rs1491588262 has merged into rs11476476 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      20:46489664 (GRCh38)
      20:45118303 (GRCh37)
      Canonical SPDI:
      NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      ZNF334 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAAAAA=0./0 (ALFA)
      HGVS:
      NC_000020.11:g.46489664_46489672del, NC_000020.11:g.46489665_46489672del, NC_000020.11:g.46489666_46489672del, NC_000020.11:g.46489667_46489672del, NC_000020.11:g.46489668_46489672del, NC_000020.11:g.46489669_46489672del, NC_000020.11:g.46489670_46489672del, NC_000020.11:g.46489671_46489672del, NC_000020.11:g.46489672del, NC_000020.11:g.46489672dup, NC_000020.11:g.46489671_46489672dup, NC_000020.11:g.46489670_46489672dup, NC_000020.11:g.46489668_46489672dup, NC_000020.11:g.46489667_46489672dup, NC_000020.11:g.46489659_46489672dup, NC_000020.11:g.46489672_46489673insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.45118303_45118311del, NC_000020.10:g.45118304_45118311del, NC_000020.10:g.45118305_45118311del, NC_000020.10:g.45118306_45118311del, NC_000020.10:g.45118307_45118311del, NC_000020.10:g.45118308_45118311del, NC_000020.10:g.45118309_45118311del, NC_000020.10:g.45118310_45118311del, NC_000020.10:g.45118311del, NC_000020.10:g.45118311dup, NC_000020.10:g.45118310_45118311dup, NC_000020.10:g.45118309_45118311dup, NC_000020.10:g.45118307_45118311dup, NC_000020.10:g.45118306_45118311dup, NC_000020.10:g.45118298_45118311dup, NC_000020.10:g.45118311_45118312insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      3.

      rs1491492123 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->CA [Show Flanks]
        Chromosome:
        20:46488420 (GRCh38)
        20:45117060 (GRCh37)
        Canonical SPDI:
        NC_000020.11:46488420:A:ACA
        Gene:
        ZNF334 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        ACA=0./0 (ALFA)
        AC=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1491403123 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          20:46489649 (GRCh38)
          20:45118288 (GRCh37)
          Canonical SPDI:
          NC_000020.11:46489648:CA:
          Gene:
          ZNF334 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          HGVS:
          5.

          rs1491377813 has merged into rs901917484 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AA>-,AAAA [Show Flanks]
            Chromosome:
            20:46488444 (GRCh38)
            20:45117083 (GRCh37)
            Canonical SPDI:
            NC_000020.11:46488442:AAA:A,NC_000020.11:46488442:AAA:AAAAA
            Gene:
            ZNF334 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAA=0./0 (ALFA)
            -=0.00004/1 (TOMMO)
            HGVS:
            6.

            rs1491168889 has merged into rs61489091 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              20:46499185 (GRCh38)
              20:45127824 (GRCh37)
              Canonical SPDI:
              NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              ZNF334 (Varview)
              Functional Consequence:
              downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAA=0./0 (ALFA)
              HGVS:
              NC_000020.11:g.46499185_46499201del, NC_000020.11:g.46499186_46499201del, NC_000020.11:g.46499187_46499201del, NC_000020.11:g.46499188_46499201del, NC_000020.11:g.46499189_46499201del, NC_000020.11:g.46499190_46499201del, NC_000020.11:g.46499191_46499201del, NC_000020.11:g.46499192_46499201del, NC_000020.11:g.46499193_46499201del, NC_000020.11:g.46499194_46499201del, NC_000020.11:g.46499195_46499201del, NC_000020.11:g.46499196_46499201del, NC_000020.11:g.46499197_46499201del, NC_000020.11:g.46499199_46499201del, NC_000020.11:g.46499200_46499201del, NC_000020.11:g.46499201del, NC_000020.11:g.46499201dup, NC_000020.11:g.46499200_46499201dup, NC_000020.11:g.46499199_46499201dup, NC_000020.11:g.46499198_46499201dup, NC_000020.11:g.46499197_46499201dup, NC_000020.11:g.46499194_46499201dup, NC_000020.10:g.45127824_45127840del, NC_000020.10:g.45127825_45127840del, NC_000020.10:g.45127826_45127840del, NC_000020.10:g.45127827_45127840del, NC_000020.10:g.45127828_45127840del, NC_000020.10:g.45127829_45127840del, NC_000020.10:g.45127830_45127840del, NC_000020.10:g.45127831_45127840del, NC_000020.10:g.45127832_45127840del, NC_000020.10:g.45127833_45127840del, NC_000020.10:g.45127834_45127840del, NC_000020.10:g.45127835_45127840del, NC_000020.10:g.45127836_45127840del, NC_000020.10:g.45127838_45127840del, NC_000020.10:g.45127839_45127840del, NC_000020.10:g.45127840del, NC_000020.10:g.45127840dup, NC_000020.10:g.45127839_45127840dup, NC_000020.10:g.45127838_45127840dup, NC_000020.10:g.45127837_45127840dup, NC_000020.10:g.45127836_45127840dup, NC_000020.10:g.45127833_45127840dup
              7.

              rs1491128060 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->C [Show Flanks]
                Chromosome:
                20:46499174 (GRCh38)
                20:45127814 (GRCh37)
                Canonical SPDI:
                NC_000020.11:46499174::C
                Gene:
                ZNF334 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                HGVS:
                8.

                rs1491080562 has merged into rs545678374 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
                  Chromosome:
                  20:46468455 (GRCh38)
                  20:45097094 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:46468441:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:46468441:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:46468441:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:46468441:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:46468441:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
                  Gene:
                  ZNF334 (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTTTTTTTTTT=0.00016/2 (ALFA)
                  HGVS:
                  9.

                  rs1490997347 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    20:46479374 (GRCh38)
                    20:45108013 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:46479373:C:G,NC_000020.11:46479373:C:T
                    Gene:
                    ZNF334 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    G=0.000019/5 (TOPMED)
                    HGVS:
                    10.

                    rs1490754800 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      20:46511872 (GRCh38)
                      20:45140511 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:46511871:G:A
                      Gene:
                      ZNF334 (Varview)
                      Functional Consequence:
                      5_prime_UTR_variant,intron_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490715194 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        20:46470088 (GRCh38)
                        20:45098727 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:46470087:A:G
                        Gene:
                        ZNF334 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000015/4 (TOPMED)
                        HGVS:
                        12.

                        rs1490676054 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          20:46473413 (GRCh38)
                          20:45102052 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:46473412:A:G
                          Gene:
                          ZNF334 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,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:
                          13.

                          rs1490646884 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            20:46475904 (GRCh38)
                            20:45104543 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:46475903:T:C
                            Gene:
                            ZNF334 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000015/4 (TOPMED)
                            C=0.000021/3 (GnomAD)
                            HGVS:
                            14.

                            rs1490461071 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              20:46477495 (GRCh38)
                              20:45106134 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:46477494:T:C
                              Gene:
                              ZNF334 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1490417007 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                20:46491737 (GRCh38)
                                20:45120376 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:46491736:T:G
                                Gene:
                                ZNF334 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1490316915 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  20:46473665 (GRCh38)
                                  20:45102304 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:46473664:T:C
                                  Gene:
                                  ZNF334 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490235916 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    20:46468694 (GRCh38)
                                    20:45097333 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:46468693:A:C
                                    Gene:
                                    ZNF334 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490230104 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      CTT>- [Show Flanks]
                                      Chromosome:
                                      20:46486855 (GRCh38)
                                      20:45115494 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:46486854:CTT:
                                      Gene:
                                      ZNF334 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      -=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      -=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490223013 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        20:46469536 (GRCh38)
                                        20:45098175 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:46469535:T:C
                                        Gene:
                                        ZNF334 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000013/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490199629 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          20:46485878 (GRCh38)
                                          20:45114517 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:46485877:C:A
                                          Gene:
                                          ZNF334 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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