ClinVar Miner

List of variants in gene PAH reported as likely pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000277.1(PAH):c.1282C>T (p.Gln428Ter) rs567261857
NM_000277.2(PAH):c.1199+17G>A rs62508613
NM_000277.2(PAH):c.1200-8G>A rs62507261
NM_000277.2(PAH):c.121C>T (p.Leu41Phe) rs62642928
NM_000277.2(PAH):c.441+4A>G rs62508586
NM_000277.2(PAH):c.632C>T (p.Pro211Leu) rs281865443
NM_000277.2(PAH):c.722G>T (p.Arg241Leu) rs62508730
NM_000277.2(PAH):c.835C>G (p.Pro279Ala) rs1555204441
NM_000277.2(PAH):c.974A>G (p.Tyr325Cys) rs62508578

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