List of variants reported as pathogenic for Phenylketonuria by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 6

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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.1066-11G>A	rs5030855	0.00028
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)	rs5030860	0.00025
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)	rs5030851	0.00010
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)	rs5030856	0.00008

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