ClinVar Miner

Variants in gene PAH with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 239
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00023
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796 0.00009
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646 0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile) rs180819807 0.00007
NM_000277.3(PAH):c.204A>T (p.Arg68Ser) rs76394784 0.00007
NM_000277.3(PAH):c.1238G>A (p.Arg413His) rs79931499 0.00004
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151 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.1123C>G (p.Gln375Glu) rs184148104 0.00003
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys) rs62516141 0.00003
NM_000277.3(PAH):c.1256A>G (p.Gln419Arg) rs752255985 0.00003
NM_000277.3(PAH):c.157C>T (p.Arg53Cys) rs199475619 0.00003
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr) rs62514902 0.00003
NM_000277.3(PAH):c.2T>C (p.Met1Thr) rs62508575 0.00003
NM_000277.3(PAH):c.428A>T (p.Asp143Val) rs199475572 0.00003
NM_000277.3(PAH):c.516G>T (p.Gln172His) rs192592111 0.00003
NM_000277.3(PAH):c.631C>A (p.Pro211Thr) rs62514931 0.00003
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934 0.00003
NM_000277.3(PAH):c.937G>A (p.Ala313Thr) rs62642912 0.00003
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) rs62514958 0.00003
NM_000277.3(PAH):c.1066-3C>T rs62507344 0.00002
NM_000277.3(PAH):c.1218A>G (p.Ile406Met) rs773526027 0.00002
NM_000277.3(PAH):c.283A>T (p.Ile95Phe) rs62508682 0.00002
NM_000277.3(PAH):c.463C>T (p.Arg155Cys) rs539743701 0.00002
NM_000277.3(PAH):c.558_559del (p.Trp187fs) rs62517207 0.00002
NM_000277.3(PAH):c.581T>C (p.Leu194Pro) rs5030844 0.00002
NM_000277.3(PAH):c.806del (p.Ile269fs) rs62508687 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.1184C>G (p.Ala395Gly) rs62508736 0.00001
NM_000277.3(PAH):c.1199+17G>A rs62508613 0.00001
NM_000277.3(PAH):c.1199G>A (p.Arg400Lys) rs199475658 0.00001
NM_000277.3(PAH):c.1200-1G>A rs62507322 0.00001
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe) rs1402168594 0.00001
NM_000277.3(PAH):c.140C>T (p.Ala47Val) rs118203925 0.00001
NM_000277.3(PAH):c.169-13T>G rs62507341 0.00001
NM_000277.3(PAH):c.183C>G (p.Asn61Lys) rs199475634 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.241A>C (p.Thr81Pro) rs62509017 0.00001
NM_000277.3(PAH):c.320A>G (p.His107Arg) rs542645236 0.00001
NM_000277.3(PAH):c.386A>G (p.Asp129Gly) rs199475623 0.00001
NM_000277.3(PAH):c.442-5C>G rs62514909 0.00001
NM_000277.3(PAH):c.442G>A (p.Gly148Ser) rs80297647 0.00001
NM_000277.3(PAH):c.490A>G (p.Ile164Val) rs199475647 0.00001
NM_000277.3(PAH):c.493G>A (p.Ala165Thr) rs199475626 0.00001
NM_000277.3(PAH):c.505C>T (p.Arg169Cys) rs281865440 0.00001
NM_000277.3(PAH):c.511G>A (p.Gly171Arg) rs199475613 0.00001
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632 0.00001
NM_000277.3(PAH):c.535T>A (p.Tyr179Asn) rs199475671 0.00001
NM_000277.3(PAH):c.545A>G (p.Glu182Gly) rs199475617 0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336 0.00001
NM_000277.3(PAH):c.653G>T (p.Gly218Val) rs62514933 0.00001
NM_000277.3(PAH):c.665A>G (p.Asp222Gly) rs62507319 0.00001
NM_000277.3(PAH):c.712A>C (p.Thr238Pro) rs199475577 0.00001
NM_000277.3(PAH):c.716G>T (p.Gly239Val) rs62507283 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.776C>T (p.Ala259Val) rs118203921 0.00001
NM_000277.3(PAH):c.818C>T (p.Ser273Phe) rs62514953 0.00001
NM_000277.3(PAH):c.830A>G (p.Tyr277Cys) rs62516155 0.00001
NM_000277.3(PAH):c.835C>G (p.Pro279Ala) rs1555204441 0.00001
NM_000277.3(PAH):c.842+3G>C rs62507324 0.00001
NM_000277.3(PAH):c.913-7A>G rs62517165 0.00001
NM_000277.3(PAH):c.922C>T (p.Leu308Phe) rs62642095 0.00001
NM_000277.3(PAH):c.926C>T (p.Ala309Val) rs62642935 0.00001
NM_000277.3(PAH):c.932T>C (p.Leu311Pro) rs62642936 0.00001
NM_000277.3(PAH):c.940C>A (p.Pro314Thr) rs199475650 0.00001
NM_000277.3(PAH):c.941C>A (p.Pro314His) rs62642940 0.00001
NM_000277.3(PAH):c.968_970del (p.Thr323del) rs199475618 0.00001
NM_000277.3(PAH):c.970-1G>A rs202183605 0.00001
NM_000277.3(PAH):c.982A>G (p.Thr328Ala) rs199475616 0.00001
NM_000277.2(PAH):c.169_171delGAG rs199475665
NM_000277.3(PAH):c.1002C>A (p.Cys334Ter)
NM_000277.3(PAH):c.1024G>A (p.Ala342Thr) rs62507282
NM_000277.3(PAH):c.1031G>A (p.Gly344Asp) rs62508582
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr) rs62516062
NM_000277.3(PAH):c.1054G>T (p.Gly352Cys) rs62508686
NM_000277.3(PAH):c.1065+1G>A rs62516147
NM_000277.3(PAH):c.1065+1G>T rs62516147
NM_000277.3(PAH):c.1065+241C>A rs2136636327
NM_000277.3(PAH):c.1066-14C>G rs62507334
NM_000277.3(PAH):c.1066-2A>T rs281865447
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe) rs376480977
NM_000277.3(PAH):c.1089del (p.Lys363fs) rs5030654
NM_000277.3(PAH):c.1092_1094del (p.Leu365del) rs62516096
NM_000277.3(PAH):c.1092_1106del (p.Leu365_Leu369del) rs62516097
NM_000277.3(PAH):c.1097C>A (p.Pro366His) rs62516098
NM_000277.3(PAH):c.1099del (p.Leu367fs) rs62506951
NM_000277.3(PAH):c.1102G>A (p.Glu368Lys) rs1488232864
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly) rs1592947508
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser) rs62517163
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del) rs199475565
NM_000277.3(PAH):c.1144T>C (p.Phe382Leu) rs1555203681
NM_000277.3(PAH):c.1147C>T (p.Gln383Ter) rs1037293795
NM_000277.3(PAH):c.1159T>C (p.Tyr387His) rs62517194
NM_000277.3(PAH):c.1166del (p.Ala389fs) rs62506949
NM_000277.3(PAH):c.1171_1172del (p.Ser391fs) rs1429055740
NM_000277.3(PAH):c.1180G>C (p.Asp394His) rs62516142
NM_000277.3(PAH):c.1181A>C (p.Asp394Ala) rs62516102
NM_000277.3(PAH):c.1187A>G (p.Lys396Arg) rs776178623
NM_000277.3(PAH):c.1194A>G (p.Lys398=) rs199475638
NM_000277.3(PAH):c.1199+1G>A rs62509015
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.1200-8G>A rs62507261
NM_000277.3(PAH):c.1219C>T (p.Pro407Ser) rs62644465
NM_000277.3(PAH):c.1220C>T (p.Pro407Leu) rs62644473
NM_000277.3(PAH):c.1240T>C (p.Tyr414His) rs281865437
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln) rs1445893088
NM_000277.3(PAH):c.1250A>G (p.Tyr417Cys) rs1371700813
NM_000277.3(PAH):c.1262T>C (p.Ile421Thr) rs199475696
NM_000277.3(PAH):c.127G>T (p.Glu43Ter) rs1555209575
NM_000277.3(PAH):c.1282C>T (p.Gln428Ter) rs567261857
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys) rs764974157
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp) rs199475659
NM_000277.3(PAH):c.1304A>T (p.Asp435Val) rs1592945394
NM_000277.3(PAH):c.1314_1315+4del rs1334974448
NM_000277.3(PAH):c.1315+2T>C rs1799970
NM_000277.3(PAH):c.1315+4A>G rs62508649
NM_000277.3(PAH):c.1315+6T>A rs62508650
NM_000277.3(PAH):c.1357_*2del (p.Ter453ProextTer?) rs794727086
NM_000277.3(PAH):c.155T>C (p.Leu52Ser) rs199475630
NM_000277.3(PAH):c.168+1G>A rs62514898
NM_000277.3(PAH):c.168+5G>A rs62507288
NM_000277.3(PAH):c.168_168+1delinsAA rs786204457
NM_000277.3(PAH):c.169G>T (p.Glu57Ter) rs140945592
NM_000277.3(PAH):c.183C>A (p.Asn61Lys) rs199475634
NM_000277.3(PAH):c.196G>T (p.Glu66Ter) rs281865454
NM_000277.3(PAH):c.199T>C (p.Ser67Pro) rs5030842
NM_000277.3(PAH):c.223G>C (p.Asp75His) rs767453024
NM_000277.3(PAH):c.226G>T (p.Glu76Ter) rs762949770
NM_000277.3(PAH):c.227A>G (p.Glu76Gly) rs62507347
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) rs62508727
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167
NM_000277.3(PAH):c.301G>A (p.Asp101Asn) rs1555207979
NM_000277.3(PAH):c.305T>C (p.Ile102Thr) rs62508591
NM_000277.3(PAH):c.329del (p.Ser110fs) rs1057516389
NM_000277.3(PAH):c.350del (p.Thr117fs) rs281865428
NM_000277.3(PAH):c.352+1G>A rs199475684
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.357del (p.Trp120fs) rs794727619
NM_000277.3(PAH):c.364C>T (p.Pro122Ser) rs1466564208
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr) rs199475606
NM_000277.3(PAH):c.3G>C (p.Met1Ile) rs62514893
NM_000277.3(PAH):c.400C>T (p.Gln134Ter) rs199475680
NM_000277.3(PAH):c.439C>T (p.Pro147Ser) rs199475624
NM_000277.3(PAH):c.440C>T (p.Pro147Leu) rs199475694
NM_000277.3(PAH):c.441+1G>C rs62517166
NM_000277.3(PAH):c.441+3G>C rs62508642
NM_000277.3(PAH):c.441+6T>A rs199475698
NM_000277.3(PAH):c.442-2A>C rs281865448
NM_000277.3(PAH):c.460T>C (p.Tyr154His) rs199475587
NM_000277.3(PAH):c.461A>T (p.Tyr154Phe) rs1565853526
NM_000277.3(PAH):c.462C>A (p.Tyr154Ter) rs1191473722
NM_000277.3(PAH):c.464G>C (p.Arg155Pro) rs199475663
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer) rs62642906
NM_000277.3(PAH):c.482T>C (p.Phe161Ser) rs79635844
NM_000277.3(PAH):c.493G>C (p.Ala165Pro) rs199475626
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.504C>A (p.Tyr168Ter) rs281865455
NM_000277.3(PAH):c.510-2A>G rs1555204750
NM_000277.3(PAH):c.510T>A (p.His170Gln) rs199475652
NM_000277.3(PAH):c.527G>A (p.Arg176Gln) rs74486803
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.535T>C (p.Tyr179His) rs199475671
NM_000277.3(PAH):c.556del (p.Thr186fs) rs62507328
NM_000277.3(PAH):c.561G>C (p.Trp187Cys) rs62507336
NM_000277.3(PAH):c.563G>A (p.Gly188Asp) rs199475689
NM_000277.3(PAH):c.580_581del (p.Leu194fs) rs62508587
NM_000277.3(PAH):c.58C>T (p.Gln20Ter) rs199475585
NM_000277.3(PAH):c.591G>C (p.Leu197Phe) rs281865442
NM_000277.3(PAH):c.592_613del (p.Tyr198fs) rs199475697
NM_000277.3(PAH):c.601C>T (p.His201Tyr) rs62517205
NM_000277.3(PAH):c.603T>G (p.His201Gln) rs751977644
NM_000277.3(PAH):c.610dup (p.Tyr204fs) rs1555204711
NM_000277.3(PAH):c.618C>G (p.Tyr206Ter) rs62517201
NM_000277.3(PAH):c.620A>G (p.Asn207Ser) rs62508721
NM_000277.3(PAH):c.632C>T (p.Pro211Leu) rs281865443
NM_000277.3(PAH):c.635T>C (p.Leu212Pro) rs62517198
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109
NM_000277.3(PAH):c.662A>G (p.Glu221Gly) rs62514934
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer) rs62514936
NM_000277.3(PAH):c.665A>T (p.Asp222Val) rs62507319
NM_000277.3(PAH):c.671T>C (p.Ile224Thr) rs62507323
NM_000277.3(PAH):c.676C>A (p.Gln226Lys) rs62508696
NM_000277.3(PAH):c.682G>A (p.Glu228Lys) rs281865444
NM_000277.3(PAH):c.707-12_711del rs1555204492
NM_000277.3(PAH):c.722G>T (p.Arg241Leu) rs62508730
NM_000277.3(PAH):c.722del (p.Arg241fs) rs199475657
NM_000277.3(PAH):c.724C>T (p.Leu242Phe) rs199475578
NM_000277.3(PAH):c.731C>T (p.Pro244Leu) rs118203923
NM_000277.3(PAH):c.733G>C (p.Val245Leu) rs62508694
NM_000277.3(PAH):c.739G>C (p.Gly247Arg) rs62508731
NM_000277.3(PAH):c.740G>T (p.Gly247Val) rs199475579
NM_000277.3(PAH):c.745del (p.Leu249fs) rs1057516914
NM_000277.3(PAH):c.754C>G (p.Arg252Gly) rs5030847
NM_000277.3(PAH):c.755G>C (p.Arg252Pro) rs62644503
NM_000277.3(PAH):c.764T>C (p.Leu255Ser) rs62642930
NM_000277.3(PAH):c.770G>T (p.Gly257Val) rs62642908
NM_000277.3(PAH):c.775G>A (p.Ala259Thr) rs62642932
NM_000277.3(PAH):c.782G>C (p.Arg261Pro) rs5030849
NM_000277.3(PAH):c.800A>T (p.Gln267Leu) rs778154939
NM_000277.3(PAH):c.803A>G (p.Tyr268Cys) rs1565846805
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.823C>T (p.Pro275Ser) rs62508691
NM_000277.3(PAH):c.824C>G (p.Pro275Arg) rs62508715
NM_000277.3(PAH):c.824C>T (p.Pro275Leu) rs62508715
NM_000277.3(PAH):c.826A>G (p.Met276Val) rs62516149
NM_000277.3(PAH):c.827T>A (p.Met276Lys) rs62508722
NM_000277.3(PAH):c.827T>C (p.Met276Thr)
NM_000277.3(PAH):c.827T>G (p.Met276Arg) rs62508722
NM_000277.3(PAH):c.833C>A (p.Thr278Asn) rs62507262
NM_000277.3(PAH):c.836C>T (p.Pro279Leu) rs796064503
NM_000277.3(PAH):c.837del (p.Glu280fs) rs281865429
NM_000277.3(PAH):c.842+4A>G rs1555204434
NM_000277.3(PAH):c.842C>A (p.Pro281His) rs5030851
NM_000277.3(PAH):c.913-2A>C rs1555203951
NM_000277.3(PAH):c.916del (p.Ile306fs) rs281865456
NM_000277.3(PAH):c.920G>A (p.Gly307Asp) rs2136639683
NM_000277.3(PAH):c.926C>A (p.Ala309Asp) rs62642935
NM_000277.3(PAH):c.929C>T (p.Ser310Phe) rs62642913
NM_000277.3(PAH):c.931_932del (p.Leu311fs) rs281865430
NM_000277.3(PAH):c.960G>C (p.Lys320Asn) rs199475615
NM_000277.3(PAH):c.969+1G>A rs62508584
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys) rs62508578
NM_000277.3(PAH):c.992T>C (p.Phe331Ser) rs199475614
NM_000277.3(PAH):c.992T>G (p.Phe331Cys) rs199475614

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