ClinVar Miner

List of variants in gene DYRK1A reported as pathogenic

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Total variants: 76
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HGVS dbSNP
NC_000021.7:g.37796500_37849000del
NC_000021.8:g.(?_38792657)_(38884854_?)del
NC_000021.9:g.37490210_37490211CT[1]
NM_001347721.2(DYRK1A):c.1069G>T (p.Glu357Ter)
NM_001347721.2(DYRK1A):c.1074_1077del (p.Asp359fs) rs797044522
NM_001347721.2(DYRK1A):c.1098del (p.Val367fs) rs886039652
NM_001347721.2(DYRK1A):c.1205dup (p.Arg404fs) rs724159956
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter) rs724159953
NM_001347721.2(DYRK1A):c.1351_1354del (p.Leu451fs) rs886041993
NM_001347721.2(DYRK1A):c.1372C>T (p.Arg458Ter) rs797044520
NM_001347721.2(DYRK1A):c.1373G>A (p.Arg458Gln) rs797045041
NM_001347721.2(DYRK1A):c.1378C>T (p.Gln460Ter) rs1555990955
NM_001347721.2(DYRK1A):c.151C>T (p.Gln51Ter) rs1555977077
NM_001347721.2(DYRK1A):c.1612C>T (p.Gln538Ter) rs869312708
NM_001347721.2(DYRK1A):c.197_200TAAC[1] (p.Asn68fs) rs1569355102
NM_001347721.2(DYRK1A):c.285C>G (p.Tyr95Ter) rs797044519
NM_001347721.2(DYRK1A):c.334C>T (p.Gln112Ter) rs1555980234
NM_001347721.2(DYRK1A):c.341del (p.Gln114fs) rs886041833
NM_001347721.2(DYRK1A):c.425dup (p.Asn142fs) rs797044523
NM_001347721.2(DYRK1A):c.434del (p.Lys145fs) rs797044521
NM_001347721.2(DYRK1A):c.449dup (p.Tyr150Ter) rs1057516030
NM_001347721.2(DYRK1A):c.507dup (p.Arg170fs) rs1569370887
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) rs724159949
NM_001347721.2(DYRK1A):c.594_597delinsGAA (p.Glu199fs) rs724159950
NM_001347721.2(DYRK1A):c.630C>A (p.Tyr210Ter) rs746177928
NM_001347721.2(DYRK1A):c.637+2T>C rs1569371303
NM_001347721.2(DYRK1A):c.638-9_638-5del rs1555984064
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter) rs780441716
NM_001347721.2(DYRK1A):c.700_702delinsATAGAGGTTGT (p.Tyr234fs) rs886039660
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) rs724159948
NM_001347721.2(DYRK1A):c.760C>T (p.Arg254Ter) rs886041291
NM_001347721.2(DYRK1A):c.817dup (p.Ser273fs) rs724159954
NM_001347721.2(DYRK1A):c.856C>T (p.Leu286Phe) rs797044526
NM_001347721.2(DYRK1A):c.918dup (p.Gln307fs) rs724159952
NM_001347721.2(DYRK1A):c.986_993del (p.Tyr329fs) rs886041778
NM_001347721.2(DYRK1A):c.987T>G (p.Tyr329Ter) rs886041658
NM_001396.3(DYRK1A):c.1098_1098+8delGGTAAATGA rs886041765
NM_001396.4(DYRK1A):c.1030dup (p.Met344fs) rs1555985620
NM_001396.4(DYRK1A):c.1035G>A (p.Trp345Ter) rs1555985642
NM_001396.4(DYRK1A):c.1098+1G>A rs587776930
NM_001396.4(DYRK1A):c.1162dup (p.Ala388fs) rs797045042
NM_001396.4(DYRK1A):c.1248del (p.Lys416fs) rs1064794006
NM_001396.4(DYRK1A):c.1266del (p.Lys422fs) rs1555990751
NM_001396.4(DYRK1A):c.1298_1299insT (p.Pro434fs) rs797045539
NM_001396.4(DYRK1A):c.1302dup (p.Gly435fs) rs1555990816
NM_001396.4(DYRK1A):c.1333dup (p.Thr445fs) rs1555990855
NM_001396.4(DYRK1A):c.1384dup (p.Tyr462fs) rs1131691661
NM_001396.4(DYRK1A):c.143_144del (p.Ile48fs) rs587776929
NM_001396.4(DYRK1A):c.143dup (p.Ser49fs) rs1555977071
NM_001396.4(DYRK1A):c.1472_1473delinsTCTACA (p.Asn491fs) rs1064796713
NM_001396.4(DYRK1A):c.1491del (p.Ala498fs) rs1057519628
NM_001396.4(DYRK1A):c.1546+1G>A rs1064796316
NM_001396.4(DYRK1A):c.187C>T (p.Gln63Ter) rs373178770
NM_001396.4(DYRK1A):c.247dup (p.Gln83fs) rs1555979106
NM_001396.4(DYRK1A):c.290_291del (p.Ser97fs) rs1064793546
NM_001396.4(DYRK1A):c.297_301del (p.Leu100fs) rs1057519402
NM_001396.4(DYRK1A):c.311dup (p.Tyr104Ter) rs1555979158
NM_001396.4(DYRK1A):c.312C>A (p.Tyr104Ter) rs797044519
NM_001396.4(DYRK1A):c.344del (p.Lys115fs) rs1555980192
NM_001396.4(DYRK1A):c.349C>T (p.Arg117Ter) rs1057518204
NM_001396.4(DYRK1A):c.517-1G>A rs1064796939
NM_001396.4(DYRK1A):c.558_559dup (p.Ile187fs) rs1555982591
NM_001396.4(DYRK1A):c.569_572del (p.Ile190fs) rs1555982601
NM_001396.4(DYRK1A):c.572_575del (p.Lys191fs) rs1064796367
NM_001396.4(DYRK1A):c.577_579delinsTTCTT (p.Lys193fs) rs1057518580
NM_001396.4(DYRK1A):c.601C>T (p.Gln201Ter) rs1555982630
NM_001396.4(DYRK1A):c.665-2A>G rs1057518474
NM_001396.4(DYRK1A):c.685_686del (p.Met229fs) rs1555984102
NM_001396.4(DYRK1A):c.705_707delinsAC (p.Cys235_Leu236delinsTer) rs1131691946
NM_001396.4(DYRK1A):c.792_794del (p.Lys264_Phe265delinsAsn) rs1555984238
NM_001396.4(DYRK1A):c.830del (p.Ala277fs) rs1555984304
NM_001396.4(DYRK1A):c.860A>T (p.Asp287Val) rs1555984343
NM_001396.4(DYRK1A):c.932C>T (p.Ser311Phe) rs1039571136
NM_001396.4(DYRK1A):c.937C>T (p.Gln313Ter) rs1555984433
NM_001396.4(DYRK1A):c.951+4_951+7del rs1555984461
NM_001396.4(DYRK1A):c.967C>T (p.Gln323Ter) rs1555985532

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