ClinVar Miner

List of variants in gene PAH reported by GeneDx

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Gene type:
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Total variants: 85
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HGVS dbSNP
NM_000277.1(PAH):c.*19G>T rs372637021
NM_000277.1(PAH):c.1024delG (p.Ala342Hisfs) rs63581460
NM_000277.1(PAH):c.1028A>G (p.Tyr343Cys) rs62507265
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.1049C>A (p.Ser350Tyr) rs62508628
NM_000277.1(PAH):c.1089delG (p.Lys363Asnfs) rs5030654
NM_000277.1(PAH):c.1157A>G (p.Tyr386Cys) rs62516141
NM_000277.1(PAH):c.1162G>C (p.Val388Leu) rs62516101
NM_000277.1(PAH):c.117C>G (p.Phe39Leu) rs62642926
NM_000277.1(PAH):c.1249T>C (p.Tyr417His) rs62644471
NM_000277.1(PAH):c.1340C>A (p.Ala447Asp) rs76542238
NM_000277.1(PAH):c.168+5G>C rs62507288
NM_000277.1(PAH):c.169-13T>G rs62507341
NM_000277.1(PAH):c.212G>A (p.Arg71His) rs62508695
NM_000277.1(PAH):c.283A>T (p.Ile95Phe) rs62508682
NM_000277.1(PAH):c.2T>C (p.Met1Thr) rs62508575
NM_000277.1(PAH):c.385G>T (p.Asp129Tyr) rs199475606
NM_000277.1(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.1(PAH):c.529G>C (p.Val177Leu) rs199475602
NM_000277.1(PAH):c.559T>C (p.Trp187Arg) rs62507272
NM_000277.1(PAH):c.60+5G>T rs62514895
NM_000277.1(PAH):c.611A>G (p.Tyr204Cys) rs62514927
NM_000277.1(PAH):c.612T>G (p.Tyr204Ter) rs62514928
NM_000277.1(PAH):c.637C>T (p.Leu213Phe) rs1131691945
NM_000277.1(PAH):c.728G>A (p.Arg243Gln) rs62508588
NM_000277.1(PAH):c.757G>A (p.Asp253Asn) rs765533320
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.842+5G>A rs62516146
NM_000277.1(PAH):c.896T>G (p.Phe299Cys) rs62642933
NM_000277.1(PAH):c.901C>A (p.Gln301Lys) rs1057520732
NM_000277.1(PAH):c.960G>C (p.Lys320Asn) rs199475615
NM_000277.2(PAH):c.116_118del (p.Phe39del) rs199475565
NM_000277.2(PAH):c.1199+17G>A rs62508613
NM_000277.2(PAH):c.1316-5T>C rs62509020
NM_000277.2(PAH):c.143T>C (p.Leu48Ser) rs5030841
NM_000277.2(PAH):c.165delT (p.Phe55Leufs) rs199475566
NM_000277.2(PAH):c.284_286delTCA (p.Ile95del) rs62508727
NM_000277.2(PAH):c.566C>G (p.Thr189Arg) rs1555204728
NM_000277.2(PAH):c.734_735delTGinsCA (p.Val245Ala) rs796052017
NM_000277.2(PAH):c.737C>A (p.Ala246Asp) rs199475610
NM_000277.2(PAH):c.837C>T (p.Pro279=) rs138355741
NM_000277.3(PAH):c.1066-11G>A rs5030855
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter) rs62516095
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.1169A>G (p.Glu390Gly) rs5030856
NM_000277.3(PAH):c.1199+1G>C rs62509015
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.1238G>C (p.Arg413Pro) rs79931499
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152
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.311C>A (p.Ala104Asp) rs62642929
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796
NM_000277.3(PAH):c.441+5G>T rs62507321
NM_000277.3(PAH):c.442-1G>A rs62514907
NM_000277.3(PAH):c.472C>T (p.Arg158Trp) rs75166491
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000277.3(PAH):c.508C>G (p.His170Asp) rs199475655
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336
NM_000277.3(PAH):c.581T>C (p.Leu194Pro) rs5030844
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508
NM_000277.3(PAH):c.722G>A (p.Arg241His) rs62508730
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.745C>T (p.Leu249Phe) rs74503222
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.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.912+1G>A rs62514956
NM_000277.3(PAH):c.926C>T (p.Ala309Val) rs62642935
NM_000277.3(PAH):c.963C>T (p.Leu321=) rs61747292

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