ClinVar Miner

List of variants studied for Phenylketonuria by SingHealth Duke-NUS Institute of Precision Medicine

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508 0.00009

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