ClinVar Miner

List of variants reported as likely pathogenic for DYRK1A-related intellectual disability syndrome

Included ClinVar conditions (2):
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NC_000021.8:g.(?_38868400)_(38884854_?)del
NC_000021.9:g.(?_37492997)_(37493183_?)del
NM_001347721.2(DYRK1A):c.1000_1001del (p.Asp334fs) rs2148619635
NM_001347721.2(DYRK1A):c.1010C>T (p.Ser337Phe) rs1555985649
NM_001347721.2(DYRK1A):c.1072-1G>A rs2518048062
NM_001347721.2(DYRK1A):c.1072-2A>T rs2053260627
NM_001347721.2(DYRK1A):c.1072del rs2518048064
NM_001347721.2(DYRK1A):c.1212_1213insTAA (p.Glu405Ter) rs2518073461
NM_001347721.2(DYRK1A):c.1213-2A>G rs1601315812
NM_001347721.2(DYRK1A):c.1224dup (p.Pro409fs) rs2518073567
NM_001347721.2(DYRK1A):c.1235G>A (p.Arg412His) rs202011970
NM_001347721.2(DYRK1A):c.1373G>A (p.Arg458Gln) rs797045041
NM_001347721.2(DYRK1A):c.1378del (p.Gln460fs) rs1555990958
NM_001347721.2(DYRK1A):c.1520-1G>C
NM_001347721.2(DYRK1A):c.1736C>A (p.Thr579Asn) rs724159955
NM_001347721.2(DYRK1A):c.1837C>T (p.Gln613Ter) rs1555994836
NM_001347721.2(DYRK1A):c.196_200del (p.Pro65_Leu66insTer) rs2517958077
NM_001347721.2(DYRK1A):c.208dup (p.Arg70fs) rs2517974544
NM_001347721.2(DYRK1A):c.301-2A>C rs2052604858
NM_001347721.2(DYRK1A):c.471del (p.Gly159fs) rs2052612564
NM_001347721.2(DYRK1A):c.475G>C (p.Gly159Arg) rs2517988225
NM_001347721.2(DYRK1A):c.476G>T (p.Gly159Val) rs1064796406
NM_001347721.2(DYRK1A):c.490-1G>C rs1064796939
NM_001347721.2(DYRK1A):c.506A>G (p.Asp169Gly) rs1131691866
NM_001347721.2(DYRK1A):c.536A>T (p.Lys179Ile) rs797044524
NM_001347721.2(DYRK1A):c.536_538del (p.Lys179del) rs2052872878
NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs) rs1064796367
NM_001347721.2(DYRK1A):c.593T>C (p.Leu198Pro) rs2518010357
NM_001347721.2(DYRK1A):c.637+2_637+13del rs2518010515
NM_001347721.2(DYRK1A):c.638-1G>T rs2148612254
NM_001347721.2(DYRK1A):c.638-6T>C rs2148612226
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.707T>G (p.Leu236Arg) rs797044525
NM_001347721.2(DYRK1A):c.764A>C (p.Lys255Thr) rs2518028103
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg) rs2148612918
NM_001347721.2(DYRK1A):c.830G>A (p.Cys277Tyr) rs2148612925
NM_001347721.2(DYRK1A):c.840del (p.Lys280fs) rs2148612955
NM_001347721.2(DYRK1A):c.856C>T (p.Leu286Phe) rs797044526
NM_001347721.2(DYRK1A):c.868A>G (p.Lys290Glu) rs2518028565
NM_001347721.2(DYRK1A):c.895T>G (p.Phe299Val) rs797045540
NM_001347721.2(DYRK1A):c.896T>C (p.Phe299Ser) rs1569376809
NM_001347721.2(DYRK1A):c.924+1G>A rs2148613196
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001347721.2(DYRK1A):c.925-1G>C rs2148619382
NM_001347721.2(DYRK1A):c.931_932del (p.Gln311fs) rs2148619406
NM_001347721.2(DYRK1A):c.945T>A (p.Ser315Arg) rs1569380375
NM_001347721.2(DYRK1A):c.948_949insGG (p.Phe317fs) rs2518037603
NM_001347721.2(DYRK1A):c.953A>G (p.Tyr318Cys) rs1555985554
NM_001347721.2(DYRK1A):c.957_960del (p.Ser320fs)
NM_001347721.2(DYRK1A):c.976_977insTG (p.Gly326fs)

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