ClinVar Miner

List of variants in gene PAH reported by GeneDx

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Gene type:
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Total variants: 190
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.510-217C>T rs2251897 0.88924
NM_000277.3(PAH):c.1200-186T>C rs798709 0.88885
NM_000277.3(PAH):c.510-303C>T rs2251894 0.65652
NM_000277.3(PAH):c.442-193A>G rs2133298 0.41153
NM_000277.3(PAH):c.442-167A>G rs2247836 0.38431
NM_000277.3(PAH):c.441+47C>T rs1718301 0.37849
NM_000277.3(PAH):c.969+43G>T rs1522306 0.36369
NM_000277.3(PAH):c.1066-236C>T rs772896 0.36069
NM_000277.3(PAH):c.60+134A>G rs1522295 0.34450
NM_000277.3(PAH):c.60+62C>T rs1522296 0.34408
NM_000277.3(PAH):c.510-54G>A rs2251905 0.32128
NM_000277.3(PAH):c.*187G>A rs1801153 0.31301
NM_000277.3(PAH):c.1200-251C>T rs2245360 0.30400
NM_000277.3(PAH):c.61-345T>C rs1498688 0.24218
NM_000277.3(PAH):c.353-22C>T rs2037639 0.23047
NM_000277.3(PAH):c.970-195G>A rs1072528 0.22974
NM_000277.3(PAH):c.1065+205A>T rs10860929 0.22962
NM_000277.3(PAH):c.1065+155T>C rs10860931 0.21630
NM_000277.3(PAH):c.969+221T>G rs2270729 0.21403
NM_000277.3(PAH):c.1066-193G>C rs10860928 0.21396
NM_000277.3(PAH):c.1065+156T>G rs10860930 0.21312
NM_000277.3(PAH):c.168+19T>C rs17842947 0.21168
NM_000277.3(PAH):c.1199+264G>A rs2242381 0.19800
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503 0.19782
NM_000277.3(PAH):c.509+101A>C rs10860933 0.18689
NM_000277.3(PAH):c.-71A>C rs2280615 0.14554
NM_001354304.2(PAH):c.-95-669G>C rs34674687 0.10811
NM_000277.3(PAH):c.1315+163del rs142522265 0.04817
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968 0.04124
NM_000277.3(PAH):c.706+56G>A rs76887545 0.02871
NM_000277.3(PAH):c.842+201G>T rs78795840 0.02871
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_000277.3(PAH):c.-81C>T rs7954004 0.02852
NM_000277.2(PAH):c.-223G>A rs74820934 0.02848
NM_000277.2(PAH):c.-147C>T rs62517177 0.02757
NM_000277.2(PAH):c.-316T>C rs35465699 0.02613
NM_000277.3(PAH):c.1315+69G>A rs77181841 0.02228
NM_000277.3(PAH):c.353-138G>A rs7964033 0.01923
NM_000277.3(PAH):c.510-254C>T rs115410641 0.01766
NM_000277.3(PAH):c.1316-35C>T rs62509021 0.01677
NM_000277.3(PAH):c.963C>T (p.Leu321=) rs61747292 0.01582
NM_000277.3(PAH):c.60+299C>G rs75094967 0.01317
NM_000277.3(PAH):c.168+267A>T rs113190378 0.01283
NM_001354304.2(PAH):c.-95-532G>A rs77411738 0.01268
NM_000277.3(PAH):c.509+140G>A rs112222839 0.01009
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152 0.00779
NM_000277.3(PAH):c.*19G>T rs372637021 0.00126
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_000277.3(PAH):c.30C>G (p.Gly10=) rs1801145 0.00068
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00056
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00048
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000277.3(PAH):c.299A>G (p.His100Arg) rs148393887 0.00034
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00031
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00030
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00030
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00026
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00019
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00015
NM_000277.3(PAH):c.1042C>G (p.Leu348Val) rs62516092 0.00014
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646 0.00009
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926 0.00009
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796 0.00009
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508 0.00009
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698 0.00009
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499 0.00008
NM_000277.3(PAH):c.837C>T (p.Pro279=) rs138355741 0.00008
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843 0.00007
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292 0.00006
NM_000277.3(PAH):c.814G>T (p.Gly272Ter) rs62514952 0.00006
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) rs5030859 0.00004
NM_000277.3(PAH):c.472C>T (p.Arg158Trp) rs75166491 0.00004
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846 0.00004
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_000277.3(PAH):c.964G>A (p.Ala322Thr) rs62514957 0.00004
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter) rs62516095 0.00003
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys) rs62516141 0.00003
NM_000277.3(PAH):c.157C>T (p.Arg53Cys) rs199475619 0.00003
NM_000277.3(PAH):c.168+5G>C rs62507288 0.00003
NM_000277.3(PAH):c.2T>C (p.Met1Thr) rs62508575 0.00003
NM_000277.3(PAH):c.311C>A (p.Ala104Asp) rs62642929 0.00003
NM_000277.3(PAH):c.464G>A (p.Arg155His) rs199475663 0.00003
NM_000277.3(PAH):c.516G>T (p.Gln172His) rs192592111 0.00003
NM_000277.3(PAH):c.60+5G>T rs62514895 0.00003
NM_000277.3(PAH):c.631C>A (p.Pro211Thr) rs62514931 0.00003
NM_000277.3(PAH):c.745C>T (p.Leu249Phe) rs74503222 0.00003
NM_000277.3(PAH):c.1066-3C>T rs62507344 0.00002
NM_000277.3(PAH):c.283A>T (p.Ile95Phe) rs62508682 0.00002
NM_000277.3(PAH):c.581T>C (p.Leu194Pro) rs5030844 0.00002
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109 0.00002
NM_000277.3(PAH):c.842+5G>A rs62516146 0.00002
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062 0.00001
NM_000277.3(PAH):c.1101G>A (p.Leu367=) rs62508648 0.00001
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile) rs180819807 0.00001
NM_000277.3(PAH):c.1199+17G>A rs62508613 0.00001
NM_000277.3(PAH):c.1259G>T (p.Arg420Met) rs767075719 0.00001
NM_000277.3(PAH):c.1340C>A (p.Ala447Asp) rs76542238 0.00001
NM_000277.3(PAH):c.169-13T>G rs62507341 0.00001
NM_000277.3(PAH):c.1A>G (p.Met1Val) rs62514891 0.00001
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695 0.00001
NM_000277.3(PAH):c.275C>T (p.Thr92Ile) rs62514903 0.00001
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167 0.00001
NM_000277.3(PAH):c.441+1G>A rs62517166 0.00001
NM_000277.3(PAH):c.441+5G>T rs62507321 0.00001
NM_000277.3(PAH):c.442-1G>A rs62514907 0.00001
NM_000277.3(PAH):c.442G>A (p.Gly148Ser) rs80297647 0.00001
NM_000277.3(PAH):c.505C>T (p.Arg169Cys) rs281865440 0.00001
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632 0.00001
NM_000277.3(PAH):c.559T>C (p.Trp187Arg) rs62507272 0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336 0.00001
NM_000277.3(PAH):c.601C>T (p.His201Tyr) rs62517205 0.00001
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys) rs62514927 0.00001
NM_000277.3(PAH):c.648C>G (p.Tyr216Ter) rs62509013 0.00001
NM_000277.3(PAH):c.712A>C (p.Thr238Pro) rs199475577 0.00001
NM_000277.3(PAH):c.718T>G (p.Phe240Val) rs62507337 0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 0.00001
NM_000277.3(PAH):c.755G>A (p.Arg252Gln) rs62644503 0.00001
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) rs5030850 0.00001
NM_000277.3(PAH):c.789C>G (p.Phe263Leu) rs62642944 0.00001
NM_000277.3(PAH):c.809G>A (p.Arg270Lys) rs62514950 0.00001
NM_000277.3(PAH):c.811C>T (p.His271Tyr) rs62517164 0.00001
NM_000277.3(PAH):c.827T>C (p.Met276Thr) rs62508722 0.00001
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp) rs78655458 0.00001
NM_000277.3(PAH):c.926C>T (p.Ala309Val) rs62642935 0.00001
NM_000277.3(PAH):c.969+6T>A rs62517196 0.00001
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys) rs62508578 0.00001
NM_000277.3(PAH):c.982A>G (p.Thr328Ala) rs199475616 0.00001
NM_000277.1:c.169_171del
NM_000277.2(PAH):c.-460delG rs113191080
NM_000277.3(PAH):c.1024del (p.Ala342fs) rs63581460
NM_000277.3(PAH):c.1028A>G (p.Tyr343Cys) rs62507265
NM_000277.3(PAH):c.1049C>A (p.Ser350Tyr) rs62508628
NM_000277.3(PAH):c.1055del (p.Gly352fs) rs62516094
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter) rs62516095
NM_000277.3(PAH):c.1089del (p.Lys363fs) rs5030654
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del) rs199475565
NM_000277.3(PAH):c.1162G>C (p.Val388Leu) rs62516101
NM_000277.3(PAH):c.1197A>T (p.Val399=) rs199475584
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro) rs79931499
NM_000277.3(PAH):c.1249T>C (p.Tyr417His) rs62644471
NM_000277.3(PAH):c.1316-5T>C rs62509020
NM_000277.3(PAH):c.165del (p.Phe55fs) rs199475566
NM_000277.3(PAH):c.169-3T>G rs1877439666
NM_000277.3(PAH):c.187A>C (p.Thr63Pro) rs199475568
NM_000277.3(PAH):c.187_190delinsCCCA (p.Thr63_His64delinsProAsn) rs1877437047
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) rs62508727
NM_000277.3(PAH):c.352+164T>A rs78243047
NM_000277.3(PAH):c.352+294dup rs3062651
NM_000277.3(PAH):c.352+305del rs3062651
NM_000277.3(PAH):c.353-172G>A rs74392296
NM_000277.3(PAH):c.357del (p.Trp120fs) rs794727619
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr) rs199475606
NM_000277.3(PAH):c.398_401del (p.Asn133fs) rs199475605
NM_000277.3(PAH):c.441+6T>A rs199475698
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer) rs62642906
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.508C>G (p.His170Asp) rs199475655
NM_000277.3(PAH):c.510-20_510-18dup rs398123293
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000277.3(PAH):c.529G>C (p.Val177Leu) rs199475602
NM_000277.3(PAH):c.547G>C (p.Glu183Gln) rs199475664
NM_000277.3(PAH):c.566C>G (p.Thr189Arg) rs1555204728
NM_000277.3(PAH):c.574A>G (p.Lys192Glu) rs932415157
NM_000277.3(PAH):c.58C>T (p.Gln20Ter) rs199475585
NM_000277.3(PAH):c.592_613del (p.Tyr198fs) rs199475697
NM_000277.3(PAH):c.60+62C>G rs1522296
NM_000277.3(PAH):c.612T>G (p.Tyr204Ter) rs62514928
NM_000277.3(PAH):c.637C>T (p.Leu213Phe) rs1131691945
NM_000277.3(PAH):c.670A>C (p.Ile224Leu) rs2499625917
NM_000277.3(PAH):c.722G>A (p.Arg241His) rs62508730
NM_000277.3(PAH):c.733G>C (p.Val245Leu) rs62508694
NM_000277.3(PAH):c.734_735inv (p.Val245Ala)
NM_000277.3(PAH):c.737C>A (p.Ala246Asp) rs199475610
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000277.3(PAH):c.757G>A (p.Asp253Asn) rs765533320
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.806T>A (p.Ile269Asn) rs199475644
NM_000277.3(PAH):c.822_832del (p.Lys274fs) rs199475581
NM_000277.3(PAH):c.839A>C (p.Glu280Ala) rs62508734
NM_000277.3(PAH):c.842+4A>G rs1555204434
NM_000277.3(PAH):c.960G>C (p.Lys320Asn) rs199475615
NM_000277.3(PAH):c.990G>C (p.Glu330Asp) rs62508580
NM_001354304.2(PAH):c.-95-385_-95-382del rs147576673

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