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Items: 1 to 20 of 4860

1.

rs1491350164 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->T [Show Flanks]
    Chromosome:
    2:241497875 (GRCh38)
    2:242437291 (GRCh37)
    Canonical SPDI:
    NC_000002.12:241497875:T:TT
    Gene:
    STK25 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TT=0.000569/8 (ALFA)
    T=0.000236/33 (GnomAD)
    T=0.000287/76 (TOPMED)
    HGVS:
    2.

    rs1491319585 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TC>- [Show Flanks]
      Chromosome:
      2:241497878 (GRCh38)
      2:242437293 (GRCh37)
      Canonical SPDI:
      NC_000002.12:241497874:CTCTC:CTC
      Gene:
      STK25 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      CTC=0./0 (ALFA)
      HGVS:
      3.

      rs1490893695 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        2:241504884 (GRCh38)
        2:242444299 (GRCh37)
        Canonical SPDI:
        NC_000002.12:241504883:G:C
        Gene:
        STK25 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490823498 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C,G [Show Flanks]
          Chromosome:
          2:241506397 (GRCh38)
          2:242445812 (GRCh37)
          Canonical SPDI:
          NC_000002.12:241506396:A:C,NC_000002.12:241506396:A:G
          Gene:
          STK25 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1490439361 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            2:241498100 (GRCh38)
            2:242437515 (GRCh37)
            Canonical SPDI:
            NC_000002.12:241498099:C:T
            Gene:
            STK25 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000011/3 (TOPMED)
            HGVS:
            6.

            rs1490403858 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              2:241497248 (GRCh38)
              2:242436663 (GRCh37)
              Canonical SPDI:
              NC_000002.12:241497247:G:A
              Gene:
              STK25 (Varview)
              Functional Consequence:
              intron_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1490333280 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                2:241505646 (GRCh38)
                2:242445061 (GRCh37)
                Canonical SPDI:
                NC_000002.12:241505645:A:T
                Gene:
                STK25 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1490096049 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->C [Show Flanks]
                  Chromosome:
                  2:241496602 (GRCh38)
                  2:242436018 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:241496602:C:CC
                  Gene:
                  STK25 (Varview)
                  Functional Consequence:
                  intron_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  CC=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490040288 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    2:241495734 (GRCh38)
                    2:242435149 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:241495733:G:A
                    Gene:
                    STK25 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1489983396 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      2:241510434 (GRCh38)
                      2:242449849 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:241510433:T:G
                      Gene:
                      STK25 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000021/3 (GnomAD)
                      G=0.000034/9 (TOPMED)
                      HGVS:
                      11.

                      rs1489844054 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        2:241504903 (GRCh38)
                        2:242444318 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:241504902:A:C
                        Gene:
                        STK25 (Varview)
                        Functional Consequence:
                        intron_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.

                        rs1489707338 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          2:241505620 (GRCh38)
                          2:242445035 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:241505619:C:G
                          Gene:
                          STK25 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000035/1 (TOMMO)
                          G=0.000342/1 (KOREAN)
                          G=0.000546/1 (Korea1K)
                          HGVS:
                          13.

                          rs1489674887 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            2:241503691 (GRCh38)
                            2:242443106 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:241503690:C:T
                            Gene:
                            STK25 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000029/3 (GnomAD)
                            T=0.000071/2 (TOMMO)
                            HGVS:
                            14.

                            rs1489152077 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              2:241496261 (GRCh38)
                              2:242435676 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:241496260:G:A
                              Gene:
                              STK25 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000011/3 (TOPMED)
                              A=0.000029/4 (GnomAD)
                              HGVS:
                              15.

                              rs1488910871 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                2:241500388 (GRCh38)
                                2:242439803 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:241500387:G:C
                                Gene:
                                STK25 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.00003/8 (TOPMED)
                                G=0.5/1 (SGDP_PRJ)
                                HGVS:
                                16.

                                rs1488799966 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  CT>- [Show Flanks]
                                  Chromosome:
                                  2:241499476 (GRCh38)
                                  2:242438891 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:241499475:CT:
                                  Gene:
                                  STK25 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0./0 (Korea1K)
                                  -=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488524498 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    2:241506699 (GRCh38)
                                    2:242446114 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:241506698:A:G
                                    Gene:
                                    STK25 (Varview)
                                    Functional Consequence:
                                    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:
                                    18.

                                    rs1488217959 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      2:241511297 (GRCh38)
                                      2:242450712 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:241511296:G:A
                                      Gene:
                                      STK25 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1488055406 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,G,T [Show Flanks]
                                        Chromosome:
                                        2:241499093 (GRCh38)
                                        2:242438508 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:241499092:C:A,NC_000002.12:241499092:C:G,NC_000002.12:241499092:C:T
                                        Gene:
                                        STK25 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000002.12:g.241499093C>A, NC_000002.12:g.241499093C>G, NC_000002.12:g.241499093C>T, NC_000002.11:g.242438508C>A, NC_000002.11:g.242438508C>G, NC_000002.11:g.242438508C>T, NM_006374.5:c.667G>T, NM_006374.5:c.667G>C, NM_006374.5:c.667G>A, NM_006374.4:c.667G>T, NM_006374.4:c.667G>C, NM_006374.4:c.667G>A, XM_011510493.4:c.667G>T, XM_011510493.4:c.667G>C, XM_011510493.4:c.667G>A, XM_011510493.3:c.667G>T, XM_011510493.3:c.667G>C, XM_011510493.3:c.667G>A, XM_011510493.2:c.667G>T, XM_011510493.2:c.667G>C, XM_011510493.2:c.667G>A, XM_011510493.1:c.667G>T, XM_011510493.1:c.667G>C, XM_011510493.1:c.667G>A, XM_011510496.4:c.667G>T, XM_011510496.4:c.667G>C, XM_011510496.4:c.667G>A, XM_011510496.3:c.667G>T, XM_011510496.3:c.667G>C, XM_011510496.3:c.667G>A, XM_011510496.2:c.667G>T, XM_011510496.2:c.667G>C, XM_011510496.2:c.667G>A, XM_011510496.1:c.667G>T, XM_011510496.1:c.667G>C, XM_011510496.1:c.667G>A, XM_011510495.3:c.445G>T, XM_011510495.3:c.445G>C, XM_011510495.3:c.445G>A, XM_011510495.2:c.445G>T, XM_011510495.2:c.445G>C, XM_011510495.2:c.445G>A, XM_011510495.1:c.445G>T, XM_011510495.1:c.445G>C, XM_011510495.1:c.445G>A, XM_011510494.3:c.445G>T, XM_011510494.3:c.445G>C, XM_011510494.3:c.445G>A, XM_011510494.2:c.445G>T, XM_011510494.2:c.445G>C, XM_011510494.2:c.445G>A, XM_011510494.1:c.445G>T, XM_011510494.1:c.445G>C, XM_011510494.1:c.445G>A, NM_001271978.2:c.667G>T, NM_001271978.2:c.667G>C, NM_001271978.2:c.667G>A, NM_001271978.1:c.667G>T, NM_001271978.1:c.667G>C, NM_001271978.1:c.667G>A, NM_001271977.2:c.667G>T, NM_001271977.2:c.667G>C, NM_001271977.2:c.667G>A, NM_001271977.1:c.667G>T, NM_001271977.1:c.667G>C, NM_001271977.1:c.667G>A, NM_001282306.2:c.445G>T, NM_001282306.2:c.445G>C, NM_001282306.2:c.445G>A, NM_001282306.1:c.445G>T, NM_001282306.1:c.445G>C, NM_001282306.1:c.445G>A, NM_001282307.2:c.385G>T, NM_001282307.2:c.385G>C, NM_001282307.2:c.385G>A, NM_001282307.1:c.385G>T, NM_001282307.1:c.385G>C, NM_001282307.1:c.385G>A, XM_017003170.2:c.445G>T, XM_017003170.2:c.445G>C, XM_017003170.2:c.445G>A, XM_017003170.1:c.445G>T, XM_017003170.1:c.445G>C, XM_017003170.1:c.445G>A, NM_001282308.2:c.385G>T, NM_001282308.2:c.385G>C, NM_001282308.2:c.385G>A, NM_001282308.1:c.385G>T, NM_001282308.1:c.385G>C, NM_001282308.1:c.385G>A, NM_001271979.2:c.436G>T, NM_001271979.2:c.436G>C, NM_001271979.2:c.436G>A, NM_001271979.1:c.436G>T, NM_001271979.1:c.436G>C, NM_001271979.1:c.436G>A, NM_001271980.2:c.436G>T, NM_001271980.2:c.436G>C, NM_001271980.2:c.436G>A, NM_001271980.1:c.436G>T, NM_001271980.1:c.436G>C, NM_001271980.1:c.436G>A, XM_047442925.1:c.445G>T, XM_047442925.1:c.445G>C, XM_047442925.1:c.445G>A, NR_073530.1:n.987G>T, NR_073530.1:n.987G>C, NR_073530.1:n.987G>A, NM_001282305.1:c.385G>T, NM_001282305.1:c.385G>C, NM_001282305.1:c.385G>A, NR_073531.1:n.970G>T, NR_073531.1:n.970G>C, NR_073531.1:n.970G>A, NR_073532.1:n.890G>T, NR_073532.1:n.890G>C, NR_073532.1:n.890G>A, NR_073533.1:n.828G>T, NR_073533.1:n.828G>C, NR_073533.1:n.828G>A, XM_047442924.1:c.667G>T, XM_047442924.1:c.667G>C, XM_047442924.1:c.667G>A, NP_006365.2:p.Val223Phe, NP_006365.2:p.Val223Leu, NP_006365.2:p.Val223Ile, XP_011508795.1:p.Val223Phe, XP_011508795.1:p.Val223Leu, XP_011508795.1:p.Val223Ile, XP_011508798.1:p.Val223Phe, XP_011508798.1:p.Val223Leu, XP_011508798.1:p.Val223Ile, XP_011508797.1:p.Val149Phe, XP_011508797.1:p.Val149Leu, XP_011508797.1:p.Val149Ile, XP_011508796.1:p.Val149Phe, XP_011508796.1:p.Val149Leu, XP_011508796.1:p.Val149Ile, NP_001258907.1:p.Val223Phe, NP_001258907.1:p.Val223Leu, NP_001258907.1:p.Val223Ile, NP_001258906.1:p.Val223Phe, NP_001258906.1:p.Val223Leu, NP_001258906.1:p.Val223Ile, NP_001269235.1:p.Val149Phe, NP_001269235.1:p.Val149Leu, NP_001269235.1:p.Val149Ile, NP_001269236.1:p.Val129Phe, NP_001269236.1:p.Val129Leu, NP_001269236.1:p.Val129Ile, XP_016858659.1:p.Val149Phe, XP_016858659.1:p.Val149Leu, XP_016858659.1:p.Val149Ile, NP_001269237.1:p.Val129Phe, NP_001269237.1:p.Val129Leu, NP_001269237.1:p.Val129Ile, NP_001258908.1:p.Val146Phe, NP_001258908.1:p.Val146Leu, NP_001258908.1:p.Val146Ile, NP_001258909.1:p.Val146Phe, NP_001258909.1:p.Val146Leu, NP_001258909.1:p.Val146Ile, XP_047298881.1:p.Val149Phe, XP_047298881.1:p.Val149Leu, XP_047298881.1:p.Val149Ile, NP_001269234.1:p.Val129Phe, NP_001269234.1:p.Val129Leu, NP_001269234.1:p.Val129Ile, XP_047298880.1:p.Val223Phe, XP_047298880.1:p.Val223Leu, XP_047298880.1:p.Val223Ile
                                        20.

                                        rs1487918271 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          2:241501002 (GRCh38)
                                          2:242440417 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:241501001:A:C
                                          Gene:
                                          STK25 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:

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