ClinVar Miner

List of variants reported as likely pathogenic for Phenylketonuria by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 3

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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.688G>A (p.Val230Ile)	rs62516152	0.00029
NM_000277.3(PAH):c.1180G>C (p.Asp394His)	rs62516142

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