List of variants in gene PAH reported as pathogenic by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)	rs5030857	0.00056
NM_000277.3(PAH):c.1315+1G>A	rs5030861	0.00040
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)	rs62508698	0.00009

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