ClinVar Miner

List of variants in gene PAH reported by GeneReviews

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000277.3(PAH):c.1066-11G>A rs5030855
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858
NM_000277.3(PAH):c.1315+1G>A rs5030861
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851

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