ClinVar Miner

List of variants in gene PAH reported by Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics

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Total variants: 8
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HGVS dbSNP
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841
NM_000277.3(PAH):c.289A>C (p.Ile97Leu) rs142516271
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.707-7A>T rs62508624
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849

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