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Items: 1 to 20 of 1000

1.

rs1491235387 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TC>- [Show Flanks]
    Chromosome:
    20:25696087 (GRCh38)
    20:25676723 (GRCh37)
    Canonical SPDI:
    NC_000020.11:25696086:TC:
    Gene:
    ZNF337 (Varview), LOC107985400 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.00034/4 (ALFA)
    -=0.00023/13 (GnomAD)
    -=0.00152/24 (TOMMO)
    HGVS:
    2.

    rs1491195722 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->A,AC,GC,GCC,TC,TCC [Show Flanks]
      Chromosome:
      20:25696087 (GRCh38)
      20:25676724 (GRCh37)
      Canonical SPDI:
      NC_000020.11:25696087::A,NC_000020.11:25696087::AC,NC_000020.11:25696087::GC,NC_000020.11:25696087::GCC,NC_000020.11:25696087::TC,NC_000020.11:25696087::TCC
      Gene:
      ZNF337 (Varview), LOC107985400 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TC=0./0 (ALFA)
      HGVS:
      NC_000020.11:g.25696087_25696088insA, NC_000020.11:g.25696087_25696088insAC, NC_000020.11:g.25696087_25696088insGC, NC_000020.11:g.25696087_25696088insGCC, NC_000020.11:g.25696087_25696088insTC, NC_000020.11:g.25696087_25696088insTCC, NC_000020.10:g.25676723_25676724insA, NC_000020.10:g.25676723_25676724insAC, NC_000020.10:g.25676723_25676724insGC, NC_000020.10:g.25676723_25676724insGCC, NC_000020.10:g.25676723_25676724insTC, NC_000020.10:g.25676723_25676724insTCC, NG_034058.1:g.5817_5818insT, NG_034058.1:g.5817_5818insGT, NG_034058.1:g.5817_5818insGC, NG_034058.1:g.5817_5818insGGC, NG_034058.1:g.5817_5818insGA, NG_034058.1:g.5817_5818insGGA, XM_006723558.5:c.-4638_-4637insT, XM_006723558.5:c.-4638_-4637insGT, XM_006723558.5:c.-4638_-4637insGC, XM_006723558.5:c.-4638_-4637insGGC, XM_006723558.5:c.-4638_-4637insGA, XM_006723558.5:c.-4638_-4637insGGA, XM_006723558.4:c.-4638_-4637insT, XM_006723558.4:c.-4638_-4637insGT, XM_006723558.4:c.-4638_-4637insGC, XM_006723558.4:c.-4638_-4637insGGC, XM_006723558.4:c.-4638_-4637insGA, XM_006723558.4:c.-4638_-4637insGGA
      3.

      rs1491108359 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->A [Show Flanks]
        Chromosome:
        20:25696100 (GRCh38)
        20:25676737 (GRCh37)
        Canonical SPDI:
        NC_000020.11:25696100::A
        Gene:
        ZNF337 (Varview), LOC107985400 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000009/1 (GnomAD)
        HGVS:
        4.

        rs1491064138 has merged into rs35337654 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          20:25689147 (GRCh38)
          20:25669783 (GRCh37)
          Canonical SPDI:
          NC_000020.11:25689134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:25689134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:25689134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:25689134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:25689134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:25689134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:25689134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:25689134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:25689134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:25689134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:25689134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:25689134:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          ZNF337 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAAAA=0./0 (ALFA)
          -=0.25/2 (KOREAN)
          HGVS:
          NC_000020.11:g.25689147_25689154del, NC_000020.11:g.25689148_25689154del, NC_000020.11:g.25689150_25689154del, NC_000020.11:g.25689151_25689154del, NC_000020.11:g.25689152_25689154del, NC_000020.11:g.25689153_25689154del, NC_000020.11:g.25689154del, NC_000020.11:g.25689154dup, NC_000020.11:g.25689153_25689154dup, NC_000020.11:g.25689152_25689154dup, NC_000020.11:g.25689151_25689154dup, NC_000020.11:g.25689150_25689154dup, NC_000020.10:g.25669783_25669790del, NC_000020.10:g.25669784_25669790del, NC_000020.10:g.25669786_25669790del, NC_000020.10:g.25669787_25669790del, NC_000020.10:g.25669788_25669790del, NC_000020.10:g.25669789_25669790del, NC_000020.10:g.25669790del, NC_000020.10:g.25669790dup, NC_000020.10:g.25669789_25669790dup, NC_000020.10:g.25669788_25669790dup, NC_000020.10:g.25669787_25669790dup, NC_000020.10:g.25669786_25669790dup, NG_034058.1:g.12763_12770del, NG_034058.1:g.12764_12770del, NG_034058.1:g.12766_12770del, NG_034058.1:g.12767_12770del, NG_034058.1:g.12768_12770del, NG_034058.1:g.12769_12770del, NG_034058.1:g.12770del, NG_034058.1:g.12770dup, NG_034058.1:g.12769_12770dup, NG_034058.1:g.12768_12770dup, NG_034058.1:g.12767_12770dup, NG_034058.1:g.12766_12770dup
          5.

          rs1490950551 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            20:25683468 (GRCh38)
            20:25664104 (GRCh37)
            Canonical SPDI:
            NC_000020.11:25683467:G:C
            Gene:
            ZNF337 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.000023/6 (TOPMED)
            HGVS:
            6.

            rs1490241998 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              TG>- [Show Flanks]
              Chromosome:
              20:25692737 (GRCh38)
              20:25673373 (GRCh37)
              Canonical SPDI:
              NC_000020.11:25692736:TG:
              Gene:
              ZNF337 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              -=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490195726 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                20:25691583 (GRCh38)
                20:25672219 (GRCh37)
                Canonical SPDI:
                NC_000020.11:25691582:G:A
                Gene:
                ZNF337 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490183959 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->AG [Show Flanks]
                  Chromosome:
                  20:25684671 (GRCh38)
                  20:25665308 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:25684671:AGAG:AGAGAG
                  Gene:
                  ZNF337 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AGAGAG=0./0 (ALFA)
                  AG=0.000008/2 (TOPMED)
                  AG=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1490169004 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    20:25681483 (GRCh38)
                    20:25662119 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:25681482:A:G
                    Gene:
                    ZNF337 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000071/1 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1490063784 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      20:25674020 (GRCh38)
                      20:25654656 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:25674019:C:T
                      Gene:
                      ZNF337 (Varview), ZNF337-AS1 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490019943 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        20:25686902 (GRCh38)
                        20:25667538 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:25686901:T:C
                        Gene:
                        ZNF337 (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000034/9 (TOPMED)
                        C=0.00005/7 (GnomAD)
                        HGVS:
                        12.

                        rs1489970731 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          20:25684273 (GRCh38)
                          20:25664909 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:25684272:C:T
                          Gene:
                          ZNF337 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1489428958 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            20:25694002 (GRCh38)
                            20:25674638 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:25694001:C:A
                            Gene:
                            ZNF337 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.
                            15.

                            rs1489356382 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              20:25684301 (GRCh38)
                              20:25664937 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:25684300:T:A
                              Gene:
                              ZNF337 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              A=0.00046/8 (TOMMO)
                              A=0.000546/1 (Korea1K)
                              A=0.001369/4 (KOREAN)
                              HGVS:
                              16.

                              rs1489023220 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                20:25675494 (GRCh38)
                                20:25656130 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:25675493:C:T
                                Gene:
                                ZNF337 (Varview), ZNF337-AS1 (Varview)
                                Functional Consequence:
                                downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                T=0.00007/2 (TOMMO)
                                HGVS:
                                17.

                                rs1488876044 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  20:25696909 (GRCh38)
                                  20:25677545 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:25696908:A:G
                                  Gene:
                                  ZNF337 (Varview), LOC107985400 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000023/6 (TOPMED)
                                  G=0.000029/4 (GnomAD)
                                  HGVS:
                                  18.

                                  rs1488845087 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    20:25681785 (GRCh38)
                                    20:25662421 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:25681784:A:G
                                    Gene:
                                    ZNF337 (Varview)
                                    Functional Consequence:
                                    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:
                                    19.

                                    rs1488657757 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      20:25698080 (GRCh38)
                                      20:25678716 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:25698079:T:A
                                      Gene:
                                      ZNF337 (Varview), LOC107985400 (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000224/1 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000223/1 (Estonian)
                                      HGVS:
                                      20.

                                      rs1488527960 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ACAGAA>- [Show Flanks]
                                        Chromosome:
                                        20:25689991 (GRCh38)
                                        20:25670627 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:25689988:AAACAGAA:AA
                                        Gene:
                                        ZNF337 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        AA=0.000142/2 (ALFA)
                                        -=0.00003/8 (TOPMED)
                                        HGVS:

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