ClinVar Miner

List of variants in gene DYRK1A reported as likely pathogenic for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 44
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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.1009T>C (p.Ser337Pro) rs724159951
NM_001347721.2(DYRK1A):c.1010C>T (p.Ser337Phe) rs1555985649
NM_001347721.2(DYRK1A):c.1072-1G>A
NM_001347721.2(DYRK1A):c.1072-2A>T rs2053260627
NM_001347721.2(DYRK1A):c.1212_1213insTAA (p.Glu405Ter)
NM_001347721.2(DYRK1A):c.1213-2A>G rs1601315812
NM_001347721.2(DYRK1A):c.1224dup (p.Pro409fs)
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.1736C>A (p.Thr579Asn) rs724159955
NM_001347721.2(DYRK1A):c.1837C>T (p.Gln613Ter)
NM_001347721.2(DYRK1A):c.208dup (p.Arg70fs)
NM_001347721.2(DYRK1A):c.301-2A>C
NM_001347721.2(DYRK1A):c.471del (p.Gly159fs) rs2052612564
NM_001347721.2(DYRK1A):c.476G>T (p.Gly159Val) rs1064796406
NM_001347721.2(DYRK1A):c.490-1G>C
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)
NM_001347721.2(DYRK1A):c.637+2_637+13del
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
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.827A>G (p.His276Arg) rs2148612918
NM_001347721.2(DYRK1A):c.830G>A (p.Cys277Tyr) rs2148612925
NM_001347721.2(DYRK1A):c.840del (p.Lys280fs)
NM_001347721.2(DYRK1A):c.856C>T (p.Leu286Phe) rs797044526
NM_001347721.2(DYRK1A):c.887T>G (p.Ile296Arg) rs2148613074
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.953A>G (p.Tyr318Cys) rs1555985554

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