ClinVar Miner

List of variants in gene PAH reported as pathogenic for Mild hyperphenylalaninemia

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)
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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)	rs5030856	0.00008

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