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Items: 1 to 20 of 47

1.

rs1489374998 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    22:40953620 (GRCh38)
    22:41349624 (GRCh37)
    Canonical SPDI:
    NC_000022.11:40953619:C:T
    Gene:
    RBX1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1465910648 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      22:40967813 (GRCh38)
      22:41363817 (GRCh37)
      Canonical SPDI:
      NC_000022.11:40967812:C:T
      Gene:
      RBX1 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000012/3 (GnomAD_exomes)
      HGVS:
      3.

      rs1444711209 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        22:40967840 (GRCh38)
        22:41363844 (GRCh37)
        Canonical SPDI:
        NC_000022.11:40967839:A:G
        Gene:
        RBX1 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0.000047/1 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1438650404 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          22:40972485 (GRCh38)
          22:41368489 (GRCh37)
          Canonical SPDI:
          NC_000022.11:40972484:C:T
          Gene:
          RBX1 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000071/1 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          T=0.000007/1 (GnomAD)
          T=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1404244041 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            22:40951431 (GRCh38)
            22:41347435 (GRCh37)
            Canonical SPDI:
            NC_000022.11:40951430:C:A
            Gene:
            RBX1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1397998246 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              22:40967834 (GRCh38)
              22:41363838 (GRCh37)
              Canonical SPDI:
              NC_000022.11:40967833:C:G
              Gene:
              RBX1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (GnomAD_exomes)
              G=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1396037011 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                22:40967858 (GRCh38)
                22:41363862 (GRCh37)
                Canonical SPDI:
                NC_000022.11:40967857:G:A
                Gene:
                RBX1 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1390102491 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  22:40964060 (GRCh38)
                  22:41360064 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:40964059:A:G
                  Gene:
                  RBX1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1368648213 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    22:40967876 (GRCh38)
                    22:41363880 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:40967875:A:G
                    Gene:
                    RBX1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1349859516 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      22:40964111 (GRCh38)
                      22:41360115 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:40964110:C:G
                      Gene:
                      RBX1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1332943521 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        22:40967852 (GRCh38)
                        22:41363856 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:40967851:T:C
                        Gene:
                        RBX1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1273433902 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          22:40951425 (GRCh38)
                          22:41347429 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:40951424:C:T
                          Gene:
                          RBX1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_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=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1264230640 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            22:40953593 (GRCh38)
                            22:41349597 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:40953592:T:C
                            Gene:
                            RBX1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1263532749 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              22:40953562 (GRCh38)
                              22:41349566 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:40953561:C:T
                              Gene:
                              RBX1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1237450416 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                22:40951443 (GRCh38)
                                22:41347447 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:40951442:C:T
                                Gene:
                                RBX1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1233710085 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  22:40951414 (GRCh38)
                                  22:41347418 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:40951413:G:C
                                  Gene:
                                  RBX1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1209264381 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    22:40953572 (GRCh38)
                                    22:41349576 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:40953571:C:T
                                    Gene:
                                    RBX1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1206365530 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ACCAACAGCGGC>- [Show Flanks]
                                      Chromosome:
                                      22:40951435 (GRCh38)
                                      22:41347439 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:40951428:AGCGGCACCAACAGCGGC:AGCGGC
                                      Gene:
                                      RBX1 (Varview)
                                      Functional Consequence:
                                      inframe_deletion,coding_sequence_variant
                                      HGVS:
                                      19.

                                      rs1199647062 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        22:40951449 (GRCh38)
                                        22:41347453 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:40951448:G:C
                                        Gene:
                                        RBX1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs999092908 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          22:40951439 (GRCh38)
                                          22:41347443 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:40951438:A:G
                                          Gene:
                                          RBX1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          HGVS:

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