ClinVar Miner

List of variants reported as pathogenic for Phenylketonuria by Biochemistry Laboratory of CDMU, Chengde Medical University

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)	rs62508588	0.00001
NM_000277.3(PAH):c.875C>T (p.Pro292Leu)	rs1200240274	0.00001

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