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1.

rs1491520114 has merged into rs398001053 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTT>-,T,TTT,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    6:27372870 (GRCh38)
    6:27340649 (GRCh37)
    Canonical SPDI:
    NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    ZNF204P (Varview), ZNF391 (Varview)
    Functional Consequence:
    upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTT=0./0 (ALFA)
    T=0.375/3 (KOREAN)
    HGVS:
    NC_000006.12:g.27372870_27372879del, NC_000006.12:g.27372871_27372879del, NC_000006.12:g.27372873_27372879del, NC_000006.12:g.27372874_27372879del, NC_000006.12:g.27372877_27372879del, NC_000006.12:g.27372878_27372879del, NC_000006.12:g.27372879del, NC_000006.12:g.27372879dup, NC_000006.12:g.27372878_27372879dup, NC_000006.12:g.27372877_27372879dup, NC_000006.12:g.27372876_27372879dup, NC_000006.12:g.27372870_27372879dup, NC_000006.11:g.27340649_27340658del, NC_000006.11:g.27340650_27340658del, NC_000006.11:g.27340652_27340658del, NC_000006.11:g.27340653_27340658del, NC_000006.11:g.27340656_27340658del, NC_000006.11:g.27340657_27340658del, NC_000006.11:g.27340658del, NC_000006.11:g.27340658dup, NC_000006.11:g.27340657_27340658dup, NC_000006.11:g.27340656_27340658dup, NC_000006.11:g.27340655_27340658dup, NC_000006.11:g.27340649_27340658dup
    2.

    rs1490748812 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      6:27363298 (GRCh38)
      6:27331077 (GRCh37)
      Canonical SPDI:
      NC_000006.12:27363297:G:C
      Gene:
      ZNF204P (Varview)
      Functional Consequence:
      non_coding_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:
      3.

      rs1490260452 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        6:27364780 (GRCh38)
        6:27332559 (GRCh37)
        Canonical SPDI:
        NC_000006.12:27364779:A:T
        Gene:
        ZNF204P (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:
        4.

        rs1490123135 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          6:27371766 (GRCh38)
          6:27339545 (GRCh37)
          Canonical SPDI:
          NC_000006.12:27371765:T:C
          Gene:
          ZNF204P (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000011/3 (TOPMED)
          C=0.000142/2 (TOMMO)
          HGVS:
          5.

          rs1489705217 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            ->AGAAGCCATTGCTTTCCCCTTGTCCAGACA
            Chromosome:
            no mapping
            Canonical SPDI:
            6.

            rs1489346515 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              6:27361727 (GRCh38)
              6:27329506 (GRCh37)
              Canonical SPDI:
              NC_000006.12:27361726:C:T
              Gene:
              ZNF204P (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1489178818 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                6:27375698 (GRCh38)
                6:27343477 (GRCh37)
                Canonical SPDI:
                NC_000006.12:27375697:C:T
                Gene:
                ZNF204P (Varview), ZNF391 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1489106913 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  C>- [Show Flanks]
                  Chromosome:
                  6:27359840 (GRCh38)
                  6:27327619 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:27359839:CC:C
                  Gene:
                  ZNF204P (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  CC=0.000084/1 (ALFA)
                  -=0.000011/3 (TOPMED)
                  -=0.000156/1 (1000Genomes)
                  HGVS:
                  9.

                  rs1488974499 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTCAACA>- [Show Flanks]
                    Chromosome:
                    6:27361315 (GRCh38)
                    6:27329094 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:27361310:AACATTCAACA:AACA
                    Gene:
                    ZNF204P (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    AACA=0./0 (ALFA)
                    -=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs1488954852 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      6:27374149 (GRCh38)
                      6:27341928 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:27374148:C:T
                      Gene:
                      ZNF204P (Varview), ZNF391 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1488830868 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        6:27374490 (GRCh38)
                        6:27342269 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:27374489:C:G,NC_000006.12:27374489:C:T
                        Gene:
                        ZNF204P (Varview), ZNF391 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1488720823 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          6:27359305 (GRCh38)
                          6:27327084 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:27359304:C:A,NC_000006.12:27359304:C:T
                          Gene:
                          ZNF204P (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          T=0.000007/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1488427475 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            6:27372954 (GRCh38)
                            6:27340733 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:27372953:G:C
                            Gene:
                            ZNF204P (Varview), ZNF391 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.000071/1 (ALFA)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1488392729 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              6:27375675 (GRCh38)
                              6:27343454 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:27375674:G:A,NC_000006.12:27375674:G:C
                              Gene:
                              ZNF204P (Varview), ZNF391 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000684/2 (KOREAN)
                              HGVS:
                              15.

                              rs1488107405 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                6:27375133 (GRCh38)
                                6:27342912 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:27375132:A:G
                                Gene:
                                ZNF204P (Varview), ZNF391 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,5_prime_UTR_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.

                                rs1487470067 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  6:27376782 (GRCh38)
                                  6:27344561 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:27376781:G:A
                                  Gene:
                                  ZNF204P (Varview), ZNF391 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1487459752 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    6:27362023 (GRCh38)
                                    6:27329802 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:27362022:A:G
                                    Gene:
                                    ZNF204P (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:
                                    18.

                                    rs1487455721 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      6:27364297 (GRCh38)
                                      6:27332076 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:27364296:T:C
                                      Gene:
                                      ZNF204P (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0.000071/1 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1487197429 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        A>- [Show Flanks]
                                        Chromosome:
                                        6:27374016 (GRCh38)
                                        6:27341795 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:27374015:AAAA:AAA
                                        Gene:
                                        ZNF204P (Varview), ZNF391 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        AAA=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1487175446 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          6:27365177 (GRCh38)
                                          6:27332956 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:27365176:A:G
                                          Gene:
                                          ZNF204P (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:

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