List of variants reported as pathogenic for Phenylketonuria by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)	rs5030858	0.00092
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)	rs5030857	0.00057
NM_000277.3(PAH):c.1315+1G>A	rs5030861	0.00040
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	rs5030849	0.00022

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