List of variants reported as pathogenic for Phenylketonuria by Genetics and Molecular Pathology, SA Pathology

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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.1315+1G>A	rs5030861	0.00040
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)	rs5030853	0.00034
NM_000277.3(PAH):c.117C>G (p.Phe39Leu)	rs62642926	0.00009
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)	rs62508646	0.00008
NM_000277.3(PAH):c.60+2del

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