ClinVar Miner

List of variants reported as likely pathogenic for Phenylketonuria by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	rs62642937	0.00036
NM_000277.3(PAH):c.941C>A (p.Pro314His)	rs62642940	0.00001

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