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Items: 1 to 20 of 168

1.

rs1489406610 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    3:52270734 (GRCh38)
    3:52304750 (GRCh37)
    Canonical SPDI:
    NC_000003.12:52270733:A:C
    Gene:
    WDR82 (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,synonymous_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1489354514 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      3:52259723 (GRCh38)
      3:52293739 (GRCh37)
      Canonical SPDI:
      NC_000003.12:52259722:T:C
      Gene:
      WDR82 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000047/1 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      3.

      rs1488354672 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        3:52260399 (GRCh38)
        3:52294415 (GRCh37)
        Canonical SPDI:
        NC_000003.12:52260398:G:A
        Gene:
        WDR82 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        HGVS:
        4.

        rs1485108673 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          3:52261454 (GRCh38)
          3:52295470 (GRCh37)
          Canonical SPDI:
          NC_000003.12:52261453:C:T
          Gene:
          WDR82 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1481311742 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            3:52278309 (GRCh38)
            3:52312325 (GRCh37)
            Canonical SPDI:
            NC_000003.12:52278308:C:G
            Gene:
            WDR82 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,5_prime_UTR_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1480197570 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              3:52278302 (GRCh38)
              3:52312318 (GRCh37)
              Canonical SPDI:
              NC_000003.12:52278301:G:A,NC_000003.12:52278301:G:C
              Gene:
              WDR82 (Varview)
              Functional Consequence:
              missense_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              HGVS:
              7.

              rs1478883724 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                3:52258595 (GRCh38)
                3:52292611 (GRCh37)
                Canonical SPDI:
                NC_000003.12:52258594:T:C
                Gene:
                WDR82 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                C=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1474284265 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  3:52261473 (GRCh38)
                  3:52295489 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:52261472:C:T
                  Gene:
                  WDR82 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1467481517 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    3:52259240 (GRCh38)
                    3:52293256 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:52259239:T:G
                    Gene:
                    WDR82 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1466009059 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      3:52259778 (GRCh38)
                      3:52293794 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:52259777:G:C
                      Gene:
                      WDR82 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0.000111/1 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1445172734 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        3:52261415 (GRCh38)
                        3:52295431 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:52261414:T:C
                        Gene:
                        WDR82 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1444570946 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          3:52257500 (GRCh38)
                          3:52291516 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:52257499:A:G
                          Gene:
                          WDR82 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1440098715 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            3:52278245 (GRCh38)
                            3:52312261 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:52278244:A:G
                            Gene:
                            WDR82 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
                            HGVS:
                            14.

                            rs1440048734 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              3:52278345 (GRCh38)
                              3:52312361 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:52278344:C:A,NC_000003.12:52278344:C:T
                              Gene:
                              WDR82 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,5_prime_UTR_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              A=0.000035/1 (TOMMO)
                              HGVS:
                              15.

                              rs1439035665 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                3:52259200 (GRCh38)
                                3:52293216 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:52259199:T:C
                                Gene:
                                WDR82 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1438406714 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  3:52260424 (GRCh38)
                                  3:52294440 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:52260423:A:G
                                  Gene:
                                  WDR82 (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=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1434092254 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    3:52259760 (GRCh38)
                                    3:52293776 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:52259759:C:T
                                    Gene:
                                    WDR82 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1427304508 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      3:52278281 (GRCh38)
                                      3:52312297 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:52278280:G:A,NC_000003.12:52278280:G:C
                                      Gene:
                                      WDR82 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      A=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1424345325 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        3:52258597 (GRCh38)
                                        3:52292613 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:52258596:G:A
                                        Gene:
                                        WDR82 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0.000047/1 (ALFA)
                                        A=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1410863093 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          3:52257517 (GRCh38)
                                          3:52291533 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:52257516:G:C
                                          Gene:
                                          WDR82 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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