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Items: 1 to 20 of 244

1.

rs1491589052 has merged into rs1158870262 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
    Chromosome:
    1:148752058 (GRCh38)
    1:14 (GRCh37)
    Canonical SPDI:
    NC_000001.11:148752042:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:148752042:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:148752042:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:148752042:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:148752042:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:148752042:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:148752042:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
    Gene:
    NUDT4B (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTTT=0./0 (ALFA)
    HGVS:
    NC_000001.11:g.148752058_148752060del, NC_000001.11:g.148752059_148752060del, NC_000001.11:g.148752060del, NC_000001.11:g.148752060dup, NC_000001.11:g.148752059_148752060dup, NC_000001.11:g.148752058_148752060dup, NC_000001.11:g.148752057_148752060dup, NW_003871055.3:g.5567471_5567473del, NW_003871055.3:g.5567472_5567473del, NW_003871055.3:g.5567473del, NW_003871055.3:g.5567473dup, NW_003871055.3:g.5567472_5567473dup, NW_003871055.3:g.5567471_5567473dup, NW_003871055.3:g.5567470_5567473dup, NR_002212.4:n.3459_3461del, NR_002212.4:n.3460_3461del, NR_002212.4:n.3461del, NR_002212.4:n.3461dup, NR_002212.4:n.3460_3461dup, NR_002212.4:n.3459_3461dup, NR_002212.4:n.3458_3461dup, NM_001355407.2:c.*2560_*2562del, NM_001355407.2:c.*2561_*2562del, NM_001355407.2:c.*2562del, NM_001355407.2:c.*2562dup, NM_001355407.2:c.*2561_*2562dup, NM_001355407.2:c.*2560_*2562dup, NM_001355407.2:c.*2559_*2562dup, NM_001355407.1:c.*2560_*2562del, NM_001355407.1:c.*2561_*2562del, NM_001355407.1:c.*2562del, NM_001355407.1:c.*2562dup, NM_001355407.1:c.*2561_*2562dup, NM_001355407.1:c.*2560_*2562dup, NM_001355407.1:c.*2559_*2562dup
    2.

    rs1491117777 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->C [Show Flanks]
      Chromosome:
      1:148752043 (GRCh38)
      1:-1 (GRCh37)
      Canonical SPDI:
      NC_000001.11:148752043::C
      Gene:
      NUDT4B (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.00145/4 (GnomAD)
      HGVS:
      3.

      rs1489331089 has merged into rs146923898 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
        Chromosome:
        1:148752406 (GRCh38)
        1:9 (GRCh37)
        Canonical SPDI:
        NC_000001.11:148752395:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:148752395:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:148752395:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:148752395:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:148752395:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:148752395:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:148752395:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:148752395:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:148752395:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:148752395:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
        Gene:
        NUDT4B (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAAAA=0./0 (ALFA)
        HGVS:
        NC_000001.11:g.148752406_148752412del, NC_000001.11:g.148752409_148752412del, NC_000001.11:g.148752410_148752412del, NC_000001.11:g.148752411_148752412del, NC_000001.11:g.148752412del, NC_000001.11:g.148752412dup, NC_000001.11:g.148752411_148752412dup, NC_000001.11:g.148752410_148752412dup, NC_000001.11:g.148752409_148752412dup, NC_000001.11:g.148752408_148752412dup, NW_003871055.3:g.5567819_5567825del, NW_003871055.3:g.5567822_5567825del, NW_003871055.3:g.5567823_5567825del, NW_003871055.3:g.5567824_5567825del, NW_003871055.3:g.5567825del, NW_003871055.3:g.5567825dup, NW_003871055.3:g.5567824_5567825dup, NW_003871055.3:g.5567823_5567825dup, NW_003871055.3:g.5567822_5567825dup, NW_003871055.3:g.5567821_5567825dup, NM_001355407.2:c.*2908_*2914del, NM_001355407.2:c.*2911_*2914del, NM_001355407.2:c.*2912_*2914del, NM_001355407.2:c.*2913_*2914del, NM_001355407.2:c.*2914del, NM_001355407.2:c.*2914dup, NM_001355407.2:c.*2913_*2914dup, NM_001355407.2:c.*2912_*2914dup, NM_001355407.2:c.*2911_*2914dup, NM_001355407.2:c.*2910_*2914dup, NM_001355407.1:c.*2908_*2914del, NM_001355407.1:c.*2911_*2914del, NM_001355407.1:c.*2912_*2914del, NM_001355407.1:c.*2913_*2914del, NM_001355407.1:c.*2914del, NM_001355407.1:c.*2914dup, NM_001355407.1:c.*2913_*2914dup, NM_001355407.1:c.*2912_*2914dup, NM_001355407.1:c.*2911_*2914dup, NM_001355407.1:c.*2910_*2914dup
        4.

        rs1483808197 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          1:148751802 (GRCh38)
          1:-1 (GRCh37)
          Canonical SPDI:
          NC_000001.11:148751801:A:C
          Gene:
          NUDT4B (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          HGVS:
          5.

          rs1483393944 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            1:148751964 (GRCh38)
            1:-1 (GRCh37)
            Canonical SPDI:
            NC_000001.11:148751963:A:C
            Gene:
            NUDT4B (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            HGVS:
            6.

            rs1479765483 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:148751790 (GRCh38)
              1:-1 (GRCh37)
              Canonical SPDI:
              NC_000001.11:148751789:G:A
              Gene:
              NUDT4B (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              HGVS:
              7.

              rs1474147769 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                A>- [Show Flanks]
                Chromosome:
                1:148752440 (GRCh38)
                1:-1 (GRCh37)
                Canonical SPDI:
                NC_000001.11:148752439:AAAA:AAA
                Gene:
                NUDT4B (Varview)
                Functional Consequence:
                downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                AAA=0./0 (ALFA)
                HGVS:
                8.

                rs1473782637 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  1:148751942 (GRCh38)
                  1:-1 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:148751941:G:T
                  Gene:
                  NUDT4B (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0.00076/9 (ALFA)
                  HGVS:
                  9.

                  rs1468653416 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    1:148751913 (GRCh38)
                    1:-1 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:148751912:T:A
                    Gene:
                    NUDT4B (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1461733388 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      1:148751894 (GRCh38)
                      1:-1 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:148751893:A:C
                      Gene:
                      NUDT4B (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1460475868 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        1:148752044 (GRCh38)
                        1:-1 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:148752043:T:C
                        Gene:
                        NUDT4B (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0.01745/207 (ALFA)
                        C=0.10381/441 (GnomAD)
                        HGVS:
                        12.

                        rs1458750012 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          1:148752372 (GRCh38)
                          1:-1 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:148752371:C:A
                          Gene:
                          NUDT4B (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.0612/726 (ALFA)
                          A=0.00112/23 (TOMMO)
                          HGVS:
                          13.

                          rs1445171124 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A,G [Show Flanks]
                            Chromosome:
                            1:148752394 (GRCh38)
                            1:-1 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:148752393:T:A,NC_000001.11:148752393:T:G
                            Gene:
                            NUDT4B (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            A=0.00238/37 (TOMMO)
                            HGVS:
                            14.

                            rs1443673438 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              1:148752379 (GRCh38)
                              1:-1 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:148752378:T:A
                              Gene:
                              NUDT4B (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.18235/2163 (ALFA)
                              A=0.00117/23 (TOMMO)
                              A=0.02162/8 (Korea1K)
                              HGVS:
                              15.

                              rs1437869298 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                1:148752329 (GRCh38)
                                1:-1 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:148752328:G:A,NC_000001.11:148752328:G:T
                                Gene:
                                NUDT4B (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                T=0.0003/7 (TOMMO)
                                HGVS:
                                16.

                                rs1434285426 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  1:148751676 (GRCh38)
                                  1:-1 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:148751675:A:G
                                  Gene:
                                  NUDT4B (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0.00017/2 (ALFA)
                                  G=0.00023/4 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1430594368 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    1:148751716 (GRCh38)
                                    1:-1 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:148751715:T:C
                                    Gene:
                                    NUDT4B (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1429238215 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      A>- [Show Flanks]
                                      Chromosome:
                                      1:148751917 (GRCh38)
                                      1:-1 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:148751916:AAAA:AAA
                                      Gene:
                                      NUDT4B (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      AAA=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1428147709 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->A [Show Flanks]
                                        Chromosome:
                                        1:148752592 (GRCh38)
                                        1:-1 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:148752592:AA:AAA
                                        Gene:
                                        NUDT4B (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AAA=0.18454/2189 (ALFA)
                                        A=0.17045/1142 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1428010468 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:148751756 (GRCh38)
                                          1:-1 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:148751755:T:C
                                          Gene:
                                          NUDT4B (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.00002/1 (GnomAD)
                                          HGVS:

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