ClinVar Miner

List of variants studied 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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