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Items: 1 to 20 of 1000

1.

rs1491443032 has merged into rs1047639171 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    C>-,CC [Show Flanks]
    Chromosome:
    19:58465443 (GRCh38)
    19:58976810 (GRCh37)
    Canonical SPDI:
    NC_000019.10:58465442:CCCCC:CCCC,NC_000019.10:58465442:CCCCC:CCCCCC
    Gene:
    ZNF324 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CCCCCC=0./0 (ALFA)
    HGVS:
    2.

    rs1490627448 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      19:58468281 (GRCh38)
      19:58979648 (GRCh37)
      Canonical SPDI:
      NC_000019.10:58468280:G:C
      Gene:
      ZNF324 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490251408 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        19:58468667 (GRCh38)
        19:58980034 (GRCh37)
        Canonical SPDI:
        NC_000019.10:58468666:C:T
        Gene:
        ZNF324 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1489882508 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          19:58472538 (GRCh38)
          19:58983905 (GRCh37)
          Canonical SPDI:
          NC_000019.10:58472537:A:G
          Gene:
          ZNF324 (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1489623927 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            19:58470698 (GRCh38)
            19:58982065 (GRCh37)
            Canonical SPDI:
            NC_000019.10:58470697:T:C
            Gene:
            ZNF324 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            HGVS:
            7.

            rs1489475813 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              ATGACAGTGGATGCTAAG>- [Show Flanks]
              Chromosome:
              19:58472475 (GRCh38)
              19:58983842 (GRCh37)
              Canonical SPDI:
              NC_000019.10:58472474:ATGACAGTGGATGCTAAG:
              Gene:
              ZNF324 (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              -=0.000007/1 (GnomAD)
              -=0.000106/2 (TOMMO)
              HGVS:
              8.

              rs1488987846 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                19:58467489 (GRCh38)
                19:58978856 (GRCh37)
                Canonical SPDI:
                NC_000019.10:58467488:G:C
                Gene:
                ZNF324 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000057/8 (GnomAD)
                HGVS:
                9.

                rs1488934691 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  19:58469962 (GRCh38)
                  19:58981329 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:58469961:C:G
                  Gene:
                  ZNF324 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0.00007/1 (ALFA)
                  HGVS:
                  10.

                  rs1488279001 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TCCA>- [Show Flanks]
                    Chromosome:
                    19:58472616 (GRCh38)
                    19:58983983 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:58472613:CATCCA:CA
                    Gene:
                    ZNF324 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    CA=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    HGVS:
                    11.

                    rs1488232351 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      19:58469810 (GRCh38)
                      19:58981177 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:58469809:C:T
                      Gene:
                      ZNF324 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      12.

                      rs1487990799 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ATTTTATGT>- [Show Flanks]
                        Chromosome:
                        19:58469070 (GRCh38)
                        19:58980437 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:58469065:ATGTATTTTATGT:ATGT
                        Gene:
                        ZNF324 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        ATGT=0./0 (ALFA)
                        -=0.000036/5 (GnomAD)
                        -=0.000042/11 (TOPMED)
                        HGVS:
                        13.

                        rs1487523888 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          19:58467082 (GRCh38)
                          19:58978449 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:58467081:T:G
                          Gene:
                          ZNF324 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000008/2 (TOPMED)
                          HGVS:
                          14.

                          rs1487512097 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->G [Show Flanks]
                            Chromosome:
                            19:58466256 (GRCh38)
                            19:58977624 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:58466256:G:GG
                            Gene:
                            ZNF324 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            GG=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            15.

                            rs1487298015 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              19:58472330 (GRCh38)
                              19:58983697 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:58472329:A:C
                              Gene:
                              ZNF324 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000019/5 (TOPMED)
                              C=0.000043/6 (GnomAD)
                              HGVS:
                              16.

                              rs1486882318 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                19:58465293 (GRCh38)
                                19:58976660 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:58465292:A:C
                                Gene:
                                ZNF324 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                17.

                                rs1486658090 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  19:58471710 (GRCh38)
                                  19:58983077 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:58471709:C:T
                                  Gene:
                                  ZNF324 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  18.

                                  rs1486513666 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    19:58469758 (GRCh38)
                                    19:58981125 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:58469757:T:A
                                    Gene:
                                    ZNF324 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    HGVS:
                                    19.

                                    rs1486385447 has merged into rs10590748 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
                                      Chromosome:
                                      19:58465104 (GRCh38)
                                      19:58976471 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:58465093:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
                                      Gene:
                                      ZNF324 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TTTTTTTTTT=0./0 (ALFA)
                                      HGVS:
                                      NC_000019.10:g.58465104_58465115del, NC_000019.10:g.58465105_58465115del, NC_000019.10:g.58465106_58465115del, NC_000019.10:g.58465107_58465115del, NC_000019.10:g.58465108_58465115del, NC_000019.10:g.58465109_58465115del, NC_000019.10:g.58465110_58465115del, NC_000019.10:g.58465111_58465115del, NC_000019.10:g.58465112_58465115del, NC_000019.10:g.58465113_58465115del, NC_000019.10:g.58465114_58465115del, NC_000019.10:g.58465115del, NC_000019.10:g.58465115dup, NC_000019.10:g.58465114_58465115dup, NC_000019.10:g.58465113_58465115dup, NC_000019.10:g.58465112_58465115dup, NC_000019.9:g.58976471_58976482del, NC_000019.9:g.58976472_58976482del, NC_000019.9:g.58976473_58976482del, NC_000019.9:g.58976474_58976482del, NC_000019.9:g.58976475_58976482del, NC_000019.9:g.58976476_58976482del, NC_000019.9:g.58976477_58976482del, NC_000019.9:g.58976478_58976482del, NC_000019.9:g.58976479_58976482del, NC_000019.9:g.58976480_58976482del, NC_000019.9:g.58976481_58976482del, NC_000019.9:g.58976482del, NC_000019.9:g.58976482dup, NC_000019.9:g.58976481_58976482dup, NC_000019.9:g.58976480_58976482dup, NC_000019.9:g.58976479_58976482dup
                                      20.

                                      rs1486274018 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        19:58468741 (GRCh38)
                                        19:58980108 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:58468740:C:T
                                        Gene:
                                        ZNF324 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:

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