ClinVar Miner

List of variants reported as likely pathogenic for Phenylketonuria by Illumina Laboratory Services, Illumina

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000277.3(PAH):c.506G>A (p.Arg169His)	rs199475679	0.00020
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser)	rs62517163
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)	rs62508692

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