ClinVar Miner

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

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Total variants: 10
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HGVS dbSNP
NM_001347721.2(DYRK1A):c.425dup (p.Asn142fs) rs797044523
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter) rs780441716
NM_001396.4(DYRK1A):c.1030dup (p.Met344fs) rs1555985620
NM_001396.4(DYRK1A):c.1035G>A (p.Trp345Ter) rs1555985642
NM_001396.4(DYRK1A):c.1266del (p.Lys422fs) rs1555990751
NM_001396.4(DYRK1A):c.1302dup (p.Gly435fs) rs1555990816
NM_001396.4(DYRK1A):c.349C>T (p.Arg117Ter) rs1057518204
NM_001396.4(DYRK1A):c.558_559dup (p.Ile187fs) rs1555982591
NM_001396.4(DYRK1A):c.685_686del (p.Met229fs) rs1555984102
NM_001396.4(DYRK1A):c.830del (p.Ala277fs) rs1555984304

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