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Items: 1 to 20 of 9900

1.

rs1491571122 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->G [Show Flanks]
    Chromosome:
    19:52730392 (GRCh38)
    19:53233646 (GRCh37)
    Canonical SPDI:
    NC_000019.10:52730392::G
    Gene:
    ZNF611 (Varview)
    Functional Consequence:
    upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0.00008/1 (ALFA)
    HGVS:
    2.

    rs1491547945 has merged into rs1159350274 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      19:52730405 (GRCh38)
      19:53233658 (GRCh37)
      Canonical SPDI:
      NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:52730391:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      ZNF611 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAAA=0./0 (ALFA)
      HGVS:
      NC_000019.10:g.52730405_52730424del, NC_000019.10:g.52730406_52730424del, NC_000019.10:g.52730407_52730424del, NC_000019.10:g.52730408_52730424del, NC_000019.10:g.52730409_52730424del, NC_000019.10:g.52730410_52730424del, NC_000019.10:g.52730411_52730424del, NC_000019.10:g.52730412_52730424del, NC_000019.10:g.52730413_52730424del, NC_000019.10:g.52730414_52730424del, NC_000019.10:g.52730415_52730424del, NC_000019.10:g.52730416_52730424del, NC_000019.10:g.52730417_52730424del, NC_000019.10:g.52730418_52730424del, NC_000019.10:g.52730419_52730424del, NC_000019.10:g.52730420_52730424del, NC_000019.10:g.52730421_52730424del, NC_000019.10:g.52730423_52730424del, NC_000019.10:g.52730424del, NC_000019.10:g.52730424dup, NC_000019.10:g.52730423_52730424dup, NC_000019.10:g.52730422_52730424dup, NC_000019.10:g.52730421_52730424dup, NC_000019.10:g.52730420_52730424dup, NC_000019.10:g.52730419_52730424dup, NC_000019.10:g.52730418_52730424dup, NC_000019.10:g.52730417_52730424dup, NC_000019.10:g.52730416_52730424dup, NC_000019.10:g.52730415_52730424dup, NC_000019.10:g.52730414_52730424dup, NC_000019.10:g.52730413_52730424dup, NC_000019.10:g.52730396_52730424dup, NC_000019.10:g.52730393_52730424dup, NC_000019.9:g.53233658_53233677del, NC_000019.9:g.53233659_53233677del, NC_000019.9:g.53233660_53233677del, NC_000019.9:g.53233661_53233677del, NC_000019.9:g.53233662_53233677del, NC_000019.9:g.53233663_53233677del, NC_000019.9:g.53233664_53233677del, NC_000019.9:g.53233665_53233677del, NC_000019.9:g.53233666_53233677del, NC_000019.9:g.53233667_53233677del, NC_000019.9:g.53233668_53233677del, NC_000019.9:g.53233669_53233677del, NC_000019.9:g.53233670_53233677del, NC_000019.9:g.53233671_53233677del, NC_000019.9:g.53233672_53233677del, NC_000019.9:g.53233673_53233677del, NC_000019.9:g.53233674_53233677del, NC_000019.9:g.53233676_53233677del, NC_000019.9:g.53233677del, NC_000019.9:g.53233677dup, NC_000019.9:g.53233676_53233677dup, NC_000019.9:g.53233675_53233677dup, NC_000019.9:g.53233674_53233677dup, NC_000019.9:g.53233673_53233677dup, NC_000019.9:g.53233672_53233677dup, NC_000019.9:g.53233671_53233677dup, NC_000019.9:g.53233670_53233677dup, NC_000019.9:g.53233669_53233677dup, NC_000019.9:g.53233668_53233677dup, NC_000019.9:g.53233667_53233677dup, NC_000019.9:g.53233666_53233677dup, NC_000019.9:g.53233649_53233677dup, NC_000019.9:g.53233646_53233677dup
      3.

      rs1491533722 has merged into rs55993682 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AA>-,A,AAA [Show Flanks]
        Chromosome:
        19:52711368 (GRCh38)
        19:53214621 (GRCh37)
        Canonical SPDI:
        NC_000019.10:52711358:AAAAAAAAAAA:AAAAAAAAA,NC_000019.10:52711358:AAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:52711358:AAAAAAAAAAA:AAAAAAAAAAAA
        Gene:
        ZNF611 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAAA=0.00059/6 (ALFA)
        -=0.38629/231 (NorthernSweden)
        -=0.39699/1530 (ALSPAC)
        -=0.39725/1473 (TWINSUK)
        -=0.4/16 (GENOME_DK)
        -=0.41583/415 (GoNL)
        -=0.42192/2113 (1000Genomes)
        -=0.43013/788 (Korea1K)
        HGVS:
        4.

        rs1491484271 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CT>- [Show Flanks]
          Chromosome:
          19:52736740 (GRCh38)
          19:53239993 (GRCh37)
          Canonical SPDI:
          NC_000019.10:52736738:TCT:T
          Gene:
          ZNF611 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          HGVS:
          5.

          rs1491413368 has merged into rs67203350 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
            Chromosome:
            19:52732793 (GRCh38)
            19:53236046 (GRCh37)
            Canonical SPDI:
            NC_000019.10:52732781:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:52732781:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:52732781:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:52732781:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:52732781:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:52732781:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
            Gene:
            ZNF611 (Varview), LOC124904760 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAAAAAAA=0./0 (ALFA)
            -=0.2317/133 (NorthernSweden)
            -=0.2552/1278 (1000Genomes)
            -=0.4/16 (GENOME_DK)
            HGVS:
            6.

            rs1491384169 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->A,T [Show Flanks]
              Chromosome:
              19:52734537 (GRCh38)
              19:53237791 (GRCh37)
              Canonical SPDI:
              NC_000019.10:52734537::A,NC_000019.10:52734537::T
              Gene:
              ZNF611 (Varview), LOC124904760 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              T=0.000221/1 (GnomAD)
              HGVS:
              7.

              rs1491373203 has merged into rs78884990 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
                Chromosome:
                19:52736931 (GRCh38)
                19:53240184 (GRCh37)
                Canonical SPDI:
                NC_000019.10:52736921:TTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:52736921:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:52736921:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:52736921:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:52736921:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:52736921:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
                Gene:
                ZNF611 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTTTTT=0./0 (ALFA)
                -=0.3598/1802 (1000Genomes)
                HGVS:
                8.

                rs1491311831 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->C [Show Flanks]
                  Chromosome:
                  19:52736739 (GRCh38)
                  19:53239993 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:52736739:C:CC
                  Gene:
                  ZNF611 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  CC=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000019/2 (GnomAD)
                  HGVS:
                  9.

                  rs1491269355 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->TA [Show Flanks]
                    Chromosome:
                    19:52736152 (GRCh38)
                    19:53239406 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:52736152::TA
                    Gene:
                    ZNF611 (Varview), LOC124904760 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    TA=0.000084/1 (ALFA)
                    TA=0.000072/9 (GnomAD)
                    HGVS:
                    10.

                    rs1491201086 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      GT>- [Show Flanks]
                      Chromosome:
                      19:52736921 (GRCh38)
                      19:53240174 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:52736920:GT:
                      Gene:
                      ZNF611 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0./0 (ALFA)
                      -=0.00009/8 (GnomAD)
                      -=0.0028/44 (TOMMO)
                      HGVS:
                      11.

                      rs1491127193 has merged into rs3029477 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GGGGGGGGGG>-,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
                        Chromosome:
                        19:52734539 (GRCh38)
                        19:53237792 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:52734536:GGGGGGGGGGGG:GG,NC_000019.10:52734536:GGGGGGGGGGGG:GGGGG,NC_000019.10:52734536:GGGGGGGGGGGG:GGGGGG,NC_000019.10:52734536:GGGGGGGGGGGG:GGGGGGG,NC_000019.10:52734536:GGGGGGGGGGGG:GGGGGGGG,NC_000019.10:52734536:GGGGGGGGGGGG:GGGGGGGGG,NC_000019.10:52734536:GGGGGGGGGGGG:GGGGGGGGGG,NC_000019.10:52734536:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000019.10:52734536:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000019.10:52734536:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000019.10:52734536:GGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000019.10:52734536:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000019.10:52734536:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG
                        Gene:
                        ZNF611 (Varview), LOC124904760 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        GG=0./0 (ALFA)
                        GGGGGGGGGG=0.0004/2 (1000Genomes)
                        HGVS:
                        NC_000019.10:g.52734539_52734548del, NC_000019.10:g.52734542_52734548del, NC_000019.10:g.52734543_52734548del, NC_000019.10:g.52734544_52734548del, NC_000019.10:g.52734545_52734548del, NC_000019.10:g.52734546_52734548del, NC_000019.10:g.52734547_52734548del, NC_000019.10:g.52734548del, NC_000019.10:g.52734548dup, NC_000019.10:g.52734547_52734548dup, NC_000019.10:g.52734546_52734548dup, NC_000019.10:g.52734543_52734548dup, NC_000019.10:g.52734548_52734549insGGGGGGGGGGGGG, NC_000019.9:g.53237792_53237801del, NC_000019.9:g.53237795_53237801del, NC_000019.9:g.53237796_53237801del, NC_000019.9:g.53237797_53237801del, NC_000019.9:g.53237798_53237801del, NC_000019.9:g.53237799_53237801del, NC_000019.9:g.53237800_53237801del, NC_000019.9:g.53237801del, NC_000019.9:g.53237801dup, NC_000019.9:g.53237800_53237801dup, NC_000019.9:g.53237799_53237801dup, NC_000019.9:g.53237796_53237801dup, NC_000019.9:g.53237801_53237802insGGGGGGGGGGGGG
                        12.

                        rs1491104745 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->GAC [Show Flanks]
                          Chromosome:
                          19:52711359 (GRCh38)
                          19:53214613 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:52711359::GAC
                          Gene:
                          ZNF611 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency
                          MAF:
                          GAC=0.00005/2 (GnomAD)
                          HGVS:
                          13.

                          rs1491084181 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->C [Show Flanks]
                            Chromosome:
                            19:52734547 (GRCh38)
                            19:53237801 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:52734547::C
                            Gene:
                            ZNF611 (Varview), LOC124904760 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1491072039 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              GT>- [Show Flanks]
                              Chromosome:
                              19:52733314 (GRCh38)
                              19:53236567 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:52733312:TGT:T
                              Gene:
                              ZNF611 (Varview), LOC124904760 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              -=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490973694 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,G,T [Show Flanks]
                                Chromosome:
                                19:52708296 (GRCh38)
                                19:53211549 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:52708295:C:A,NC_000019.10:52708295:C:G,NC_000019.10:52708295:C:T
                                Gene:
                                ZNF611 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1490953430 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  T>-,TT [Show Flanks]
                                  Chromosome:
                                  19:52709244 (GRCh38)
                                  19:53212497 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:52709243:TTTTTTT:TTTTTT,NC_000019.10:52709243:TTTTTTT:TTTTTTTT
                                  Gene:
                                  ZNF611 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTTT=0./0 (ALFA)
                                  -=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490934947 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    19:52720533 (GRCh38)
                                    19:53223786 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:52720532:G:A
                                    Gene:
                                    ZNF611 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000084/1 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000119/2 (TOMMO)
                                    G=0.5/1 (SGDP_PRJ)
                                    HGVS:
                                    18.

                                    rs1490920816 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      19:52719150 (GRCh38)
                                      19:53222403 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:52719149:C:G
                                      Gene:
                                      ZNF611 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490889047 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        19:52720970 (GRCh38)
                                        19:53224223 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:52720969:G:A,NC_000019.10:52720969:G:C
                                        Gene:
                                        ZNF611 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        A=0.000015/2 (GnomAD)
                                        A=0.000106/2 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1490875999 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          19:52731449 (GRCh38)
                                          19:53234702 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:52731448:C:T
                                          Gene:
                                          ZNF611 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

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