List of variants reported as likely pathogenic for Phenylketonuria by Revvity Omics, Revvity

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.261C>A (p.Ser87Arg)	rs62516151	0.00004
NM_000277.3(PAH):c.157C>T (p.Arg53Cys)	rs199475619	0.00003
NM_000277.3(PAH):c.665A>G (p.Asp222Gly)	rs62507319	0.00001
NM_000277.3(PAH):c.941C>A (p.Pro314His)	rs62642940	0.00001
NM_000277.3(PAH):c.350_351del (p.Thr117fs)
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)	rs398123292
NM_000277.3(PAH):c.441+6T>A	rs199475698
NM_000277.3(PAH):c.946G>T (p.Glu316Ter)

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