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Items: 1 to 20 of 180

1.

rs1488337708 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    3:196561170 (GRCh38)
    3:196288041 (GRCh37)
    Canonical SPDI:
    NC_000003.12:196561169:C:G,NC_000003.12:196561169:C:T
    Gene:
    WDR53 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,intron_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000003.12:g.196561170C>G, NC_000003.12:g.196561170C>T, NC_000003.11:g.196288041C>G, NC_000003.11:g.196288041C>T, NM_182627.3:c.306G>C, NM_182627.3:c.306G>A, NM_182627.2:c.306G>C, NM_182627.2:c.306G>A, NM_182627.1:c.306G>C, NM_182627.1:c.306G>A, NM_001345918.2:c.306G>C, NM_001345918.2:c.306G>A, NM_001345918.1:c.306G>C, NM_001345918.1:c.306G>A, NM_001345917.2:c.306G>C, NM_001345917.2:c.306G>A, NM_001345917.1:c.306G>C, NM_001345917.1:c.306G>A, NM_001345906.2:c.306G>C, NM_001345906.2:c.306G>A, NM_001345906.1:c.306G>C, NM_001345906.1:c.306G>A, NM_001345910.2:c.306G>C, NM_001345910.2:c.306G>A, NM_001345910.1:c.306G>C, NM_001345910.1:c.306G>A, NM_001345909.2:c.306G>C, NM_001345909.2:c.306G>A, NM_001345909.1:c.306G>C, NM_001345909.1:c.306G>A, NM_001345908.2:c.306G>C, NM_001345908.2:c.306G>A, NM_001345908.1:c.306G>C, NM_001345908.1:c.306G>A, NM_032891.2:c.306G>C, NM_032891.2:c.306G>A, NM_001345907.2:c.306G>C, NM_001345907.2:c.306G>A, NM_001345907.1:c.306G>C, NM_001345907.1:c.306G>A, XM_047448079.1:c.306G>C, XM_047448079.1:c.306G>A, NP_872433.1:p.Leu102Phe, NP_001332847.1:p.Leu102Phe, NP_001332846.1:p.Leu102Phe, NP_001332835.1:p.Leu102Phe, NP_001332839.1:p.Leu102Phe, NP_001332838.1:p.Leu102Phe, NP_001332837.1:p.Leu102Phe, NP_001332836.1:p.Leu102Phe, XP_047304035.1:p.Leu102Phe

    2.

    rs1485504294 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C,G [Show Flanks]
      Chromosome:
      3:196561334 (GRCh38)
      3:196288205 (GRCh37)
      Canonical SPDI:
      NC_000003.12:196561333:A:C,NC_000003.12:196561333:A:G
      Gene:
      WDR53 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      C=0.000637/11 (TOMMO)
      HGVS:
      NC_000003.12:g.196561334A>C, NC_000003.12:g.196561334A>G, NC_000003.11:g.196288205A>C, NC_000003.11:g.196288205A>G, NM_182627.3:c.142T>G, NM_182627.3:c.142T>C, NM_182627.2:c.142T>G, NM_182627.2:c.142T>C, NM_182627.1:c.142T>G, NM_182627.1:c.142T>C, NM_001345918.2:c.142T>G, NM_001345918.2:c.142T>C, NM_001345918.1:c.142T>G, NM_001345918.1:c.142T>C, NM_001345917.2:c.142T>G, NM_001345917.2:c.142T>C, NM_001345917.1:c.142T>G, NM_001345917.1:c.142T>C, NM_001345906.2:c.142T>G, NM_001345906.2:c.142T>C, NM_001345906.1:c.142T>G, NM_001345906.1:c.142T>C, NM_001345910.2:c.142T>G, NM_001345910.2:c.142T>C, NM_001345910.1:c.142T>G, NM_001345910.1:c.142T>C, NM_001345909.2:c.142T>G, NM_001345909.2:c.142T>C, NM_001345909.1:c.142T>G, NM_001345909.1:c.142T>C, NM_001345908.2:c.142T>G, NM_001345908.2:c.142T>C, NM_001345908.1:c.142T>G, NM_001345908.1:c.142T>C, NM_032891.2:c.142T>G, NM_032891.2:c.142T>C, NM_001345907.2:c.142T>G, NM_001345907.2:c.142T>C, NM_001345907.1:c.142T>G, NM_001345907.1:c.142T>C, XM_047448079.1:c.142T>G, XM_047448079.1:c.142T>C, NP_872433.1:p.Phe48Val, NP_872433.1:p.Phe48Leu, NP_001332847.1:p.Phe48Val, NP_001332847.1:p.Phe48Leu, NP_001332846.1:p.Phe48Val, NP_001332846.1:p.Phe48Leu, NP_001332835.1:p.Phe48Val, NP_001332835.1:p.Phe48Leu, NP_001332839.1:p.Phe48Val, NP_001332839.1:p.Phe48Leu, NP_001332838.1:p.Phe48Val, NP_001332838.1:p.Phe48Leu, NP_001332837.1:p.Phe48Val, NP_001332837.1:p.Phe48Leu, NP_001332836.1:p.Phe48Val, NP_001332836.1:p.Phe48Leu, XP_047304035.1:p.Phe48Val, XP_047304035.1:p.Phe48Leu

      3.

      rs1481904221 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        3:196561191 (GRCh38)
        3:196288062 (GRCh37)
        Canonical SPDI:
        NC_000003.12:196561190:T:C
        Gene:
        WDR53 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant,intron_variant
        Validated:
        by frequency,by cluster
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        C=0.000035/1 (TOMMO)
        HGVS:

        4.

        rs1468129900 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          3:196561101 (GRCh38)
          3:196287972 (GRCh37)
          Canonical SPDI:
          NC_000003.12:196561100:G:A,NC_000003.12:196561100:G:C
          Gene:
          WDR53 (Varview)
          Functional Consequence:
          missense_variant,intron_variant,synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          C=0.000008/2 (GnomAD_exomes)
          HGVS:
          NC_000003.12:g.196561101G>A, NC_000003.12:g.196561101G>C, NC_000003.11:g.196287972G>A, NC_000003.11:g.196287972G>C, NM_182627.3:c.375C>T, NM_182627.3:c.375C>G, NM_182627.2:c.375C>T, NM_182627.2:c.375C>G, NM_182627.1:c.375C>T, NM_182627.1:c.375C>G, NM_001345918.2:c.375C>T, NM_001345918.2:c.375C>G, NM_001345918.1:c.375C>T, NM_001345918.1:c.375C>G, NM_001345917.2:c.375C>T, NM_001345917.2:c.375C>G, NM_001345917.1:c.375C>T, NM_001345917.1:c.375C>G, NM_001345906.2:c.375C>T, NM_001345906.2:c.375C>G, NM_001345906.1:c.375C>T, NM_001345906.1:c.375C>G, NM_001345910.2:c.375C>T, NM_001345910.2:c.375C>G, NM_001345910.1:c.375C>T, NM_001345910.1:c.375C>G, NM_001345909.2:c.375C>T, NM_001345909.2:c.375C>G, NM_001345909.1:c.375C>T, NM_001345909.1:c.375C>G, NM_001345908.2:c.375C>T, NM_001345908.2:c.375C>G, NM_001345908.1:c.375C>T, NM_001345908.1:c.375C>G, NM_032891.2:c.375C>T, NM_032891.2:c.375C>G, NM_001345907.2:c.375C>T, NM_001345907.2:c.375C>G, NM_001345907.1:c.375C>T, NM_001345907.1:c.375C>G, XM_047448079.1:c.375C>T, XM_047448079.1:c.375C>G, NP_872433.1:p.Asn125Lys, NP_001332847.1:p.Asn125Lys, NP_001332846.1:p.Asn125Lys, NP_001332835.1:p.Asn125Lys, NP_001332839.1:p.Asn125Lys, NP_001332838.1:p.Asn125Lys, NP_001332837.1:p.Asn125Lys, NP_001332836.1:p.Asn125Lys, XP_047304035.1:p.Asn125Lys

          5.

          rs1465826195 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            3:196561393 (GRCh38)
            3:196288264 (GRCh37)
            Canonical SPDI:
            NC_000003.12:196561392:G:A
            Gene:
            WDR53 (Varview)
            Functional Consequence:
            missense_variant,intron_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.

            rs1465791559 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              3:196561088 (GRCh38)
              3:196287959 (GRCh37)
              Canonical SPDI:
              NC_000003.12:196561087:T:C
              Gene:
              WDR53 (Varview)
              Functional Consequence:
              missense_variant,intron_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:

              7.

              rs1464434134 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                3:196561463 (GRCh38)
                3:196288334 (GRCh37)
                Canonical SPDI:
                NC_000003.12:196561462:A:G
                Gene:
                WDR53 (Varview)
                Functional Consequence:
                missense_variant,intron_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:

                8.

                rs1462692309 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  3:196561339 (GRCh38)
                  3:196288210 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:196561338:G:A
                  Gene:
                  WDR53 (Varview)
                  Functional Consequence:
                  intron_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (TOPMED)
                  G=0.5/1 (SGDP_PRJ)
                  HGVS:

                  9.

                  rs1458197034 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    3:196561219 (GRCh38)
                    3:196288090 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:196561218:G:A
                    Gene:
                    WDR53 (Varview)
                    Functional Consequence:
                    intron_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:

                    10.

                    rs1449007242 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      3:196560954 (GRCh38)
                      3:196287825 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:196560953:C:T
                      Gene:
                      WDR53 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      HGVS:

                      11.

                      rs1448613780 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C,G [Show Flanks]
                        Chromosome:
                        3:196561392 (GRCh38)
                        3:196288263 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:196561391:T:C,NC_000003.12:196561391:T:G
                        Gene:
                        WDR53 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        G=0.000546/1 (Korea1K)
                        HGVS:
                        NC_000003.12:g.196561392T>C, NC_000003.12:g.196561392T>G, NC_000003.11:g.196288263T>C, NC_000003.11:g.196288263T>G, NM_182627.3:c.84A>G, NM_182627.3:c.84A>C, NM_182627.2:c.84A>G, NM_182627.2:c.84A>C, NM_182627.1:c.84A>G, NM_182627.1:c.84A>C, NM_001345918.2:c.84A>G, NM_001345918.2:c.84A>C, NM_001345918.1:c.84A>G, NM_001345918.1:c.84A>C, NM_001345917.2:c.84A>G, NM_001345917.2:c.84A>C, NM_001345917.1:c.84A>G, NM_001345917.1:c.84A>C, NM_001345906.2:c.84A>G, NM_001345906.2:c.84A>C, NM_001345906.1:c.84A>G, NM_001345906.1:c.84A>C, NM_001345910.2:c.84A>G, NM_001345910.2:c.84A>C, NM_001345910.1:c.84A>G, NM_001345910.1:c.84A>C, NM_001345909.2:c.84A>G, NM_001345909.2:c.84A>C, NM_001345909.1:c.84A>G, NM_001345909.1:c.84A>C, NM_001345908.2:c.84A>G, NM_001345908.2:c.84A>C, NM_001345908.1:c.84A>G, NM_001345908.1:c.84A>C, NM_032891.2:c.84A>G, NM_032891.2:c.84A>C, NM_001345907.2:c.84A>G, NM_001345907.2:c.84A>C, NM_001345907.1:c.84A>G, NM_001345907.1:c.84A>C, XM_047448079.1:c.84A>G, XM_047448079.1:c.84A>C

                        12.

                        rs1434804364 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          3:196561433 (GRCh38)
                          3:196288304 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:196561432:A:T
                          Gene:
                          WDR53 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:

                          13.

                          rs1430825705 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            3:196560956 (GRCh38)
                            3:196287827 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:196560955:C:T
                            Gene:
                            WDR53 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,intron_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.00001/2 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1420568536 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              3:196561245 (GRCh38)
                              3:196288116 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:196561244:T:G
                              Gene:
                              WDR53 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000071/1 (ALFA)
                              G=0.000014/2 (GnomAD)
                              G=0.000015/4 (TOPMED)
                              HGVS:

                              15.

                              rs1415647949 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                3:196561298 (GRCh38)
                                3:196288169 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:196561297:A:C
                                Gene:
                                WDR53 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:

                                16.

                                rs1411974795 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  3:196561212 (GRCh38)
                                  3:196288083 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:196561211:G:A
                                  Gene:
                                  WDR53 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000015/4 (TOPMED)
                                  A=0.000032/8 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1411933108 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    3:196561406 (GRCh38)
                                    3:196288277 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:196561405:G:C
                                    Gene:
                                    WDR53 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,intron_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:

                                    18.

                                    rs1408160694 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      3:196561248 (GRCh38)
                                      3:196288119 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:196561247:A:G
                                      Gene:
                                      WDR53 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0.000047/1 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:

                                      19.

                                      rs1406603702 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        3:196561165 (GRCh38)
                                        3:196288036 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:196561164:T:G
                                        Gene:
                                        WDR53 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1403231759 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          3:196561387 (GRCh38)
                                          3:196288258 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:196561386:C:T
                                          Gene:
                                          WDR53 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,intron_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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