ClinVar Miner

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

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Total variants: 27
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HGVS dbSNP
NM_000277.3(PAH):c.1066-10_1070del rs1592947582
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe) rs376480977
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu) rs184148104
NM_000277.3(PAH):c.1156T>G (p.Tyr386Asp) rs199475691
NM_000277.3(PAH):c.1187A>G (p.Lys396Arg)
NM_000277.3(PAH):c.1200-1G>A rs62507322
NM_000277.3(PAH):c.1200-8G>A rs62507261
NM_000277.3(PAH):c.121C>T (p.Leu41Phe) rs62642928
NM_000277.3(PAH):c.1282C>T (p.Gln428Ter) rs567261857
NM_000277.3(PAH):c.1339G>A (p.Ala447Thr)
NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?) rs199475641
NM_000277.3(PAH):c.187_190delinsCCCA (p.Thr63_His64delinsProAsn)
NM_000277.3(PAH):c.223G>A (p.Asp75Asn) rs767453024
NM_000277.3(PAH):c.241A>C (p.Thr81Pro) rs62509017
NM_000277.3(PAH):c.283A>T (p.Ile95Phe) rs62508682
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr) rs199475606
NM_000277.3(PAH):c.441+6T>A rs199475698
NM_000277.3(PAH):c.516G>C (p.Gln172His)
NM_000277.3(PAH):c.545A>G (p.Glu182Gly) rs199475617
NM_000277.3(PAH):c.602A>G (p.His201Arg) rs62517180
NM_000277.3(PAH):c.613G>A (p.Glu205Lys) rs63083560
NM_000277.3(PAH):c.620A>G (p.Asn207Ser) rs62508721
NM_000277.3(PAH):c.632C>T (p.Pro211Leu) rs281865443
NM_000277.3(PAH):c.716G>T (p.Gly239Val) rs62507283
NM_000277.3(PAH):c.794G>A (p.Cys265Tyr) rs62507335
NM_000277.3(PAH):c.835C>G (p.Pro279Ala) rs1555204441
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys) rs62508578

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