List of variants reported as pathogenic for Phenylketonuria by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	rs5030849	0.00022
NM_000277.3(PAH):c.472C>T (p.Arg158Trp)	rs75166491	0.00004
NM_000277.3(PAH):c.842+1G>A	rs5030852	0.00004
NM_000277.3(PAH):c.169-2A>G	rs1226613045	0.00001
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del)	rs62508727
NM_000277.3(PAH):c.804C>A (p.Tyr268Ter)	rs748337823

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