ClinVar Miner

List of variants in gene PAH reported as pathogenic by OMIM

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Total variants: 63
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HGVS dbSNP
NM_000277.1(PAH):c.-4165_-407del3759
NM_000277.1(PAH):c.1045T>C (p.Ser349Pro) rs62508646
NM_000277.1(PAH):c.117C>G (p.Phe39Leu) rs62642926
NM_000277.1(PAH):c.136G>A (p.Gly46Ser) rs74603784
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.838G>A (p.Glu280Lys) rs62508698
NM_000277.1(PAH):c.896T>G (p.Phe299Cys) rs62642933
NM_000277.1(PAH):c.913_1199del (p.Ile306Leufs)
NM_000277.2(PAH):c.1066-3C>T rs62507344
NM_000277.2(PAH):c.1076C>G (p.Ser359Ter) rs5030854
NM_000277.2(PAH):c.1092_1094del (p.Leu365del) rs62516096
NM_000277.2(PAH):c.1092_1106del (p.Leu365_Leu369del) rs62516097
NM_000277.2(PAH):c.1129delT (p.Tyr377Thrfs) rs62642941
NM_000277.2(PAH):c.1220C>T (p.Pro407Leu) rs62644473
NM_000277.2(PAH):c.140C>T (p.Ala47Val) rs118203925
NM_000277.2(PAH):c.143T>C (p.Leu48Ser) rs5030841
NM_000277.2(PAH):c.165delT (p.Phe55Leufs) rs199475566
NM_000277.2(PAH):c.227A>G (p.Glu76Gly) rs62507347
NM_000277.2(PAH):c.261C>A (p.Ser87Arg) rs62516151
NM_000277.2(PAH):c.284_286delTCA (p.Ile95del) rs62508727
NM_000277.2(PAH):c.3G>A (p.Met1Ile) rs62514893
NM_000277.2(PAH):c.662A>G (p.Glu221Gly) rs62514934
NM_000277.2(PAH):c.731C>T (p.Pro244Leu) rs118203923
NM_000277.2(PAH):c.764T>C (p.Leu255Ser) rs62642930
NM_000277.2(PAH):c.776C>T (p.Ala259Val) rs118203921
NM_000277.2(PAH):c.842+2T>A rs62514955
NM_000277.2(PAH):c.932T>C (p.Leu311Pro) rs62642936
NM_000277.2(PAH):c.965C>G (p.Ala322Gly) rs62514958
NM_000277.2(PAH):c.977G>A (p.Trp326Ter) rs62514959
NM_000277.2(PAH):c.997C>T (p.Leu333Phe) rs62516060
NM_000277.3(PAH):c.1065+3A>G rs62508689
NM_000277.3(PAH):c.1066-11G>A rs5030855
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter) rs62516095
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1162G>A (p.Val388Met) rs62516101
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856
NM_000277.3(PAH):c.1197A>T (p.Val399=) rs199475584
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) rs5030859
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro) rs79931499
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.1A>G (p.Met1Val) rs62514891
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167
NM_000277.3(PAH):c.331C>T (p.Arg111Ter) rs76296470
NM_000277.3(PAH):c.442-1G>A rs62514907
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) rs5030850
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000277.3(PAH):c.814G>T (p.Gly272Ter) rs62514952
NM_000277.3(PAH):c.818C>T (p.Ser273Phe) rs62514953
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp) rs78655458
NM_000277.3(PAH):c.842+1G>A rs5030852
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934
PAH, SER349ARG

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