ClinVar Miner

List of variants in gene PAH reported by New York Genome Center

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000277.3(PAH):c.842+3G>C rs62507324 0.00001
NM_000277.3(PAH):c.1024G>A (p.Ala342Thr) rs62507282
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292

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