ClinVar Miner

List of variants in gene DYRK1A reported as pathogenic by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001347721.2(DYRK1A):c.300+846A>G rs2148574292
NM_001347721.2(DYRK1A):c.675_676del (p.Cys226fs) rs1601267617
NM_001347721.2(DYRK1A):c.772C>T (p.Gln258Ter) rs1555984245

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