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1.

rs1491587639 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    1:11272018 (GRCh38)
    1:11332075 (GRCh37)
    Canonical SPDI:
    NC_000001.11:11272012:TCTCTCT:TCTCT
    Gene:
    UBIAD1 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TCTCT=0./0 (ALFA)
    -=0.000029/4 (GnomAD)
    -=0.000035/1 (TOMMO)
    -=0.000038/10 (TOPMED)
    HGVS:
    2.

    rs1491371674 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TC>- [Show Flanks]
      Chromosome:
      1:11282577 (GRCh38)
      1:11342634 (GRCh37)
      Canonical SPDI:
      NC_000001.11:11282576:TC:
      Gene:
      UBIAD1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1491104852 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->TTTC [Show Flanks]
        Chromosome:
        1:11282577 (GRCh38)
        1:11342635 (GRCh37)
        Canonical SPDI:
        NC_000001.11:11282577::TTTC
        Gene:
        UBIAD1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTC=0./0 (ALFA)
        TTTC=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1491098668 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->C [Show Flanks]
          Chromosome:
          1:11272013 (GRCh38)
          1:11332071 (GRCh37)
          Canonical SPDI:
          NC_000001.11:11272013:C:CC
          Gene:
          UBIAD1 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CC=0.000071/1 (ALFA)
          C=0.000014/2 (GnomAD)
          C=0.000015/4 (TOPMED)
          HGVS:
          5.

          rs1491053758 has merged into rs34509238 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            1:11282569 (GRCh38)
            1:11342626 (GRCh37)
            Canonical SPDI:
            NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11282558:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            UBIAD1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTT=0./0 (ALFA)
            HGVS:
            NC_000001.11:g.11282569_11282577del, NC_000001.11:g.11282571_11282577del, NC_000001.11:g.11282573_11282577del, NC_000001.11:g.11282574_11282577del, NC_000001.11:g.11282575_11282577del, NC_000001.11:g.11282576_11282577del, NC_000001.11:g.11282577del, NC_000001.11:g.11282577dup, NC_000001.11:g.11282576_11282577dup, NC_000001.11:g.11282575_11282577dup, NC_000001.11:g.11282574_11282577dup, NC_000001.11:g.11282573_11282577dup, NC_000001.11:g.11282571_11282577dup, NC_000001.10:g.11342626_11342634del, NC_000001.10:g.11342628_11342634del, NC_000001.10:g.11342630_11342634del, NC_000001.10:g.11342631_11342634del, NC_000001.10:g.11342632_11342634del, NC_000001.10:g.11342633_11342634del, NC_000001.10:g.11342634del, NC_000001.10:g.11342634dup, NC_000001.10:g.11342633_11342634dup, NC_000001.10:g.11342632_11342634dup, NC_000001.10:g.11342631_11342634dup, NC_000001.10:g.11342630_11342634dup, NC_000001.10:g.11342628_11342634dup, NG_009443.2:g.14372_14380del, NG_009443.2:g.14374_14380del, NG_009443.2:g.14376_14380del, NG_009443.2:g.14377_14380del, NG_009443.2:g.14378_14380del, NG_009443.2:g.14379_14380del, NG_009443.2:g.14380del, NG_009443.2:g.14380dup, NG_009443.2:g.14379_14380dup, NG_009443.2:g.14378_14380dup, NG_009443.2:g.14377_14380dup, NG_009443.2:g.14376_14380dup, NG_009443.2:g.14374_14380dup
            6.
            7.

            rs1490846881 has merged into rs949736645 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              G>-,GGG [Show Flanks]
              Chromosome:
              1:11284439 (GRCh38)
              1:11344496 (GRCh37)
              Canonical SPDI:
              NC_000001.11:11284438:GGGGG:GGGG,NC_000001.11:11284438:GGGGG:GGGGGGG
              Gene:
              UBIAD1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              GGGGGGG=0./0 (ALFA)
              -=0.000026/7 (TOPMED)
              HGVS:
              8.

              rs1490756206 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TT>- [Show Flanks]
                Chromosome:
                1:11276993 (GRCh38)
                1:11337050 (GRCh37)
                Canonical SPDI:
                NC_000001.11:11276991:TTT:T
                Gene:
                UBIAD1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                -=0.000011/3 (TOPMED)
                HGVS:
                9.

                rs1490728293 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  1:11276158 (GRCh38)
                  1:11336215 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:11276157:A:C
                  Gene:
                  UBIAD1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000035/1 (TOMMO)
                  HGVS:
                  10.

                  rs1490608630 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    G>- [Show Flanks]
                    Chromosome:
                    1:11291379 (GRCh38)
                    1:11351436 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:11291378:GGG:GG
                    Gene:
                    UBIAD1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    GG=0./0 (ALFA)
                    -=0.000014/2 (GnomAD)
                    -=0.000026/7 (TOPMED)
                    -=0.000546/1 (Korea1K)
                    HGVS:
                    11.

                    rs1490407745 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:11298965 (GRCh38)
                      1:11359022 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:11298964:C:T
                      Gene:
                      UBIAD1 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,genic_downstream_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:
                      12.

                      rs1490394971 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:11274168 (GRCh38)
                        1:11334225 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:11274167:C:T
                        Gene:
                        UBIAD1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000071/1 (ALFA)
                        T=0.000008/2 (TOPMED)
                        T=0.000021/3 (GnomAD)
                        HGVS:
                        13.

                        rs1490384118 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->T [Show Flanks]
                          Chromosome:
                          1:11284793 (GRCh38)
                          1:11344851 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:11284793:T:TT
                          Gene:
                          UBIAD1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          TT=0./0 (ALFA)
                          T=0.000015/4 (TOPMED)
                          HGVS:
                          14.

                          rs1490062376 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            1:11298124 (GRCh38)
                            1:11358181 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:11298123:T:A
                            Gene:
                            UBIAD1 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000008/2 (TOPMED)
                            A=0.000014/2 (GnomAD)
                            HGVS:
                            15.

                            rs1490028359 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->A [Show Flanks]
                              Chromosome:
                              1:11283878 (GRCh38)
                              1:11343936 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:11283878:AA:AAA
                              Gene:
                              UBIAD1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAA=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              16.

                              rs1489951183 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:11299101 (GRCh38)
                                1:11359158 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:11299100:T:C
                                Gene:
                                UBIAD1 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                17.

                                rs1489828361 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:11291825 (GRCh38)
                                  1:11351882 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:11291824:C:T
                                  Gene:
                                  UBIAD1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_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:
                                  18.

                                  rs1489473010 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:11278741 (GRCh38)
                                    1:11338798 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:11278740:G:A
                                    Gene:
                                    UBIAD1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    19.

                                    rs1489247284 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      1:11295231 (GRCh38)
                                      1:11355288 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:11295230:C:G
                                      Gene:
                                      UBIAD1 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:
                                      20.

                                      rs1488843543 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        1:11292803 (GRCh38)
                                        1:11352860 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:11292802:C:G
                                        Gene:
                                        UBIAD1 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000011/3 (TOPMED)
                                        HGVS:

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