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Items: 1 to 20 of 8353

1.

rs1491444379 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->T [Show Flanks]
    Chromosome:
    17:18758266 (GRCh38)
    17:18661580 (GRCh37)
    Canonical SPDI:
    NC_000017.11:18758266:T:TT
    Gene:
    FBXW10 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TT=0./0 (ALFA)
    T=0.000008/2 (TOPMED)
    T=0.000011/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1491415413 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      17:18771118 (GRCh38)
      17:18674431 (GRCh37)
      Canonical SPDI:
      NC_000017.11:18771116:ACA:A
      Gene:
      FBXW10 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000084/1 (ALFA)
      -=0.000123/17 (GnomAD)
      -=0.000468/3 (1000Genomes)
      HGVS:
      3.

      rs1491359913 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->G [Show Flanks]
        Chromosome:
        17:18770307 (GRCh38)
        17:18673621 (GRCh37)
        Canonical SPDI:
        NC_000017.11:18770307::G
        Gene:
        FBXW10 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.00028/1 (GnomAD)
        HGVS:
        4.

        rs1491281078 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->G [Show Flanks]
          Chromosome:
          17:18759618 (GRCh38)
          17:18662932 (GRCh37)
          Canonical SPDI:
          NC_000017.11:18759618:G:GG
          Gene:
          FBXW10 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          GG=0./0 (ALFA)
          G=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1491256617 has merged into rs5819658 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
            Chromosome:
            17:18767456 (GRCh38)
            17:18670769 (GRCh37)
            Canonical SPDI:
            NC_000017.11:18767443:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:18767443:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:18767443:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:18767443:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:18767443:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:18767443:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:18767443:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:18767443:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:18767443:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:18767443:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            FBXW10 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAAAA=0./0 (ALFA)
            AAAAA=0.000004/1 (TOPMED)
            -=0.286741/1436 (1000Genomes)
            HGVS:
            6.

            rs1491195626 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GT>- [Show Flanks]
              Chromosome:
              17:18759619 (GRCh38)
              17:18662932 (GRCh37)
              Canonical SPDI:
              NC_000017.11:18759617:TGT:T
              Gene:
              FBXW10 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency
              MAF:
              -=0.00007/2 (TOMMO)
              HGVS:
              7.

              rs1491181014 has merged into rs60946049 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
                Chromosome:
                17:18770319 (GRCh38)
                17:18673632 (GRCh37)
                Canonical SPDI:
                NC_000017.11:18770306:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:18770306:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:18770306:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:18770306:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:18770306:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:18770306:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:18770306:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:18770306:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
                Gene:
                FBXW10 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTTTT=0./0 (ALFA)
                -=0.1232/457 (TWINSUK)
                -=0.1305/503 (ALSPAC)
                -=0.275/11 (GENOME_DK)
                -=0.4836/2422 (1000Genomes)
                HGVS:
                8.

                rs1491022837 has merged into rs5819658 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  17:18767456 (GRCh38)
                  17:18670769 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:18767443:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:18767443:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:18767443:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:18767443:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:18767443:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:18767443:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:18767443:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:18767443:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:18767443:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:18767443:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
                  Gene:
                  FBXW10 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAAAAAA=0./0 (ALFA)
                  AAAAA=0.000004/1 (TOPMED)
                  -=0.286741/1436 (1000Genomes)
                  HGVS:
                  9.

                  rs1490909405 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    G>- [Show Flanks]
                    Chromosome:
                    17:18755003 (GRCh38)
                    17:18658316 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:18755002:G:
                    Gene:
                    FBXW10 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1490878024 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      17:18753863 (GRCh38)
                      17:18657176 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:18753862:C:T
                      Gene:
                      FBXW10 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000022/3 (GnomAD)
                      T=0.000038/10 (TOPMED)
                      HGVS:
                      11.

                      rs1490859370 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        17:18772361 (GRCh38)
                        17:18675674 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:18772360:T:C
                        Gene:
                        FBXW10 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000005/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1490724864 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AAGT>- [Show Flanks]
                          Chromosome:
                          17:18746630 (GRCh38)
                          17:18649943 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:18746626:AGTAAGT:AGT
                          Gene:
                          FBXW10 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          AGT=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1490723187 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            17:18752439 (GRCh38)
                            17:18655752 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:18752438:G:A,NC_000017.11:18752438:G:C
                            Gene:
                            FBXW10 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490530847 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              17:18749455 (GRCh38)
                              17:18652768 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:18749454:G:A,NC_000017.11:18749454:G:C
                              Gene:
                              FBXW10 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              G=0.5/1 (SGDP_PRJ)
                              HGVS:
                              15.

                              rs1490527047 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                17:18777980 (GRCh38)
                                17:18681293 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:18777979:G:A
                                Gene:
                                FBXW10 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000008/2 (TOPMED)
                                A=0.000177/3 (TOMMO)
                                HGVS:
                                16.

                                rs1490349818 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  17:18762016 (GRCh38)
                                  17:18665329 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:18762015:G:A
                                  Gene:
                                  FBXW10 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000019/5 (TOPMED)
                                  A=0.000021/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490293125 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    17:18762839 (GRCh38)
                                    17:18666152 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:18762838:A:C
                                    Gene:
                                    FBXW10 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1490234589 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      17:18747068 (GRCh38)
                                      17:18650381 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:18747067:G:A
                                      Gene:
                                      FBXW10 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000021/3 (GnomAD)
                                      A=0.000034/9 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490182773 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        17:18767841 (GRCh38)
                                        17:18671154 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:18767840:G:T
                                        Gene:
                                        FBXW10 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490065333 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          17:18777656 (GRCh38)
                                          17:18680969 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:18777655:G:T
                                          Gene:
                                          FBXW10 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:

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