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Items: 1 to 20 of 5004

1.

rs1491555581 has merged into rs34279043 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAA [Show Flanks]
    Chromosome:
    2:73766321 (GRCh38)
    2:73993448 (GRCh37)
    Canonical SPDI:
    NC_000002.12:73766309:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:73766309:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:73766309:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:73766309:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:73766309:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:73766309:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:73766309:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:73766309:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
    Gene:
    DUSP11 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAA=0./0 (ALFA)
    -=0.0022/5 (1000Genomes)
    A=0.3628/209 (NorthernSweden)
    A=0.475/19 (GENOME_DK)
    HGVS:
    NC_000002.12:g.73766321_73766323del, NC_000002.12:g.73766322_73766323del, NC_000002.12:g.73766323del, NC_000002.12:g.73766323dup, NC_000002.12:g.73766322_73766323dup, NC_000002.12:g.73766321_73766323dup, NC_000002.12:g.73766320_73766323dup, NC_000002.12:g.73766316_73766323dup, NC_000002.11:g.73993448_73993450del, NC_000002.11:g.73993449_73993450del, NC_000002.11:g.73993450del, NC_000002.11:g.73993450dup, NC_000002.11:g.73993449_73993450dup, NC_000002.11:g.73993448_73993450dup, NC_000002.11:g.73993447_73993450dup, NC_000002.11:g.73993443_73993450dup, NW_025791766.1:g.435819_435821del, NW_025791766.1:g.435820_435821del, NW_025791766.1:g.435821del, NW_025791766.1:g.435821dup, NW_025791766.1:g.435820_435821dup, NW_025791766.1:g.435819_435821dup, NW_025791766.1:g.435818_435821dup, NW_025791766.1:g.435814_435821dup
    2.

    rs1491322174 has merged into rs1166863408 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      2:73775885 (GRCh38)
      2:74003012 (GRCh37)
      Canonical SPDI:
      NC_000002.12:73775864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:73775864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73775864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73775864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73775864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73775864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73775864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73775864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73775864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73775864:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      DUSP11 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
      HGVS:
      NC_000002.12:g.73775885_73775888del, NC_000002.12:g.73775886_73775888del, NC_000002.12:g.73775887_73775888del, NC_000002.12:g.73775888del, NC_000002.12:g.73775888dup, NC_000002.12:g.73775887_73775888dup, NC_000002.12:g.73775886_73775888dup, NC_000002.12:g.73775882_73775888dup, NC_000002.12:g.73775878_73775888dup, NC_000002.12:g.73775876_73775888dup, NC_000002.11:g.74003012_74003015del, NC_000002.11:g.74003013_74003015del, NC_000002.11:g.74003014_74003015del, NC_000002.11:g.74003015del, NC_000002.11:g.74003015dup, NC_000002.11:g.74003014_74003015dup, NC_000002.11:g.74003013_74003015dup, NC_000002.11:g.74003009_74003015dup, NC_000002.11:g.74003005_74003015dup, NC_000002.11:g.74003003_74003015dup, NW_025791766.1:g.445383_445386del, NW_025791766.1:g.445384_445386del, NW_025791766.1:g.445385_445386del, NW_025791766.1:g.445386del, NW_025791766.1:g.445386dup, NW_025791766.1:g.445385_445386dup, NW_025791766.1:g.445384_445386dup, NW_025791766.1:g.445380_445386dup, NW_025791766.1:g.445376_445386dup, NW_025791766.1:g.445374_445386dup
      3.

      rs1491274890 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        2:73766309 (GRCh38)
        2:73993436 (GRCh37)
        Canonical SPDI:
        NC_000002.12:73766308:CA:
        Gene:
        DUSP11 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:
        4.

        rs1491173833 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          TA>- [Show Flanks]
          Chromosome:
          2:73775864 (GRCh38)
          2:74002991 (GRCh37)
          Canonical SPDI:
          NC_000002.12:73775863:TA:
          Gene:
          DUSP11 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.03692/438 (ALFA)
          -=0.00876/127 (TOMMO)
          -=0.04387/4138 (GnomAD)
          HGVS:
          5.

          rs1491026858 has merged into rs70965758 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAA>-,A,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            2:73776424 (GRCh38)
            2:74003551 (GRCh37)
            Canonical SPDI:
            NC_000002.12:73776413:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:73776413:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:73776413:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:73776413:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:73776413:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:73776413:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:73776413:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73776413:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73776413:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73776413:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73776413:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73776413:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73776413:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73776413:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            DUSP11 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAA=0./0 (ALFA)
            HGVS:
            NC_000002.12:g.73776424_73776432del, NC_000002.12:g.73776425_73776432del, NC_000002.12:g.73776429_73776432del, NC_000002.12:g.73776431_73776432del, NC_000002.12:g.73776432del, NC_000002.12:g.73776432dup, NC_000002.12:g.73776431_73776432dup, NC_000002.12:g.73776430_73776432dup, NC_000002.12:g.73776429_73776432dup, NC_000002.12:g.73776428_73776432dup, NC_000002.12:g.73776427_73776432dup, NC_000002.12:g.73776426_73776432dup, NC_000002.12:g.73776425_73776432dup, NC_000002.12:g.73776423_73776432dup, NC_000002.11:g.74003551_74003559del, NC_000002.11:g.74003552_74003559del, NC_000002.11:g.74003556_74003559del, NC_000002.11:g.74003558_74003559del, NC_000002.11:g.74003559del, NC_000002.11:g.74003559dup, NC_000002.11:g.74003558_74003559dup, NC_000002.11:g.74003557_74003559dup, NC_000002.11:g.74003556_74003559dup, NC_000002.11:g.74003555_74003559dup, NC_000002.11:g.74003554_74003559dup, NC_000002.11:g.74003553_74003559dup, NC_000002.11:g.74003552_74003559dup, NC_000002.11:g.74003550_74003559dup, NW_025791766.1:g.445922_445930del, NW_025791766.1:g.445923_445930del, NW_025791766.1:g.445927_445930del, NW_025791766.1:g.445929_445930del, NW_025791766.1:g.445930del, NW_025791766.1:g.445930dup, NW_025791766.1:g.445929_445930dup, NW_025791766.1:g.445928_445930dup, NW_025791766.1:g.445927_445930dup, NW_025791766.1:g.445926_445930dup, NW_025791766.1:g.445925_445930dup, NW_025791766.1:g.445924_445930dup, NW_025791766.1:g.445923_445930dup, NW_025791766.1:g.445921_445930dup
            6.

            rs1490956776 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A,C [Show Flanks]
              Chromosome:
              2:73765094 (GRCh38)
              2:73992221 (GRCh37)
              Canonical SPDI:
              NC_000002.12:73765093:T:A,NC_000002.12:73765093:T:C
              Gene:
              DUSP11 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              HGVS:
              7.

              rs1490704325 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                2:73768969 (GRCh38)
                2:73996096 (GRCh37)
                Canonical SPDI:
                NC_000002.12:73768968:A:C
                Gene:
                DUSP11 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000014/2 (GnomAD)
                C=0.000019/5 (TOPMED)
                HGVS:
                8.

                rs1490683134 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  2:73782128 (GRCh38)
                  2:74009255 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:73782127:A:G
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000011/3 (TOPMED)
                  G=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1490379292 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    2:73770479 (GRCh38)
                    2:73997606 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:73770478:C:A,NC_000002.12:73770478:C:T
                    Gene:
                    DUSP11 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.00032/44 (GnomAD)
                    T=0.000476/126 (TOPMED)
                    HGVS:
                    10.

                    rs1490287525 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      TTA>- [Show Flanks]
                      Chromosome:
                      2:73775863 (GRCh38)
                      2:74002990 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:73775862:TTA:
                      Gene:
                      DUSP11 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0.00219/26 (ALFA)
                      -=0.00043/28 (GnomAD)
                      HGVS:
                      11.

                      rs1490136072 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        2:73764010 (GRCh38)
                        2:73991137 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:73764009:G:A
                        Gene:
                        DUSP11 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000008/2 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1490071358 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          2:73761704 (GRCh38)
                          2:73988831 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:73761703:G:A
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1489905047 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            2:73766840 (GRCh38)
                            2:73993967 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:73766839:C:G,NC_000002.12:73766839:C:T
                            Gene:
                            DUSP11 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            HGVS:
                            14.

                            rs1489696629 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              2:73770886 (GRCh38)
                              2:73998013 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:73770885:A:G
                              Gene:
                              DUSP11 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1489666953 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                2:73770050 (GRCh38)
                                2:73997177 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:73770049:C:T
                                Gene:
                                DUSP11 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                T=0.000021/3 (GnomAD)
                                HGVS:
                                16.

                                rs1489649338 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  2:73762497 (GRCh38)
                                  2:73989624 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:73762496:C:A
                                  Gene:
                                  DUSP11 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000029/4 (GnomAD)
                                  A=0.000042/11 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489485745 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    A>- [Show Flanks]
                                    Chromosome:
                                    2:73773474 (GRCh38)
                                    2:74000601 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:73773473:AA:A
                                    Gene:
                                    DUSP11 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AA=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489413662 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      2:73780305 (GRCh38)
                                      2:74007432 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:73780304:C:G,NC_000002.12:73780304:C:T
                                      Gene:
                                      DUSP11 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      G=0.000021/3 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489407019 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        2:73771637 (GRCh38)
                                        2:73998764 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:73771636:G:A
                                        Gene:
                                        DUSP11 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000092/12 (GnomAD)
                                        A=0.001097/18 (TOMMO)
                                        A=0.001718/11 (1000Genomes)
                                        A=0.01166/34 (KOREAN)
                                        HGVS:
                                        20.

                                        rs1489342173 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          2:73770377 (GRCh38)
                                          2:73997504 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:73770376:T:C
                                          Gene:
                                          DUSP11 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:

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