ClinVar Miner

List of variants in gene DYRK1A reported as pathogenic by GeneDx

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001347721.2(DYRK1A):c.1008G>A (p.Trp336Ter) rs1555985642
NM_001347721.2(DYRK1A):c.1069G>T (p.Glu357Ter) rs1555985742
NM_001347721.2(DYRK1A):c.1071_1071+8del rs886041765
NM_001347721.2(DYRK1A):c.1098del (p.Val367fs) rs886039652
NM_001347721.2(DYRK1A):c.1190_1193del (p.Lys397fs) rs2148627802
NM_001347721.2(DYRK1A):c.1221del (p.Lys407fs) rs1064794006
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter) rs724159953
NM_001347721.2(DYRK1A):c.1343_1346dup (p.Arg449fs) rs1601316350
NM_001347721.2(DYRK1A):c.1351_1354del (p.Leu451fs) rs886041993
NM_001347721.2(DYRK1A):c.1357dup (p.Tyr453fs) rs1131691661
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.143dup (p.Ser49fs) rs1555977071
NM_001347721.2(DYRK1A):c.1445_1446delinsTCTACA (p.Asn482fs) rs1064796713
NM_001347721.2(DYRK1A):c.1519+1G>A rs1064796316
NM_001347721.2(DYRK1A):c.151C>T (p.Gln51Ter) rs1555977077
NM_001347721.2(DYRK1A):c.187C>T (p.Gln63Ter) rs373178770
NM_001347721.2(DYRK1A):c.220dup (p.Gln74fs) rs1555979106
NM_001347721.2(DYRK1A):c.250_251del (p.Leu84fs) rs2148571595
NM_001347721.2(DYRK1A):c.263_264del (p.Ser88fs) rs1064793546
NM_001347721.2(DYRK1A):c.285C>A (p.Tyr95Ter) rs797044519
NM_001347721.2(DYRK1A):c.317del (p.Lys106fs) rs1555980192
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter) rs1057518204
NM_001347721.2(DYRK1A):c.331C>T (p.Gln111Ter) rs1555980223
NM_001347721.2(DYRK1A):c.341del (p.Gln114fs) rs886041833
NM_001347721.2(DYRK1A):c.490-1G>A rs1064796939
NM_001347721.2(DYRK1A):c.508_513del (p.Arg170_Val171del) rs1064795563
NM_001347721.2(DYRK1A):c.542_545del (p.Ile181fs) rs1555982601
NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs) rs1064796367
NM_001347721.2(DYRK1A):c.550_552delinsTTCTT (p.Lys184fs) rs1057518580
NM_001347721.2(DYRK1A):c.574C>T (p.Gln192Ter) rs1555982630
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) rs724159949
NM_001347721.2(DYRK1A):c.606dup (p.Lys203fs) rs1601253237
NM_001347721.2(DYRK1A):c.630C>A (p.Tyr210Ter) rs746177928
NM_001347721.2(DYRK1A):c.638-2A>G rs1057518474
NM_001347721.2(DYRK1A):c.638-9_638-5del
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter) rs780441716
NM_001347721.2(DYRK1A):c.678_680delinsAC (p.Cys226_Leu227delinsTer) rs1131691946
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.748_749del (p.Leu250fs) rs2148612654
NM_001347721.2(DYRK1A):c.760C>T (p.Arg254Ter) rs886041291
NM_001347721.2(DYRK1A):c.765_767del (p.Lys255_Phe256delinsAsn) rs1555984238
NM_001347721.2(DYRK1A):c.814dup (p.Leu272fs) rs1601269091
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg) rs2148612918
NM_001347721.2(DYRK1A):c.856C>T (p.Leu286Phe) rs797044526
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001347721.2(DYRK1A):c.940C>T (p.Gln314Ter) rs1555985532
NM_001347721.2(DYRK1A):c.947G>A (p.Arg316His) rs1064796923
NM_001347721.2(DYRK1A):c.986_993del (p.Tyr329fs) rs886041778
NM_001347721.2(DYRK1A):c.987T>G (p.Tyr329Ter) rs886041658

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