ClinVar Miner

List of variants studied for Phenylketonuria by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
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.782G>A (p.Arg261Gln) rs5030849 0.00015
NM_000277.1:c.[722delG;c.735G>A]

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