ClinVar Miner

List of variants in gene DYRK1A reported as pathogenic for Inborn genetic diseases

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001347721.2(DYRK1A):c.1003dup (p.Met335fs) rs1555985620
NM_001347721.2(DYRK1A):c.1008G>A (p.Trp336Ter) rs1555985642
NM_001347721.2(DYRK1A):c.1218C>G (p.Tyr406Ter)
NM_001347721.2(DYRK1A):c.1239del (p.Lys413fs) rs1555990751
NM_001347721.2(DYRK1A):c.1275dup (p.Gly426fs) rs1555990816
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter) rs724159953
NM_001347721.2(DYRK1A):c.197dup (p.Thr67fs)
NM_001347721.2(DYRK1A):c.262del (p.Ser88fs)
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter) rs1057518204
NM_001347721.2(DYRK1A):c.425dup (p.Asn142fs) rs797044523
NM_001347721.2(DYRK1A):c.489+2T>C rs2052613493
NM_001347721.2(DYRK1A):c.531_532dup (p.Ile178fs) rs1555982591
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) rs724159949
NM_001347721.2(DYRK1A):c.638-1G>T rs2148612254
NM_001347721.2(DYRK1A):c.658_659del (p.Met220fs) rs1555984102
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter) rs780441716
NM_001347721.2(DYRK1A):c.803del (p.Ala268fs) rs1555984304

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