ClinVar Miner

List of variants in gene PAH reported by Fulgent Genetics

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Total variants: 39
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HGVS dbSNP
NM_000277.1(PAH):c.1033G>T (p.Ala345Ser) rs62516062
NM_000277.1(PAH):c.1042C>G (p.Leu348Val) rs62516092
NM_000277.1(PAH):c.1045T>C (p.Ser349Pro) rs62508646
NM_000277.1(PAH):c.165T>G (p.Phe55Leu) rs199475598
NM_000277.1(PAH):c.283A>T (p.Ile95Phe) rs62508682
NM_000277.1(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.1(PAH):c.611A>G (p.Tyr204Cys) rs62514927
NM_000277.1(PAH):c.728G>A (p.Arg243Gln) rs62508588
NM_000277.1(PAH):c.806T>A (p.Ile269Asn) rs199475644
NM_000277.1(PAH):c.838G>A (p.Glu280Lys) rs62508698
NM_000277.1(PAH):c.896T>G (p.Phe299Cys) rs62642933
NM_000277.2(PAH):c.143T>C (p.Leu48Ser) rs5030841
NM_000277.2(PAH):c.169-2A>G rs1226613045
NM_000277.2(PAH):c.261C>A (p.Ser87Arg) rs62516151
NM_000277.2(PAH):c.890G>A (p.Arg297His) rs62642939
NM_000277.2(PAH):c.913-7A>G rs62517165
NM_000277.3(PAH):c.1066-11G>A rs5030855
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
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.1243G>A (p.Asp415Asn) rs62644499
NM_000277.3(PAH):c.1315+1G>A rs5030861
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000277.3(PAH):c.299A>G (p.His100Arg) rs148393887
NM_000277.3(PAH):c.331C>T (p.Arg111Ter) rs76296470
NM_000277.3(PAH):c.441+5G>T rs62507321
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843
NM_000277.3(PAH):c.526C>T (p.Arg176Ter) rs199475575
NM_000277.3(PAH):c.533A>G (p.Glu178Gly) rs77958223
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000277.3(PAH):c.755G>A (p.Arg252Gln) rs62644503
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp) rs78655458
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934

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