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1.

rs1491557816 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->G [Show Flanks]
    Chromosome:
    17:43032062 (GRCh38)
    17:41184080 (GRCh37)
    Canonical SPDI:
    NC_000017.11:43032062::G
    Gene:
    RND2 (Varview)
    Functional Consequence:
    downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency
    MAF:
    G=0.00011/5 (GnomAD)
    HGVS:
    2.

    rs1491489331 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      ->CG
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1491342447 has merged into rs67446108 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        17:43032072 (GRCh38)
        17:41184089 (GRCh37)
        Canonical SPDI:
        NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43032061:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        RND2 (Varview)
        Functional Consequence:
        500B_downstream_variant,downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTT=0./0 (ALFA)
        HGVS:
        NC_000017.11:g.43032072_43032089del, NC_000017.11:g.43032075_43032089del, NC_000017.11:g.43032076_43032089del, NC_000017.11:g.43032077_43032089del, NC_000017.11:g.43032078_43032089del, NC_000017.11:g.43032079_43032089del, NC_000017.11:g.43032080_43032089del, NC_000017.11:g.43032081_43032089del, NC_000017.11:g.43032082_43032089del, NC_000017.11:g.43032083_43032089del, NC_000017.11:g.43032084_43032089del, NC_000017.11:g.43032085_43032089del, NC_000017.11:g.43032086_43032089del, NC_000017.11:g.43032087_43032089del, NC_000017.11:g.43032088_43032089del, NC_000017.11:g.43032089del, NC_000017.11:g.43032089dup, NC_000017.11:g.43032088_43032089dup, NC_000017.11:g.43032087_43032089dup, NC_000017.11:g.43032086_43032089dup, NC_000017.11:g.43032085_43032089dup, NC_000017.11:g.43032084_43032089dup, NC_000017.11:g.43032083_43032089dup, NC_000017.11:g.43032082_43032089dup, NC_000017.11:g.43032081_43032089dup, NC_000017.11:g.43032080_43032089dup, NC_000017.11:g.43032079_43032089dup, NC_000017.11:g.43032063_43032089dup, NC_000017.11:g.43032089_43032090insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.43032089_43032090insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.41184089_41184106del, NC_000017.10:g.41184092_41184106del, NC_000017.10:g.41184093_41184106del, NC_000017.10:g.41184094_41184106del, NC_000017.10:g.41184095_41184106del, NC_000017.10:g.41184096_41184106del, NC_000017.10:g.41184097_41184106del, NC_000017.10:g.41184098_41184106del, NC_000017.10:g.41184099_41184106del, NC_000017.10:g.41184100_41184106del, NC_000017.10:g.41184101_41184106del, NC_000017.10:g.41184102_41184106del, NC_000017.10:g.41184103_41184106del, NC_000017.10:g.41184104_41184106del, NC_000017.10:g.41184105_41184106del, NC_000017.10:g.41184106del, NC_000017.10:g.41184106dup, NC_000017.10:g.41184105_41184106dup, NC_000017.10:g.41184104_41184106dup, NC_000017.10:g.41184103_41184106dup, NC_000017.10:g.41184102_41184106dup, NC_000017.10:g.41184101_41184106dup, NC_000017.10:g.41184100_41184106dup, NC_000017.10:g.41184099_41184106dup, NC_000017.10:g.41184098_41184106dup, NC_000017.10:g.41184097_41184106dup, NC_000017.10:g.41184096_41184106dup, NC_000017.10:g.41184080_41184106dup, NC_000017.10:g.41184106_41184107insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.41184106_41184107insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_005905.2:g.185905_185922del, NG_005905.2:g.185908_185922del, NG_005905.2:g.185909_185922del, NG_005905.2:g.185910_185922del, NG_005905.2:g.185911_185922del, NG_005905.2:g.185912_185922del, NG_005905.2:g.185913_185922del, NG_005905.2:g.185914_185922del, NG_005905.2:g.185915_185922del, NG_005905.2:g.185916_185922del, NG_005905.2:g.185917_185922del, NG_005905.2:g.185918_185922del, NG_005905.2:g.185919_185922del, NG_005905.2:g.185920_185922del, NG_005905.2:g.185921_185922del, NG_005905.2:g.185922del, NG_005905.2:g.185922dup, NG_005905.2:g.185921_185922dup, NG_005905.2:g.185920_185922dup, NG_005905.2:g.185919_185922dup, NG_005905.2:g.185918_185922dup, NG_005905.2:g.185917_185922dup, NG_005905.2:g.185916_185922dup, NG_005905.2:g.185915_185922dup, NG_005905.2:g.185914_185922dup, NG_005905.2:g.185913_185922dup, NG_005905.2:g.185912_185922dup, NG_005905.2:g.185896_185922dup, NG_005905.2:g.185922_185923insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005905.2:g.185922_185923insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        4.

        rs1491292338 has merged into rs570226935 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GGGGGGGGGGG>-,G,GG,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
          Chromosome:
          17:43025801 (GRCh38)
          17:41177818 (GRCh37)
          Canonical SPDI:
          NC_000017.11:43025792:GGGGGGGGGGGGGGGGGGG:GGGGGGGG,NC_000017.11:43025792:GGGGGGGGGGGGGGGGGGG:GGGGGGGGG,NC_000017.11:43025792:GGGGGGGGGGGGGGGGGGG:GGGGGGGGGG,NC_000017.11:43025792:GGGGGGGGGGGGGGGGGGG:GGGGGGGGGGG,NC_000017.11:43025792:GGGGGGGGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000017.11:43025792:GGGGGGGGGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000017.11:43025792:GGGGGGGGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000017.11:43025792:GGGGGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000017.11:43025792:GGGGGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000017.11:43025792:GGGGGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000017.11:43025792:GGGGGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000017.11:43025792:GGGGGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000017.11:43025792:GGGGGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000017.11:43025792:GGGGGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000017.11:43025792:GGGGGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000017.11:43025792:GGGGGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGG,NC_000017.11:43025792:GGGGGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG,NC_000017.11:43025792:GGGGGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000017.11:43025792:GGGGGGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
          Gene:
          RND2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GGGGGGGG=0./0 (ALFA)
          -=0.014/8 (NorthernSweden)
          -=0.4545/2276 (1000Genomes)
          HGVS:
          NC_000017.11:g.43025801_43025811del, NC_000017.11:g.43025802_43025811del, NC_000017.11:g.43025803_43025811del, NC_000017.11:g.43025804_43025811del, NC_000017.11:g.43025805_43025811del, NC_000017.11:g.43025806_43025811del, NC_000017.11:g.43025807_43025811del, NC_000017.11:g.43025808_43025811del, NC_000017.11:g.43025809_43025811del, NC_000017.11:g.43025810_43025811del, NC_000017.11:g.43025811del, NC_000017.11:g.43025811dup, NC_000017.11:g.43025793_43025811G[20]AGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000017.11:g.43025810_43025811dup, NC_000017.11:g.43025809_43025811dup, NC_000017.11:g.43025807_43025811dup, NC_000017.11:g.43025806_43025811dup, NC_000017.11:g.43025801_43025811dup, NC_000017.11:g.43025800_43025811dup, NC_000017.10:g.41177818_41177828del, NC_000017.10:g.41177819_41177828del, NC_000017.10:g.41177820_41177828del, NC_000017.10:g.41177821_41177828del, NC_000017.10:g.41177822_41177828del, NC_000017.10:g.41177823_41177828del, NC_000017.10:g.41177824_41177828del, NC_000017.10:g.41177825_41177828del, NC_000017.10:g.41177826_41177828del, NC_000017.10:g.41177827_41177828del, NC_000017.10:g.41177828del, NC_000017.10:g.41177828dup, NC_000017.10:g.41177810_41177828G[20]AGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NC_000017.10:g.41177827_41177828dup, NC_000017.10:g.41177826_41177828dup, NC_000017.10:g.41177824_41177828dup, NC_000017.10:g.41177823_41177828dup, NC_000017.10:g.41177818_41177828dup, NC_000017.10:g.41177817_41177828dup, NG_005905.2:g.192181_192191del, NG_005905.2:g.192182_192191del, NG_005905.2:g.192183_192191del, NG_005905.2:g.192184_192191del, NG_005905.2:g.192185_192191del, NG_005905.2:g.192186_192191del, NG_005905.2:g.192187_192191del, NG_005905.2:g.192188_192191del, NG_005905.2:g.192189_192191del, NG_005905.2:g.192190_192191del, NG_005905.2:g.192191del, NG_005905.2:g.192191dup, NG_005905.2:g.192173_192191C[29]TCCCCCCCCCCCCCCCCCCCC[1], NG_005905.2:g.192190_192191dup, NG_005905.2:g.192189_192191dup, NG_005905.2:g.192187_192191dup, NG_005905.2:g.192186_192191dup, NG_005905.2:g.192181_192191dup, NG_005905.2:g.192180_192191dup
          5.

          rs1490807032 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            17:43025235 (GRCh38)
            17:41177252 (GRCh37)
            Canonical SPDI:
            NC_000017.11:43025234:G:T
            Gene:
            RND2 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1490674143 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              17:43026344 (GRCh38)
              17:41178361 (GRCh37)
              Canonical SPDI:
              NC_000017.11:43026343:C:A
              Gene:
              RND2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1490606783 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                17:43028316 (GRCh38)
                17:41180333 (GRCh37)
                Canonical SPDI:
                NC_000017.11:43028315:G:A
                Gene:
                RND2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490491512 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  17:43028715 (GRCh38)
                  17:41180732 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:43028714:G:A,NC_000017.11:43028714:G:C
                  Gene:
                  RND2 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,intron_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  A=0.000007/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1490374777 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    17:43032502 (GRCh38)
                    17:41184519 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:43032501:C:T
                    Gene:
                    RND2 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1489958446 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      17:43023912 (GRCh38)
                      17:41175929 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:43023911:G:T
                      Gene:
                      RND2 (Varview), VAT1 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1488632721 has merged into rs56288510 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                        Chromosome:
                        17:43029914 (GRCh38)
                        17:41181931 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                        Gene:
                        RND2 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAA=0./0 (ALFA)
                        -=0.125/5 (GENOME_DK)
                        HGVS:
                        NC_000017.11:g.43029914_43029928del, NC_000017.11:g.43029915_43029928del, NC_000017.11:g.43029916_43029928del, NC_000017.11:g.43029917_43029928del, NC_000017.11:g.43029918_43029928del, NC_000017.11:g.43029919_43029928del, NC_000017.11:g.43029920_43029928del, NC_000017.11:g.43029921_43029928del, NC_000017.11:g.43029922_43029928del, NC_000017.11:g.43029924_43029928del, NC_000017.11:g.43029925_43029928del, NC_000017.11:g.43029926_43029928del, NC_000017.11:g.43029927_43029928del, NC_000017.11:g.43029928del, NC_000017.11:g.43029928dup, NC_000017.11:g.43029927_43029928dup, NC_000017.11:g.43029926_43029928dup, NC_000017.11:g.43029925_43029928dup, NC_000017.11:g.43029924_43029928dup, NC_000017.11:g.43029923_43029928dup, NC_000017.10:g.41181931_41181945del, NC_000017.10:g.41181932_41181945del, NC_000017.10:g.41181933_41181945del, NC_000017.10:g.41181934_41181945del, NC_000017.10:g.41181935_41181945del, NC_000017.10:g.41181936_41181945del, NC_000017.10:g.41181937_41181945del, NC_000017.10:g.41181938_41181945del, NC_000017.10:g.41181939_41181945del, NC_000017.10:g.41181941_41181945del, NC_000017.10:g.41181942_41181945del, NC_000017.10:g.41181943_41181945del, NC_000017.10:g.41181944_41181945del, NC_000017.10:g.41181945del, NC_000017.10:g.41181945dup, NC_000017.10:g.41181944_41181945dup, NC_000017.10:g.41181943_41181945dup, NC_000017.10:g.41181942_41181945dup, NC_000017.10:g.41181941_41181945dup, NC_000017.10:g.41181940_41181945dup, NG_005905.2:g.188065_188079del, NG_005905.2:g.188066_188079del, NG_005905.2:g.188067_188079del, NG_005905.2:g.188068_188079del, NG_005905.2:g.188069_188079del, NG_005905.2:g.188070_188079del, NG_005905.2:g.188071_188079del, NG_005905.2:g.188072_188079del, NG_005905.2:g.188073_188079del, NG_005905.2:g.188075_188079del, NG_005905.2:g.188076_188079del, NG_005905.2:g.188077_188079del, NG_005905.2:g.188078_188079del, NG_005905.2:g.188079del, NG_005905.2:g.188079dup, NG_005905.2:g.188078_188079dup, NG_005905.2:g.188077_188079dup, NG_005905.2:g.188076_188079dup, NG_005905.2:g.188075_188079dup, NG_005905.2:g.188074_188079dup, NM_005440.5:c.*1234_*1248del, NM_005440.5:c.*1235_*1248del, NM_005440.5:c.*1236_*1248del, NM_005440.5:c.*1237_*1248del, NM_005440.5:c.*1238_*1248del, NM_005440.5:c.*1239_*1248del, NM_005440.5:c.*1240_*1248del, NM_005440.5:c.*1241_*1248del, NM_005440.5:c.*1242_*1248del, NM_005440.5:c.*1244_*1248del, NM_005440.5:c.*1245_*1248del, NM_005440.5:c.*1246_*1248del, NM_005440.5:c.*1247_*1248del, NM_005440.5:c.*1248del, NM_005440.5:c.*1248dup, NM_005440.5:c.*1247_*1248dup, NM_005440.5:c.*1246_*1248dup, NM_005440.5:c.*1245_*1248dup, NM_005440.5:c.*1244_*1248dup, NM_005440.5:c.*1243_*1248dup, NM_005440.4:c.*1234_*1248del, NM_005440.4:c.*1235_*1248del, NM_005440.4:c.*1236_*1248del, NM_005440.4:c.*1237_*1248del, NM_005440.4:c.*1238_*1248del, NM_005440.4:c.*1239_*1248del, NM_005440.4:c.*1240_*1248del, NM_005440.4:c.*1241_*1248del, NM_005440.4:c.*1242_*1248del, NM_005440.4:c.*1244_*1248del, NM_005440.4:c.*1245_*1248del, NM_005440.4:c.*1246_*1248del, NM_005440.4:c.*1247_*1248del, NM_005440.4:c.*1248del, NM_005440.4:c.*1248dup, NM_005440.4:c.*1247_*1248dup, NM_005440.4:c.*1246_*1248dup, NM_005440.4:c.*1245_*1248dup, NM_005440.4:c.*1244_*1248dup, NM_005440.4:c.*1243_*1248dup
                        12.

                        rs1488500492 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          17:43031628 (GRCh38)
                          17:41183645 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:43031627:T:C
                          Gene:
                          RND2 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1487799983 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C,T [Show Flanks]
                            Chromosome:
                            17:43025786 (GRCh38)
                            17:41177803 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:43025785:A:C,NC_000017.11:43025785:A:T
                            Gene:
                            RND2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1487768260 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:43024897 (GRCh38)
                              17:41176914 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:43024896:C:T
                              Gene:
                              RND2 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000011/3 (TOPMED)
                              C=0.5/1 (SGDP_PRJ)
                              HGVS:
                              15.

                              rs1487455351 has merged into rs56288510 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                Chromosome:
                                17:43029914 (GRCh38)
                                17:41181931 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43029904:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                Gene:
                                RND2 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAAAAAA=0./0 (ALFA)
                                -=0.125/5 (GENOME_DK)
                                HGVS:
                                NC_000017.11:g.43029914_43029928del, NC_000017.11:g.43029915_43029928del, NC_000017.11:g.43029916_43029928del, NC_000017.11:g.43029917_43029928del, NC_000017.11:g.43029918_43029928del, NC_000017.11:g.43029919_43029928del, NC_000017.11:g.43029920_43029928del, NC_000017.11:g.43029921_43029928del, NC_000017.11:g.43029922_43029928del, NC_000017.11:g.43029924_43029928del, NC_000017.11:g.43029925_43029928del, NC_000017.11:g.43029926_43029928del, NC_000017.11:g.43029927_43029928del, NC_000017.11:g.43029928del, NC_000017.11:g.43029928dup, NC_000017.11:g.43029927_43029928dup, NC_000017.11:g.43029926_43029928dup, NC_000017.11:g.43029925_43029928dup, NC_000017.11:g.43029924_43029928dup, NC_000017.11:g.43029923_43029928dup, NC_000017.10:g.41181931_41181945del, NC_000017.10:g.41181932_41181945del, NC_000017.10:g.41181933_41181945del, NC_000017.10:g.41181934_41181945del, NC_000017.10:g.41181935_41181945del, NC_000017.10:g.41181936_41181945del, NC_000017.10:g.41181937_41181945del, NC_000017.10:g.41181938_41181945del, NC_000017.10:g.41181939_41181945del, NC_000017.10:g.41181941_41181945del, NC_000017.10:g.41181942_41181945del, NC_000017.10:g.41181943_41181945del, NC_000017.10:g.41181944_41181945del, NC_000017.10:g.41181945del, NC_000017.10:g.41181945dup, NC_000017.10:g.41181944_41181945dup, NC_000017.10:g.41181943_41181945dup, NC_000017.10:g.41181942_41181945dup, NC_000017.10:g.41181941_41181945dup, NC_000017.10:g.41181940_41181945dup, NG_005905.2:g.188065_188079del, NG_005905.2:g.188066_188079del, NG_005905.2:g.188067_188079del, NG_005905.2:g.188068_188079del, NG_005905.2:g.188069_188079del, NG_005905.2:g.188070_188079del, NG_005905.2:g.188071_188079del, NG_005905.2:g.188072_188079del, NG_005905.2:g.188073_188079del, NG_005905.2:g.188075_188079del, NG_005905.2:g.188076_188079del, NG_005905.2:g.188077_188079del, NG_005905.2:g.188078_188079del, NG_005905.2:g.188079del, NG_005905.2:g.188079dup, NG_005905.2:g.188078_188079dup, NG_005905.2:g.188077_188079dup, NG_005905.2:g.188076_188079dup, NG_005905.2:g.188075_188079dup, NG_005905.2:g.188074_188079dup, NM_005440.5:c.*1234_*1248del, NM_005440.5:c.*1235_*1248del, NM_005440.5:c.*1236_*1248del, NM_005440.5:c.*1237_*1248del, NM_005440.5:c.*1238_*1248del, NM_005440.5:c.*1239_*1248del, NM_005440.5:c.*1240_*1248del, NM_005440.5:c.*1241_*1248del, NM_005440.5:c.*1242_*1248del, NM_005440.5:c.*1244_*1248del, NM_005440.5:c.*1245_*1248del, NM_005440.5:c.*1246_*1248del, NM_005440.5:c.*1247_*1248del, NM_005440.5:c.*1248del, NM_005440.5:c.*1248dup, NM_005440.5:c.*1247_*1248dup, NM_005440.5:c.*1246_*1248dup, NM_005440.5:c.*1245_*1248dup, NM_005440.5:c.*1244_*1248dup, NM_005440.5:c.*1243_*1248dup, NM_005440.4:c.*1234_*1248del, NM_005440.4:c.*1235_*1248del, NM_005440.4:c.*1236_*1248del, NM_005440.4:c.*1237_*1248del, NM_005440.4:c.*1238_*1248del, NM_005440.4:c.*1239_*1248del, NM_005440.4:c.*1240_*1248del, NM_005440.4:c.*1241_*1248del, NM_005440.4:c.*1242_*1248del, NM_005440.4:c.*1244_*1248del, NM_005440.4:c.*1245_*1248del, NM_005440.4:c.*1246_*1248del, NM_005440.4:c.*1247_*1248del, NM_005440.4:c.*1248del, NM_005440.4:c.*1248dup, NM_005440.4:c.*1247_*1248dup, NM_005440.4:c.*1246_*1248dup, NM_005440.4:c.*1245_*1248dup, NM_005440.4:c.*1244_*1248dup, NM_005440.4:c.*1243_*1248dup
                                16.

                                rs1487351422 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  17:43028760 (GRCh38)
                                  17:41180777 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:43028759:C:G
                                  Gene:
                                  RND2 (Varview)
                                  Functional Consequence:
                                  3_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:
                                  17.

                                  rs1487288583 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,C [Show Flanks]
                                    Chromosome:
                                    17:43027122 (GRCh38)
                                    17:41179139 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:43027121:T:A,NC_000017.11:43027121:T:C
                                    Gene:
                                    RND2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000132/2 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    A=0.000446/2 (Estonian)
                                    HGVS:
                                    18.

                                    rs1487256809 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      17:43024654 (GRCh38)
                                      17:41176671 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:43024653:C:T
                                      Gene:
                                      RND2 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1487256208 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        17:43025639 (GRCh38)
                                        17:41177656 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:43025638:G:A
                                        Gene:
                                        RND2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1487100706 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          17:43030589 (GRCh38)
                                          17:41182606 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:43030588:A:C
                                          Gene:
                                          RND2 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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