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Items: 1 to 20 of 6469

1.

rs1491494626 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GA>- [Show Flanks]
    Chromosome:
    22:32494128 (GRCh38)
    22:32890115 (GRCh37)
    Canonical SPDI:
    NC_000022.11:32494126:AGA:A
    Gene:
    FBXO7 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000084/1 (ALFA)
    -=0.000035/1 (TOMMO)
    -=0.000094/13 (GnomAD)
    HGVS:
    2.

    rs1491418009 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->C [Show Flanks]
      Chromosome:
      22:32479402 (GRCh38)
      22:32875390 (GRCh37)
      Canonical SPDI:
      NC_000022.11:32479402::C
      Gene:
      FBXO7 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      HGVS:
      3.

      rs1491403653 has merged into rs5845002 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        22:32479407 (GRCh38)
        22:32875394 (GRCh37)
        Canonical SPDI:
        NC_000022.11:32479401:TTTTTTTTTTTTTTT:TTTTT,NC_000022.11:32479401:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:32479401:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:32479401:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:32479401:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:32479401:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:32479401:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:32479401:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:32479401:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:32479401:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:32479401:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        FBXO7 (Varview)
        Functional Consequence:
        intron_variant
        Clinical significance:
        benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTT=0./0 (ALFA)
        HGVS:
        NC_000022.11:g.32479407_32479416del, NC_000022.11:g.32479412_32479416del, NC_000022.11:g.32479413_32479416del, NC_000022.11:g.32479414_32479416del, NC_000022.11:g.32479415_32479416del, NC_000022.11:g.32479416del, NC_000022.11:g.32479416dup, NC_000022.11:g.32479415_32479416dup, NC_000022.11:g.32479408_32479416dup, NC_000022.11:g.32479405_32479416dup, NC_000022.11:g.32479416_32479417insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000022.10:g.32875394_32875403del, NC_000022.10:g.32875399_32875403del, NC_000022.10:g.32875400_32875403del, NC_000022.10:g.32875401_32875403del, NC_000022.10:g.32875402_32875403del, NC_000022.10:g.32875403del, NC_000022.10:g.32875403dup, NC_000022.10:g.32875402_32875403dup, NC_000022.10:g.32875395_32875403dup, NC_000022.10:g.32875392_32875403dup, NC_000022.10:g.32875403_32875404insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016001.2:g.9688_9697del, NG_016001.2:g.9693_9697del, NG_016001.2:g.9694_9697del, NG_016001.2:g.9695_9697del, NG_016001.2:g.9696_9697del, NG_016001.2:g.9697del, NG_016001.2:g.9697dup, NG_016001.2:g.9696_9697dup, NG_016001.2:g.9689_9697dup, NG_016001.2:g.9686_9697dup, NG_016001.2:g.9697_9698insTTTTTTTTTTTTTTTTTTTTTTTTT
        4.

        rs1491398802 has merged into rs913129167 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GT>- [Show Flanks]
          Chromosome:
          22:32498964 (GRCh38)
          22:32894951 (GRCh37)
          Canonical SPDI:
          NC_000022.11:32498962:TGT:T
          Gene:
          FBXO7 (Varview)
          Functional Consequence:
          500B_downstream_variant,downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000498/7 (ALFA)
          -=0.000514/136 (TOPMED)
          -=0.00099/82 (GnomAD)
          HGVS:
          5.

          rs1491163564 has merged into rs369465802 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GGGG>-,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG [Show Flanks]
            Chromosome:
            22:32474326 (GRCh38)
            22:32870313 (GRCh37)
            Canonical SPDI:
            NC_000022.11:32474318:GGGGGGGGGGG:GGGGGGG,NC_000022.11:32474318:GGGGGGGGGGG:GGGGGGGGG,NC_000022.11:32474318:GGGGGGGGGGG:GGGGGGGGGG,NC_000022.11:32474318:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000022.11:32474318:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000022.11:32474318:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000022.11:32474318:GGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000022.11:32474318:GGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000022.11:32474318:GGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000022.11:32474318:GGGGGGGGGGG:GGGGGGGGGGGGGGGGGG
            Gene:
            FBXO7 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GGGGGGGGG=0./0 (ALFA)
            -=0.000019/5 (TOPMED)
            HGVS:
            NC_000022.11:g.32474326_32474329del, NC_000022.11:g.32474328_32474329del, NC_000022.11:g.32474329del, NC_000022.11:g.32474329dup, NC_000022.11:g.32474328_32474329dup, NC_000022.11:g.32474327_32474329dup, NC_000022.11:g.32474326_32474329dup, NC_000022.11:g.32474325_32474329dup, NC_000022.11:g.32474324_32474329dup, NC_000022.11:g.32474323_32474329dup, NC_000022.10:g.32870313_32870316del, NC_000022.10:g.32870315_32870316del, NC_000022.10:g.32870316del, NC_000022.10:g.32870316dup, NC_000022.10:g.32870315_32870316dup, NC_000022.10:g.32870314_32870316dup, NC_000022.10:g.32870313_32870316dup, NC_000022.10:g.32870312_32870316dup, NC_000022.10:g.32870311_32870316dup, NC_000022.10:g.32870310_32870316dup, NG_016001.2:g.4607_4610del, NG_016001.2:g.4609_4610del, NG_016001.2:g.4610del, NG_016001.2:g.4610dup, NG_016001.2:g.4609_4610dup, NG_016001.2:g.4608_4610dup, NG_016001.2:g.4607_4610dup, NG_016001.2:g.4606_4610dup, NG_016001.2:g.4605_4610dup, NG_016001.2:g.4604_4610dup
            6.

            rs1491110712 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->T [Show Flanks]
              Chromosome:
              22:32472868 (GRCh38)
              22:32868856 (GRCh37)
              Canonical SPDI:
              NC_000022.11:32472868::T
              Gene:
              FBXO7 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              HGVS:
              7.

              rs1491066580 has merged into rs145778211 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TA>-,TATA,TATATA [Show Flanks]
                Chromosome:
                22:32491626 (GRCh38)
                22:32887613 (GRCh37)
                Canonical SPDI:
                NC_000022.11:32491620:ATATATA:ATATA,NC_000022.11:32491620:ATATATA:ATATATATA,NC_000022.11:32491620:ATATATA:ATATATATATA
                Gene:
                FBXO7 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                ATATATATA=0./0 (ALFA)
                AT=0.00039/7 (TOMMO)
                AT=0.03705/733 (GnomAD)
                -=0.36062/1806 (1000Genomes)
                HGVS:
                8.

                rs1490914922 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  22:32491449 (GRCh38)
                  22:32887436 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:32491448:G:C
                  Gene:
                  FBXO7 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000224/1 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000223/1 (Estonian)
                  HGVS:
                  9.

                  rs1490620326 [Homo sapiens]
                    Variant type:
                    SNV:
                    Alleles:
                    C>T
                    Chromosome:
                    no mapping
                    Canonical SPDI:
                    10.

                    rs1490324419 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      22:32487507 (GRCh38)
                      22:32883494 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:32487506:T:C
                      Gene:
                      FBXO7 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1490317541 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        T>- [Show Flanks]
                        Chromosome:
                        22:32473355 (GRCh38)
                        22:32869342 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:32473354:T:
                        Gene:
                        FBXO7 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1490289946 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->CGA [Show Flanks]
                          Chromosome:
                          22:32472803 (GRCh38)
                          22:32868791 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:32472803:A:ACGA
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          ACGA=0.001939/23 (ALFA)
                          ACG=0.001993/277 (GnomAD)
                          HGVS:
                          13.

                          rs1490250603 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            22:32496738 (GRCh38)
                            22:32892725 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:32496737:C:T
                            Gene:
                            FBXO7 (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:
                            14.

                            rs1490223014 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CTT>- [Show Flanks]
                              Chromosome:
                              22:32488544 (GRCh38)
                              22:32884531 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:32488539:TCTTCTT:TCTT
                              Gene:
                              FBXO7 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TCTT=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              -=0.000036/5 (GnomAD)
                              HGVS:
                              15.

                              rs1490064755 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                22:32480471 (GRCh38)
                                22:32876458 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:32480470:C:A,NC_000022.11:32480470:C:T
                                Gene:
                                FBXO7 (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:
                                16.

                                rs1490027295 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,G [Show Flanks]
                                  Chromosome:
                                  22:32488223 (GRCh38)
                                  22:32884210 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:32488222:A:C,NC_000022.11:32488222:A:G
                                  Gene:
                                  FBXO7 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489902846 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    22:32480023 (GRCh38)
                                    22:32876010 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:32480022:C:T
                                    Gene:
                                    FBXO7 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000053/14 (TOPMED)
                                    T=0.000086/12 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489130987 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      22:32481964 (GRCh38)
                                      22:32877951 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:32481963:T:C
                                      Gene:
                                      FBXO7 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000008/2 (TOPMED)
                                      C=0.000342/1 (KOREAN)
                                      HGVS:
                                      19.

                                      rs1489103640 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G,T [Show Flanks]
                                        Chromosome:
                                        22:32473471 (GRCh38)
                                        22:32869458 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:32473470:A:G,NC_000022.11:32473470:A:T
                                        Gene:
                                        FBXO7 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        G=0.000106/2 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1489072509 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          22:32476085 (GRCh38)
                                          22:32872072 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:32476084:G:A,NC_000022.11:32476084:G:C
                                          Gene:
                                          FBXO7 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          G=0.5/1 (SGDP_PRJ)
                                          HGVS:

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