ClinVar Miner

List of variants reported as pathogenic for Mild non-PKU hyperphenylalanemia

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.965C>G (p.Ala322Gly)	rs62514958	0.00003
NM_000277.3(PAH):c.293T>C (p.Leu98Ser)	rs62517167

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