ClinVar Miner

List of variants in gene PAH reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 78
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HGVS dbSNP
NM_000277.3(PAH):c.1042C>G (p.Leu348Val) rs62516092
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646
NM_000277.3(PAH):c.1055del (p.Gly352fs) rs62516094
NM_000277.3(PAH):c.1066-11G>A rs5030855
NM_000277.3(PAH):c.1066-3C>T rs62507344
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter) rs62516095
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.113_115TCT[1] (p.Phe39del) rs199475565
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.117C>G (p.Phe39Leu) rs62642926
NM_000277.3(PAH):c.1197A>T (p.Val399=) rs199475584
NM_000277.3(PAH):c.1199G>C (p.Arg400Thr) rs199475658
NM_000277.3(PAH):c.1200-1G>A rs62507322
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.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.1352_1356TAAAG[1] (p.Ter453ProextTer?) rs794727086
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598
NM_000277.3(PAH):c.165del (p.Phe55fs) rs199475566
NM_000277.3(PAH):c.168+5G>C rs62507288
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.204A>T (p.Arg68Ser) rs76394784
NM_000277.3(PAH):c.227A>G (p.Glu76Gly) rs62507347
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr) rs62514902
NM_000277.3(PAH):c.281_283TCA[1] (p.Ile95del) rs62508727
NM_000277.3(PAH):c.311C>A (p.Ala104Asp) rs62642929
NM_000277.3(PAH):c.331C>T (p.Arg111Ter) rs76296470
NM_000277.3(PAH):c.357del (p.Trp120fs) rs794727619
NM_000277.3(PAH):c.43_44CT[2] (p.Leu15_Ser16insTer) rs62642906
NM_000277.3(PAH):c.440C>T (p.Pro147Leu) rs199475694
NM_000277.3(PAH):c.441+1G>A rs62517166
NM_000277.3(PAH):c.441+5G>T rs62507321
NM_000277.3(PAH):c.442-1G>A rs62514907
NM_000277.3(PAH):c.442-5C>G rs62514909
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843
NM_000277.3(PAH):c.503del (p.Tyr168fs) rs199475661
NM_000277.3(PAH):c.508C>G (p.His170Asp) rs199475655
NM_000277.3(PAH):c.526C>T (p.Arg176Ter) rs199475575
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.533A>G (p.Glu178Gly) rs77958223
NM_000277.3(PAH):c.60+5G>T rs62514895
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109
NM_000277.3(PAH):c.648C>G (p.Tyr216Ter) rs62509013
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588
NM_000277.3(PAH):c.733G>C (p.Val245Leu) rs62508694
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000277.3(PAH):c.740G>T (p.Gly247Val) rs199475579
NM_000277.3(PAH):c.745C>T (p.Leu249Phe) rs74503222
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000277.3(PAH):c.755G>A (p.Arg252Gln) rs62644503
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.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.806del (p.Ile269fs) rs62508687
NM_000277.3(PAH):c.809G>A (p.Arg270Lys) rs62514950
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp) rs78655458
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698
NM_000277.3(PAH):c.842+3G>C rs62507324
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851
NM_000277.3(PAH):c.847A>T (p.Ile283Phe) rs62517168
NM_000277.3(PAH):c.890G>A (p.Arg297His) rs62642939
NM_000277.3(PAH):c.896T>G (p.Phe299Cys) rs62642933
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853
NM_000277.3(PAH):c.912+1G>A rs62514956
NM_000277.3(PAH):c.913-7A>G rs62517165
NM_000277.3(PAH):c.926C>T (p.Ala309Val) rs62642935
NM_000277.3(PAH):c.955G>T (p.Glu319Ter) rs398123294
NM_000277.3(PAH):c.970-1G>C
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys) rs62508578

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