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

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)	rs398123292	0.00006
NM_000277.3(PAH):c.1108del (p.Glu370fs)	rs2499614176
NM_000277.3(PAH):c.478C>T (p.Gln160Ter)	rs2499636931
NM_000277.3(PAH):c.800dup (p.Tyr268fs)

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