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Items: 1 to 20 of 1000

1.

rs1491325370 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TG>- [Show Flanks]
    Chromosome:
    19:57283526 (GRCh38)
    19:57794894 (GRCh37)
    Canonical SPDI:
    NC_000019.10:57283525:TG:
    Gene:
    ZNF460 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491259878 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      19:57279152 (GRCh38)
      19:57790520 (GRCh37)
      Canonical SPDI:
      NC_000019.10:57279151:CA:
      Gene:
      ZNF460 (Varview), ZNF460-AS1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.00076/9 (ALFA)
      HGVS:
      3.

      rs1491232949 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        19:57286962 (GRCh38)
        19:57798330 (GRCh37)
        Canonical SPDI:
        NC_000019.10:57286961:CA:
        Gene:
        ZNF460 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0.00464/55 (ALFA)
        HGVS:
        4.

        rs1491168074 has merged into rs59993189 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          19:57279164 (GRCh38)
          19:57790532 (GRCh37)
          Canonical SPDI:
          NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          ZNF460 (Varview), ZNF460-AS1 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAA=0./0 (ALFA)
          -=0.3323/1664 (1000Genomes)
          HGVS:
          NC_000019.10:g.57279164_57279176del, NC_000019.10:g.57279167_57279176del, NC_000019.10:g.57279168_57279176del, NC_000019.10:g.57279169_57279176del, NC_000019.10:g.57279170_57279176del, NC_000019.10:g.57279171_57279176del, NC_000019.10:g.57279172_57279176del, NC_000019.10:g.57279173_57279176del, NC_000019.10:g.57279174_57279176del, NC_000019.10:g.57279175_57279176del, NC_000019.10:g.57279176del, NC_000019.10:g.57279176dup, NC_000019.10:g.57279175_57279176dup, NC_000019.10:g.57279174_57279176dup, NC_000019.10:g.57279173_57279176dup, NC_000019.10:g.57279172_57279176dup, NC_000019.10:g.57279171_57279176dup, NC_000019.10:g.57279170_57279176dup, NC_000019.10:g.57279168_57279176dup, NC_000019.10:g.57279176_57279177insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.57279176_57279177insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.57790532_57790544del, NC_000019.9:g.57790535_57790544del, NC_000019.9:g.57790536_57790544del, NC_000019.9:g.57790537_57790544del, NC_000019.9:g.57790538_57790544del, NC_000019.9:g.57790539_57790544del, NC_000019.9:g.57790540_57790544del, NC_000019.9:g.57790541_57790544del, NC_000019.9:g.57790542_57790544del, NC_000019.9:g.57790543_57790544del, NC_000019.9:g.57790544del, NC_000019.9:g.57790544dup, NC_000019.9:g.57790543_57790544dup, NC_000019.9:g.57790542_57790544dup, NC_000019.9:g.57790541_57790544dup, NC_000019.9:g.57790540_57790544dup, NC_000019.9:g.57790539_57790544dup, NC_000019.9:g.57790538_57790544dup, NC_000019.9:g.57790536_57790544dup, NC_000019.9:g.57790544_57790545insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.57790544_57790545insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          5.

          rs1491155428 has merged into rs59796969 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
            Chromosome:
            19:57283157 (GRCh38)
            19:57794525 (GRCh37)
            Canonical SPDI:
            NC_000019.10:57283145:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:57283145:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:57283145:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:57283145:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:57283145:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:57283145:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
            Gene:
            ZNF460 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTTTTTT=0./0 (ALFA)
            -=0.483/2419 (1000Genomes)
            HGVS:
            6.

            rs1490848209 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              A>- [Show Flanks]
              Chromosome:
              19:57286889 (GRCh38)
              19:57798257 (GRCh37)
              Canonical SPDI:
              NC_000019.10:57286888:A:
              Gene:
              ZNF460 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1490473577 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                19:57280063 (GRCh38)
                19:57791431 (GRCh37)
                Canonical SPDI:
                NC_000019.10:57280062:T:G
                Gene:
                ZNF460 (Varview), ZNF460-AS1 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                HGVS:
                8.

                rs1490434684 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  19:57294865 (GRCh38)
                  19:57806233 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:57294864:A:G
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000071/1 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1490270868 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    19:57280829 (GRCh38)
                    19:57792197 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:57280828:C:T
                    Gene:
                    ZNF460 (Varview), ZNF460-AS1 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_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=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1489945794 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      19:57295405 (GRCh38)
                      19:57806773 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:57295404:G:A,NC_000019.10:57295404:G:C
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      C=0.000106/2 (TOMMO)
                      HGVS:
                      11.

                      rs1489935034 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        19:57296224 (GRCh38)
                        19:57807592 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:57296223:C:T
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000015/4 (TOPMED)
                        HGVS:
                        12.

                        rs1489672701 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          G>- [Show Flanks]
                          Chromosome:
                          19:57288383 (GRCh38)
                          19:57799751 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:57288382:GGG:GG
                          Gene:
                          ZNF460 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          GG=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1489613738 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            19:57287256 (GRCh38)
                            19:57798624 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:57287255:G:A
                            Gene:
                            ZNF460 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000049/13 (TOPMED)
                            HGVS:
                            14.

                            rs1489559691 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              19:57281925 (GRCh38)
                              19:57793293 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:57281924:T:G
                              Gene:
                              ZNF460 (Varview), ZNF460-AS1 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1489499179 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GAGA>-,GA [Show Flanks]
                                Chromosome:
                                19:57283006 (GRCh38)
                                19:57794374 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:57283000:AGAGAGAGA:AGAGA,NC_000019.10:57283000:AGAGAGAGA:AGAGAGA
                                Gene:
                                ZNF460 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AGAGAGA=0./0 (ALFA)
                                -=0.000301/42 (GnomAD)
                                -=0.000672/11 (TOMMO)
                                -=0.006667/4 (NorthernSweden)
                                HGVS:
                                16.

                                rs1489485006 [Homo sapiens]
                                  Variant type:
                                  SNV:
                                  Alleles:
                                  T>C
                                  Chromosome:
                                  no mapping
                                  Canonical SPDI:
                                  17.

                                  rs1489340636 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    19:57291498 (GRCh38)
                                    19:57802866 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:57291497:G:A
                                    Gene:
                                    ZNF460 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489252570 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      19:57278861 (GRCh38)
                                      19:57790229 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:57278860:A:G,NC_000019.10:57278860:A:T
                                      Gene:
                                      ZNF460 (Varview), ZNF460-AS1 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      G=0.000043/6 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489040586 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        19:57289498 (GRCh38)
                                        19:57800866 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:57289497:C:T
                                        Gene:
                                        ZNF460 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        T=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1489017245 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          19:57289355 (GRCh38)
                                          19:57800723 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:57289354:A:G
                                          Gene:
                                          ZNF460 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000011/3 (TOPMED)
                                          G=0.000035/1 (TOMMO)
                                          HGVS:

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