ClinVar Miner

List of variants in gene DYRK1A reported as uncertain significance for DYRK1A-related intellectual disability syndrome

Included ClinVar conditions (2):
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Total variants: 66
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HGVS dbSNP
NC_000021.8:g.(?_38791602)_(38888679_?)dup
NC_000021.8:g.(?_38792657)_(38884854_?)dup
NC_000021.8:g.(?_38868400)_(38884854_?)del
NM_001347721.2(DYRK1A):c.1001A>T (p.Asp334Val) rs1601280230
NM_001347721.2(DYRK1A):c.1215G>C (p.Glu405Asp) rs369805539
NM_001347721.2(DYRK1A):c.1229G>C (p.Gly410Ala) rs978604744
NM_001347721.2(DYRK1A):c.1235G>A (p.Arg412His)
NM_001347721.2(DYRK1A):c.1260G>A (p.Val420=) rs139043513
NM_001347721.2(DYRK1A):c.1264A>G (p.Thr422Ala) rs1459549692
NM_001347721.2(DYRK1A):c.127C>T (p.Arg43Cys) rs367984873
NM_001347721.2(DYRK1A):c.1286G>A (p.Arg429His)
NM_001347721.2(DYRK1A):c.128G>A (p.Arg43His) rs750600368
NM_001347721.2(DYRK1A):c.1307C>T (p.Thr436Met)
NM_001347721.2(DYRK1A):c.1380A>G (p.Gln460=)
NM_001347721.2(DYRK1A):c.139A>G (p.Asn47Asp) rs1569354907
NM_001347721.2(DYRK1A):c.1430G>A (p.Gly477Asp) rs1555991030
NM_001347721.2(DYRK1A):c.1510T>A (p.Ser504Thr) rs1447174732
NM_001347721.2(DYRK1A):c.1527A>G (p.Ser509=) rs1569398234
NM_001347721.2(DYRK1A):c.1560G>A (p.Ser520=) rs778482688
NM_001347721.2(DYRK1A):c.1568C>T (p.Thr523Met) rs148756105
NM_001347721.2(DYRK1A):c.1583del (p.His528fs) rs1601319086
NM_001347721.2(DYRK1A):c.1594C>T (p.His532Tyr) rs1555991472
NM_001347721.2(DYRK1A):c.1609G>A (p.Val537Met)
NM_001347721.2(DYRK1A):c.1613A>G (p.Gln538Arg)
NM_001347721.2(DYRK1A):c.1630A>G (p.Thr544Ala) rs759183785
NM_001347721.2(DYRK1A):c.1634A>C (p.His545Pro)
NM_001347721.2(DYRK1A):c.1636A>T (p.Ser546Cys)
NM_001347721.2(DYRK1A):c.1685C>T (p.Thr562Ile) rs746617310
NM_001347721.2(DYRK1A):c.169T>C (p.Ser57Pro) rs1049763
NM_001347721.2(DYRK1A):c.1702G>C (p.Val568Leu) rs771373401
NM_001347721.2(DYRK1A):c.1705A>G (p.Thr569Ala) rs774075762
NM_001347721.2(DYRK1A):c.173A>G (p.Tyr58Cys)
NM_001347721.2(DYRK1A):c.1762G>A (p.Ala588Thr) rs200808105
NM_001347721.2(DYRK1A):c.1778A>T (p.His593Leu)
NM_001347721.2(DYRK1A):c.1783A>G (p.Asn595Asp)
NM_001347721.2(DYRK1A):c.1803_1805CCA[6] (p.His610dup) rs760576043
NM_001347721.2(DYRK1A):c.1803_1805CCA[7] (p.His609_His610dup) rs760576043
NM_001347721.2(DYRK1A):c.1807_1818CACCACCACCAT[1] (p.His607_His610del) rs752377554
NM_001347721.2(DYRK1A):c.1819C>G (p.His607Asp)
NM_001347721.2(DYRK1A):c.1874A>G (p.Asn625Ser) rs370090236
NM_001347721.2(DYRK1A):c.1925G>A (p.Ser642Asn)
NM_001347721.2(DYRK1A):c.1970C>T (p.Ser657Leu)
NM_001347721.2(DYRK1A):c.19A>G (p.Thr7Ala)
NM_001347721.2(DYRK1A):c.2020C>T (p.Arg674Cys) rs201554841
NM_001347721.2(DYRK1A):c.208-28G>A rs552103257
NM_001347721.2(DYRK1A):c.2087A>T (p.Tyr696Phe)
NM_001347721.2(DYRK1A):c.2098C>T (p.Arg700Cys) rs781697806
NM_001347721.2(DYRK1A):c.2128A>G (p.Thr710Ala)
NM_001347721.2(DYRK1A):c.2150C>G (p.Thr717Arg) rs1317673533
NM_001347721.2(DYRK1A):c.2188A>G (p.Met730Val) rs201958918
NM_001347721.2(DYRK1A):c.2188A>T (p.Met730Leu) rs201958918
NM_001347721.2(DYRK1A):c.2216C>T (p.Ser739Phe) rs887440216
NM_001347721.2(DYRK1A):c.2261C>T (p.Ser754Leu)
NM_001347721.2(DYRK1A):c.227T>G (p.Phe76Cys) rs1601219318
NM_001347721.2(DYRK1A):c.363G>C (p.Lys121Asn) rs991834315
NM_001347721.2(DYRK1A):c.376G>A (p.Val126Ile)
NM_001347721.2(DYRK1A):c.380A>G (p.Tyr127Cys)
NM_001347721.2(DYRK1A):c.404A>G (p.Asn135Ser) rs1601230964
NM_001347721.2(DYRK1A):c.407A>G (p.Tyr136Cys)
NM_001347721.2(DYRK1A):c.43G>A (p.Val15Ile)
NM_001347721.2(DYRK1A):c.47G>A (p.Arg16Gln) rs1057175147
NM_001347721.2(DYRK1A):c.493G>A (p.Val165Ile)
NM_001347721.2(DYRK1A):c.587G>A (p.Arg196Gln)
NM_001347721.2(DYRK1A):c.638-3C>T rs779620187
NM_001347721.2(DYRK1A):c.707T>G (p.Leu236Arg) rs797044525
NM_001347721.2(DYRK1A):c.78T>A (p.Ala26=)

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