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Items: 1 to 20 of 300

1.

rs1489975006 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    X:106785078 (GRCh38)
    X:106028308 (GRCh37)
    Canonical SPDI:
    NC_000023.11:106785077:C:T
    Gene:
    RNF128 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0.000169/2 (ALFA)
    T=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1472726226 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      X:106795618 (GRCh38)
      X:106038848 (GRCh37)
      Canonical SPDI:
      NC_000023.11:106795617:G:A
      Gene:
      RNF128 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      A=0.000006/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1467705657 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        X:106790232 (GRCh38)
        X:106033462 (GRCh37)
        Canonical SPDI:
        NC_000023.11:106790231:A:G
        Gene:
        RNF128 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        G=0.000006/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1455464405 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          X:106787985 (GRCh38)
          X:106031215 (GRCh37)
          Canonical SPDI:
          NC_000023.11:106787984:G:A
          Gene:
          RNF128 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.00002/2 (GnomAD)
          A=0.000064/17 (TOPMED)
          HGVS:
          5.

          rs1454708219 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C,G [Show Flanks]
            Chromosome:
            X:106727019 (GRCh38)
            X:105970249 (GRCh37)
            Canonical SPDI:
            NC_000023.11:106727018:T:C,NC_000023.11:106727018:T:G
            Gene:
            RNF128 (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1453471740 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              X:106726979 (GRCh38)
              X:105970209 (GRCh37)
              Canonical SPDI:
              NC_000023.11:106726978:A:G
              Gene:
              RNF128 (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD_exomes)
              G=0.000009/1 (GnomAD)
              HGVS:
              7.

              rs1442632095 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                X:106772913 (GRCh38)
                X:106016143 (GRCh37)
                Canonical SPDI:
                NC_000023.11:106772912:G:A
                Gene:
                RNF128 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000006/1 (GnomAD_exomes)
                A=0.00001/1 (GnomAD)
                A=0.001027/3 (KOREAN)
                HGVS:
                8.

                rs1437591292 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  X:106790187 (GRCh38)
                  X:106033417 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:106790186:C:G
                  Gene:
                  RNF128 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000006/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1435254192 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    X:106791137 (GRCh38)
                    X:106034367 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:106791136:C:T
                    Gene:
                    RNF128 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1433574273 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      X:106795713 (GRCh38)
                      X:106038943 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:106795712:A:T
                      Gene:
                      RNF128 (Varview)
                      Functional Consequence:
                      terminator_codon_variant,stop_lost
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000142/2 (ALFA)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1430204117 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        X:106727204 (GRCh38)
                        X:105970434 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:106727203:C:G
                        Gene:
                        RNF128 (Varview)
                        Functional Consequence:
                        missense_variant,intron_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000006/1 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1429264868 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          X:106791094 (GRCh38)
                          X:106034324 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:106791093:T:C
                          Gene:
                          RNF128 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000006/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1429177343 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            X:106727379 (GRCh38)
                            X:105970609 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:106727378:A:G
                            Gene:
                            RNF128 (Varview)
                            Functional Consequence:
                            missense_variant,intron_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000005/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1423642626 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              X:106727318 (GRCh38)
                              X:105970548 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:106727317:T:C
                              Gene:
                              RNF128 (Varview)
                              Functional Consequence:
                              synonymous_variant,intron_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000008/2 (TOPMED)
                              C=0.00001/1 (GnomAD)
                              HGVS:
                              15.

                              rs1421679234 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                X:106727325 (GRCh38)
                                X:105970555 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:106727324:A:C
                                Gene:
                                RNF128 (Varview)
                                Functional Consequence:
                                synonymous_variant,intron_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                C=0.00001/1 (GnomAD)
                                HGVS:
                                16.

                                rs1409827339 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  X:106795581 (GRCh38)
                                  X:106038811 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:106795580:T:C
                                  Gene:
                                  RNF128 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.00001/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1408877754 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    X:106773096 (GRCh38)
                                    X:106016326 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:106773095:T:C
                                    Gene:
                                    RNF128 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000005/1 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1407183143 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      X:106727108 (GRCh38)
                                      X:105970338 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:106727107:G:A
                                      Gene:
                                      RNF128 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,intron_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.00001/1 (GnomAD)
                                      A=0.000011/3 (TOPMED)
                                      A=0.000012/2 (GnomAD_exomes)
                                      HGVS:
                                      19.

                                      rs1402724556 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        X:106790255 (GRCh38)
                                        X:106033485 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:106790254:T:C
                                        Gene:
                                        RNF128 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000006/1 (GnomAD_exomes)
                                        C=0.00001/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1400356162 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          X:106787948 (GRCh38)
                                          X:106031178 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:106787947:G:A
                                          Gene:
                                          RNF128 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          HGVS:

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