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Items: 1 to 20 of 9911

1.

rs1491556919 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GA>- [Show Flanks]
    Chromosome:
    19:52939234 (GRCh38)
    19:53442487 (GRCh37)
    Canonical SPDI:
    NC_000019.10:52939232:AGA:A
    Gene:
    ZNF321P (Varview), ZNF816-ZNF321P (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0.000084/1 (ALFA)
    -=0.000155/21 (GnomAD)
    HGVS:
    2.

    rs1491554812 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      ->TCTTTTTTTTTTTTTTT
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1491536082 has merged into rs61012425 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
        Chromosome:
        19:52943239 (GRCh38)
        19:53446492 (GRCh37)
        Canonical SPDI:
        NC_000019.10:52943231:TTTTTTTTTTT:TTTTTTT,NC_000019.10:52943231:TTTTTTTTTTT:TTTTTTTT,NC_000019.10:52943231:TTTTTTTTTTT:TTTTTTTTT,NC_000019.10:52943231:TTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:52943231:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:52943231:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:52943231:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:52943231:TTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:52943231:TTTTTTTTTTT:TTTTTTTTTTTTTTTT
        Gene:
        ZNF321P (Varview), ZNF816-ZNF321P (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTT=0./0 (ALFA)
        HGVS:
        4.

        rs1491457921 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->ATATATATTATATA [Show Flanks]
          Chromosome:
          19:52953515 (GRCh38)
          19:53456769 (GRCh37)
          Canonical SPDI:
          NC_000019.10:52953515:TATATA:TATATAATATATATTATATA
          Gene:
          ZNF816 (Varview), ZNF816-ZNF321P (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          TATATAATATATATTATATA=0./0 (ALFA)
          HGVS:
          5.

          rs1491426738 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->C [Show Flanks]
            Chromosome:
            19:52943232 (GRCh38)
            19:53446486 (GRCh37)
            Canonical SPDI:
            NC_000019.10:52943232::C
            Gene:
            ZNF321P (Varview), ZNF816-ZNF321P (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0./0 (GnomAD)
            HGVS:
            6.

            rs1491387878 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TATA>-,TA [Show Flanks]
              Chromosome:
              19:52953511 (GRCh38)
              19:53456764 (GRCh37)
              Canonical SPDI:
              NC_000019.10:52953506:TATATATA:TATA,NC_000019.10:52953506:TATATATA:TATATA
              Gene:
              ZNF816 (Varview), ZNF816-ZNF321P (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TATATATA=0./0 (ALFA)
              -=0.01464/1289 (GnomAD)
              HGVS:
              7.

              rs1491344208 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                GG>- [Show Flanks]
                Chromosome:
                19:52937131 (GRCh38)
                19:53440384 (GRCh37)
                Canonical SPDI:
                NC_000019.10:52937130:GG:
                Gene:
                ZNF321P (Varview), ZNF816-ZNF321P (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                -=0.00001/1 (GnomAD)
                HGVS:
                8.

                rs1491310778 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AA>- [Show Flanks]
                  Chromosome:
                  19:52941578 (GRCh38)
                  19:53444831 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:52941576:AAA:A
                  Gene:
                  ZNF321P (Varview), ZNF816-ZNF321P (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0.00008/1 (ALFA)
                  HGVS:
                  9.

                  rs1491297397 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    19:52944552 (GRCh38)
                    19:53447805 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:52944551:CA:
                    Gene:
                    ZNF321P (Varview), ZNF816-ZNF321P (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0.00025/3 (ALFA)
                    HGVS:
                    10.

                    rs1491295243 has merged into rs34857158 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
                      Chromosome:
                      19:52941840 (GRCh38)
                      19:53445093 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52941828:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
                      Gene:
                      ZNF321P (Varview), ZNF816-ZNF321P (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTTTTT=0./0 (ALFA)
                      TT=0.1506/754 (1000Genomes)
                      HGVS:
                      NC_000019.10:g.52941840_52941849del, NC_000019.10:g.52941841_52941849del, NC_000019.10:g.52941842_52941849del, NC_000019.10:g.52941843_52941849del, NC_000019.10:g.52941844_52941849del, NC_000019.10:g.52941845_52941849del, NC_000019.10:g.52941846_52941849del, NC_000019.10:g.52941847_52941849del, NC_000019.10:g.52941848_52941849del, NC_000019.10:g.52941849del, NC_000019.10:g.52941849dup, NC_000019.10:g.52941848_52941849dup, NC_000019.10:g.52941847_52941849dup, NC_000019.10:g.52941844_52941849dup, NC_000019.9:g.53445093_53445102del, NC_000019.9:g.53445094_53445102del, NC_000019.9:g.53445095_53445102del, NC_000019.9:g.53445096_53445102del, NC_000019.9:g.53445097_53445102del, NC_000019.9:g.53445098_53445102del, NC_000019.9:g.53445099_53445102del, NC_000019.9:g.53445100_53445102del, NC_000019.9:g.53445101_53445102del, NC_000019.9:g.53445102del, NC_000019.9:g.53445102dup, NC_000019.9:g.53445101_53445102dup, NC_000019.9:g.53445100_53445102dup, NC_000019.9:g.53445097_53445102dup
                      11.

                      rs1491270016 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        TT>- [Show Flanks]
                        Chromosome:
                        19:52951007 (GRCh38)
                        19:53454260 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:52951006:TT:
                        Gene:
                        ZNF816 (Varview), ZNF816-ZNF321P (Varview)
                        Functional Consequence:
                        frameshift_variant,intron_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0.000094/1 (ALFA)
                        -=0.000004/1 (GnomAD_exomes)
                        -=0.000008/1 (ExAC)
                        -=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1491202610 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->AATC [Show Flanks]
                          Chromosome:
                          19:52941577 (GRCh38)
                          19:53444831 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:52941577:AATC:AATCAATC
                          Gene:
                          ZNF321P (Varview), ZNF816-ZNF321P (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          AATCAATC=0./0 (ALFA)
                          AATC=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1491077640 has merged into rs113771653 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAA>-,A,AA,AAAA [Show Flanks]
                            Chromosome:
                            19:52964474 (GRCh38)
                            19:53467727 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:52964470:AAAAAA:AAA,NC_000019.10:52964470:AAAAAA:AAAA,NC_000019.10:52964470:AAAAAA:AAAAA,NC_000019.10:52964470:AAAAAA:AAAAAAA
                            Gene:
                            ZNF816 (Varview), ZNF816-ZNF321P (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAA=0./0 (ALFA)
                            -=0.00328/6 (Korea1K)
                            -=0.01738/291 (TOMMO)
                            HGVS:
                            14.

                            rs1491011886 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CA>- [Show Flanks]
                              Chromosome:
                              19:52934050 (GRCh38)
                              19:53437303 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:52934048:ACA:A
                              Gene:
                              ZNF321P (Varview), ZNF816-ZNF321P (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0.00008/1 (ALFA)
                              HGVS:
                              15.

                              rs1490943120 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                19:52950215 (GRCh38)
                                19:53453468 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:52950214:G:C
                                Gene:
                                ZNF816 (Varview), ZNF816-ZNF321P (Varview)
                                Functional Consequence:
                                synonymous_variant,intron_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490907899 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  19:52931323 (GRCh38)
                                  19:53434576 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:52931322:G:A
                                  Gene:
                                  ZNF321P (Varview), ZNF816-ZNF321P (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0.000084/1 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490885352 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    19:52944752 (GRCh38)
                                    19:53448005 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:52944751:C:T
                                    Gene:
                                    ZNF816-ZNF321P (Varview), LOC124904761 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant,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:
                                    18.

                                    rs1490868132 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      19:52957681 (GRCh38)
                                      19:53460934 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:52957680:A:C
                                      Gene:
                                      ZNF816 (Varview), ZNF816-ZNF321P (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490842840 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        19:52958706 (GRCh38)
                                        19:53461959 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:52958705:C:A
                                        Gene:
                                        ZNF816 (Varview), ZNF816-ZNF321P (Varview)
                                        Functional Consequence:
                                        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:
                                        20.

                                        rs1490718871 has merged into rs1005675486 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TTTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                          Chromosome:
                                          19:52927119 (GRCh38)
                                          19:53430372 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:52927108:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                          Gene:
                                          ZNF321P (Varview), ZNF816-ZNF321P (Varview)
                                          Functional Consequence:
                                          downstream_transcript_variant,500B_downstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TTTTTTTTTT=0./0 (ALFA)
                                          HGVS:
                                          NC_000019.10:g.52927119_52927134del, NC_000019.10:g.52927120_52927134del, NC_000019.10:g.52927122_52927134del, NC_000019.10:g.52927123_52927134del, NC_000019.10:g.52927124_52927134del, NC_000019.10:g.52927125_52927134del, NC_000019.10:g.52927126_52927134del, NC_000019.10:g.52927127_52927134del, NC_000019.10:g.52927128_52927134del, NC_000019.10:g.52927129_52927134del, NC_000019.10:g.52927130_52927134del, NC_000019.10:g.52927131_52927134del, NC_000019.10:g.52927132_52927134del, NC_000019.10:g.52927133_52927134del, NC_000019.10:g.52927134del, NC_000019.10:g.52927134dup, NC_000019.10:g.52927133_52927134dup, NC_000019.10:g.52927132_52927134dup, NC_000019.10:g.52927131_52927134dup, NC_000019.10:g.52927130_52927134dup, NC_000019.10:g.52927129_52927134dup, NC_000019.10:g.52927128_52927134dup, NC_000019.10:g.52927134_52927135insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.53430372_53430387del, NC_000019.9:g.53430373_53430387del, NC_000019.9:g.53430375_53430387del, NC_000019.9:g.53430376_53430387del, NC_000019.9:g.53430377_53430387del, NC_000019.9:g.53430378_53430387del, NC_000019.9:g.53430379_53430387del, NC_000019.9:g.53430380_53430387del, NC_000019.9:g.53430381_53430387del, NC_000019.9:g.53430382_53430387del, NC_000019.9:g.53430383_53430387del, NC_000019.9:g.53430384_53430387del, NC_000019.9:g.53430385_53430387del, NC_000019.9:g.53430386_53430387del, NC_000019.9:g.53430387del, NC_000019.9:g.53430387dup, NC_000019.9:g.53430386_53430387dup, NC_000019.9:g.53430385_53430387dup, NC_000019.9:g.53430384_53430387dup, NC_000019.9:g.53430383_53430387dup, NC_000019.9:g.53430382_53430387dup, NC_000019.9:g.53430381_53430387dup, NC_000019.9:g.53430387_53430388insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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