ClinVar Miner

List of variants in gene PAH reported as pathogenic by ClinGen PAH Variant Curation Expert Panel

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 288
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
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.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499 0.00011
NM_000277.3(PAH):c.533A>G (p.Glu178Gly) rs77958223 0.00010
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926 0.00009
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508 0.00009
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.473G>A (p.Arg158Gln) rs5030843 0.00007
NM_000277.3(PAH):c.814G>T (p.Gly272Ter) rs62514952 0.00006
NM_000277.3(PAH):c.1162G>A (p.Val388Met) rs62516101 0.00005
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) rs5030859 0.00004
NM_000277.3(PAH):c.331C>T (p.Arg111Ter) rs76296470 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.1256A>G (p.Gln419Arg) rs752255985 0.00003
NM_000277.3(PAH):c.136G>A (p.Gly46Ser) rs74603784 0.00003
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr) rs62514902 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.526C>T (p.Arg176Ter) rs199475575 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.916A>G (p.Ile306Val) rs62642934 0.00003
NM_000277.3(PAH):c.1066-3C>T rs62507344 0.00002
NM_000277.3(PAH):c.508C>G (p.His170Asp) rs199475655 0.00002
NM_000277.3(PAH):c.558_559del (p.Trp187fs) rs62517207 0.00002
NM_000277.3(PAH):c.806del (p.Ile269fs) rs62508687 0.00002
NM_000277.3(PAH):c.809G>A (p.Arg270Lys) rs62514950 0.00002
NM_000277.3(PAH):c.1012G>T (p.Asp338Tyr) rs62516150 0.00001
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062 0.00001
NM_000277.3(PAH):c.1200-1G>A rs62507322 0.00001
NM_000277.3(PAH):c.169-2A>G rs1226613045 0.00001
NM_000277.3(PAH):c.193A>G (p.Ile65Val) rs199475643 0.00001
NM_000277.3(PAH):c.1A>G (p.Met1Val) rs62514891 0.00001
NM_000277.3(PAH):c.320A>G (p.His107Arg) rs542645236 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.532G>A (p.Glu178Lys) rs1448720360 0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336 0.00001
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys) rs62514927 0.00001
NM_000277.3(PAH):c.653G>T (p.Gly218Val) rs62514933 0.00001
NM_000277.3(PAH):c.694C>T (p.Gln232Ter) rs62507348 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.829T>G (p.Tyr277Asp) rs78655458 0.00001
NM_000277.3(PAH):c.830A>G (p.Tyr277Cys) rs62516155 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.997C>T (p.Leu333Phe) rs62516060 0.00001
NM_000277.3(PAH):c.1002C>A (p.Cys334Ter)
NM_000277.3(PAH):c.1006C>T (p.Gln336Ter) rs62516061
NM_000277.3(PAH):c.1021A>T (p.Lys341Ter) rs62517200
NM_000277.3(PAH):c.1024del (p.Ala342fs) rs63581460
NM_000277.3(PAH):c.1029T>A (p.Tyr343Ter) rs1874735553
NM_000277.3(PAH):c.1038del (p.Leu347fs) rs62516063
NM_000277.3(PAH):c.1043_1053del (p.Leu348fs) rs199475600
NM_000277.3(PAH):c.1055del (p.Gly352fs) rs62516094
NM_000277.3(PAH):c.1056del (p.Glu353fs) rs62507350
NM_000277.3(PAH):c.1063C>T (p.Gln355Ter) rs199475633
NM_000277.3(PAH):c.1066-1G>A rs62508684
NM_000277.3(PAH):c.1066-1G>C rs62508684
NM_000277.3(PAH):c.1066-1G>T rs62508684
NM_000277.3(PAH):c.1066-2A>T rs281865447
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter) rs62516095
NM_000277.3(PAH):c.1071C>A (p.Cys357Ter) rs766107583
NM_000277.3(PAH):c.1076C>G (p.Ser359Ter) rs5030854
NM_000277.3(PAH):c.1078G>T (p.Glu360Ter) rs2136635903
NM_000277.3(PAH):c.1089del (p.Lys363fs) rs5030654
NM_000277.3(PAH):c.1099del (p.Leu367fs) rs62506951
NM_000277.3(PAH):c.1099dup (p.Leu367fs) rs62506951
NM_000277.3(PAH):c.1117_1118del (p.Ala373fs) rs62516099
NM_000277.3(PAH):c.111dup (p.Ile38fs) rs199475674
NM_000277.3(PAH):c.1127del (p.Asn376fs) rs62642921
NM_000277.3(PAH):c.1129del (p.Tyr377fs) rs62642941
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.1161C>A (p.Tyr387Ter) rs149595475
NM_000277.3(PAH):c.1162G>C (p.Val388Leu) rs62516101
NM_000277.3(PAH):c.1163_1164del (p.Val388fs) rs199475629
NM_000277.3(PAH):c.1166del (p.Ala389fs) rs62506949
NM_000277.3(PAH):c.1171_1172del (p.Ser391fs) rs1429055740
NM_000277.3(PAH):c.1176dup (p.Asn393Ter)
NM_000277.3(PAH):c.1197A>T (p.Val399=) rs199475584
NM_000277.3(PAH):c.1198del (p.Arg400fs) rs199475590
NM_000277.3(PAH):c.1199+1G>A rs62509015
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.1199+1G>T
NM_000277.3(PAH):c.1199G>C (p.Arg400Thr) rs199475658
NM_000277.3(PAH):c.1200-1G>C rs62507322
NM_000277.3(PAH):c.1200-2A>C rs1592945607
NM_000277.3(PAH):c.1200-2A>G rs1592945607
NM_000277.3(PAH):c.1215_1219del (p.Ile406fs) rs1874547168
NM_000277.3(PAH):c.121C>T (p.Leu41Phe) rs62642928
NM_000277.3(PAH):c.1232C>G (p.Ser411Ter)
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro) rs79931499
NM_000277.3(PAH):c.1242C>A (p.Tyr414Ter)
NM_000277.3(PAH):c.1243G>T (p.Asp415Tyr) rs62644499
NM_000277.3(PAH):c.1244A>T (p.Asp415Val) rs2136632085
NM_000277.3(PAH):c.1252A>C (p.Thr418Pro) rs62644501
NM_000277.3(PAH):c.1271T>A (p.Leu424Ter) rs199475670
NM_000277.3(PAH):c.127G>T (p.Glu43Ter) rs1555209575
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp) rs199475659
NM_000277.3(PAH):c.1314_1315+4del rs1334974448
NM_000277.3(PAH):c.1315+6T>A rs62508650
NM_000277.3(PAH):c.1316-1G>A rs1592944816
NM_000277.3(PAH):c.1316-2A>C rs760830761
NM_000277.3(PAH):c.137del (p.Gly46fs) rs199475591
NM_000277.3(PAH):c.13del (p.Val5fs) rs1592991243
NM_000277.3(PAH):c.155del (p.Leu52fs) rs281865165
NM_000277.3(PAH):c.165del (p.Phe55fs) rs199475566
NM_000277.3(PAH):c.168+1G>A rs62514898
NM_000277.3(PAH):c.168+2T>C rs1025860114
NM_000277.3(PAH):c.168G>T (p.Glu56Asp) rs199475567
NM_000277.3(PAH):c.169-1G>A rs1877439517
NM_000277.3(PAH):c.169G>T (p.Glu57Ter) rs140945592
NM_000277.3(PAH):c.171_172del (p.Glu57_Asn58insTer) rs1592979013
NM_000277.3(PAH):c.184_185insCTGA (p.Leu62fs) rs1592978986
NM_000277.3(PAH):c.184del (p.Asn61_Leu62insTer) rs1592978992
NM_000277.3(PAH):c.189_190dup (p.His64fs) rs672601294
NM_000277.3(PAH):c.190_194del (p.Thr63_His64insTer) rs1592978950
NM_000277.3(PAH):c.190del (p.His64fs) rs672601294
NM_000277.3(PAH):c.196G>T (p.Glu66Ter) rs281865454
NM_000277.3(PAH):c.197_204del (p.Glu66fs) rs2136702049
NM_000277.3(PAH):c.199T>C (p.Ser67Pro) rs5030842
NM_000277.3(PAH):c.1A>T (p.Met1Leu) rs62514891
NM_000277.3(PAH):c.202A>G (p.Arg68Gly) rs199475639
NM_000277.3(PAH):c.206dup (p.Ser70fs) rs1592978901
NM_000277.3(PAH):c.208_210del (p.Ser70del) rs62642094
NM_000277.3(PAH):c.226G>T (p.Glu76Ter) rs762949770
NM_000277.3(PAH):c.231T>G (p.Tyr77Ter) rs62507332
NM_000277.3(PAH):c.241_256del (p.Thr81fs) rs63749677
NM_000277.3(PAH):c.253A>T (p.Lys85Ter) rs1877430029
NM_000277.3(PAH):c.266_267insG (p.Ala90fs) rs1592978760
NM_000277.3(PAH):c.266dup (p.Ala90fs) rs62506950
NM_000277.3(PAH):c.277_280del (p.Asn93fs)
NM_000277.3(PAH):c.280_283del (p.Ile94fs)
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) rs62508727
NM_000277.3(PAH):c.2T>G (p.Met1Arg) rs62508575
NM_000277.3(PAH):c.30dup (p.Arg13fs) rs1592991220
NM_000277.3(PAH):c.324_328del (p.Glu108fs) rs1877424058
NM_000277.3(PAH):c.32T>A (p.Leu11Ter) rs1346707834
NM_000277.3(PAH):c.338_341del (p.Lys113fs)
NM_000277.3(PAH):c.344_347del (p.Lys115fs) rs199475648
NM_000277.3(PAH):c.346_347del (p.Asp116fs) rs1592978629
NM_000277.3(PAH):c.350del (p.Thr117fs) rs281865428
NM_000277.3(PAH):c.353-2A>G rs1876628624
NM_000277.3(PAH):c.353-2A>T
NM_000277.3(PAH):c.353-6T>A rs62517195
NM_000277.3(PAH):c.359G>A (p.Trp120Ter) rs199475586
NM_000277.3(PAH):c.398_401del (p.Asn133fs) rs199475605
NM_000277.3(PAH):c.3G>A (p.Met1Ile) rs62514893
NM_000277.3(PAH):c.400C>T (p.Gln134Ter) rs199475680
NM_000277.3(PAH):c.43_44insAG (p.Leu15fs) rs1592991196
NM_000277.3(PAH):c.441+1G>C rs62517166
NM_000277.3(PAH):c.441+2T>A rs1876618843
NM_000277.3(PAH):c.441+2T>G rs1876618843
NM_000277.3(PAH):c.441+3G>C rs62508642
NM_000277.3(PAH):c.442-1377_509+226del
NM_000277.3(PAH):c.442-1G>A rs62514907
NM_000277.3(PAH):c.442-1G>C rs62514907
NM_000277.3(PAH):c.442-2A>C rs281865448
NM_000277.3(PAH):c.442-2A>G
NM_000277.3(PAH):c.442-4403_509+883del
NM_000277.3(PAH):c.443_509+1del rs199475649
NM_000277.3(PAH):c.456_463dup (p.Arg155fs) rs2136663420
NM_000277.3(PAH):c.462C>A (p.Tyr154Ter) rs1191473722
NM_000277.3(PAH):c.463del (p.Arg155fs) rs1875984331
NM_000277.3(PAH):c.466G>C (p.Ala156Pro) rs199475686
NM_000277.3(PAH):c.478C>T (p.Gln160Ter)
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer) rs62642906
NM_000277.3(PAH):c.47_48dup (p.Asp17fs)
NM_000277.3(PAH):c.47_48insCT (p.Asp17fs) rs1592991184
NM_000277.3(PAH):c.48dup (p.Asp17Ter) rs1592991176
NM_000277.3(PAH):c.498C>A (p.Tyr166Ter) rs199475645
NM_000277.3(PAH):c.498C>G (p.Tyr166Ter) rs199475645
NM_000277.3(PAH):c.503del (p.Tyr168fs) rs199475661
NM_000277.3(PAH):c.504C>A (p.Tyr168Ter) rs281865455
NM_000277.3(PAH):c.505C>A (p.Arg169Ser) rs281865440
NM_000277.3(PAH):c.505C>G (p.Arg169Gly) rs281865440
NM_000277.3(PAH):c.509+1G>A rs63102461
NM_000277.3(PAH):c.510-19_667del
NM_000277.3(PAH):c.510-1G>A rs1875377960
NM_000277.3(PAH):c.510-1G>C
NM_000277.3(PAH):c.510-2A>G rs1555204750
NM_000277.3(PAH):c.514C>T (p.Gln172Ter) rs199475588
NM_000277.3(PAH):c.521T>C (p.Ile174Thr) rs138809906
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.551del (p.Lys184fs) rs1875371722
NM_000277.3(PAH):c.556del (p.Thr186fs) rs62507328
NM_000277.3(PAH):c.580_581del (p.Leu194fs) rs62508587
NM_000277.3(PAH):c.584dup (p.Ser196fs) rs1875368328
NM_000277.3(PAH):c.586_608del (p.Ser196fs) rs62895363
NM_000277.3(PAH):c.58C>T (p.Gln20Ter) rs199475585
NM_000277.3(PAH):c.590T>A (p.Leu197Ter) rs886042078
NM_000277.3(PAH):c.592_613del (p.Tyr198fs) rs199475697
NM_000277.3(PAH):c.593_614del (p.Tyr198fs) rs63749676
NM_000277.3(PAH):c.594T>G (p.Tyr198Ter)
NM_000277.3(PAH):c.598dup (p.Thr200fs) rs62508643
NM_000277.3(PAH):c.60+5G>C rs62514895
NM_000277.3(PAH):c.607dup (p.Cys203fs) rs1875366372
NM_000277.3(PAH):c.612T>G (p.Tyr204Ter) rs62514928
NM_000277.3(PAH):c.618C>A (p.Tyr206Ter) rs62517201
NM_000277.3(PAH):c.618C>G (p.Tyr206Ter) rs62517201
NM_000277.3(PAH):c.632del (p.Pro211fs) rs62514929
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.664_665del (p.Glu221_Asp222insTer) rs62514936
NM_000277.3(PAH):c.667_674dup (p.Gln226fs) rs2136649263
NM_000277.3(PAH):c.669del (p.Asn223fs)
NM_000277.3(PAH):c.682G>T (p.Glu228Ter) rs281865444
NM_000277.3(PAH):c.686dup (p.Asp229fs) rs1565848110
NM_000277.3(PAH):c.690_691insG (p.Ser231fs) rs1875354018
NM_000277.3(PAH):c.697T>A (p.Phe233Ile) rs1565848061
NM_000277.3(PAH):c.699C>A (p.Phe233Leu) rs62517208
NM_000277.3(PAH):c.699C>G (p.Phe233Leu) rs62517208
NM_000277.3(PAH):c.703C>T (p.Gln235Ter) rs1237792711
NM_000277.3(PAH):c.707-1G>A rs62507269
NM_000277.3(PAH):c.707-1G>C rs62507269
NM_000277.3(PAH):c.707-2A>G rs62514938
NM_000277.3(PAH):c.707-2del rs1592953143
NM_000277.3(PAH):c.722G>A (p.Arg241His) 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.733G>A (p.Val245Met) rs62508694
NM_000277.3(PAH):c.733G>C (p.Val245Leu) rs62508694
NM_000277.3(PAH):c.740del (p.Gly247fs) rs2136646337
NM_000277.3(PAH):c.745del (p.Leu249fs) rs1057516914
NM_000277.3(PAH):c.753_754del (p.Arg252fs) rs2136646297
NM_000277.3(PAH):c.753del (p.Arg252fs) rs2136646301
NM_000277.3(PAH):c.754C>G (p.Arg252Gly) rs5030847
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000277.3(PAH):c.75del (p.Ile25fs)
NM_000277.3(PAH):c.770G>T (p.Gly257Val) rs62642908
NM_000277.3(PAH):c.782G>C (p.Arg261Pro) rs5030849
NM_000277.3(PAH):c.788T>C (p.Phe263Ser) rs1565846863
NM_000277.3(PAH):c.795C>A (p.Cys265Ter) rs1231529155
NM_000277.3(PAH):c.799C>G (p.Gln267Glu) rs199475676
NM_000277.3(PAH):c.799C>T (p.Gln267Ter) rs199475676
NM_000277.3(PAH):c.800A>G (p.Gln267Arg) rs778154939
NM_000277.3(PAH):c.804C>A (p.Tyr268Ter) rs748337823
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.810_814del (p.His271fs) rs62507286
NM_000277.3(PAH):c.822_832del (p.Lys274fs) rs199475581
NM_000277.3(PAH):c.823C>T (p.Pro275Ser) rs62508691
NM_000277.3(PAH):c.824C>T (p.Pro275Leu) rs62508715
NM_000277.3(PAH):c.833C>A (p.Thr278Asn) rs62507262
NM_000277.3(PAH):c.833C>T (p.Thr278Ile) rs62507262
NM_000277.3(PAH):c.837del (p.Glu280fs) rs281865429
NM_000277.3(PAH):c.839_840insT (p.Glu280fs) rs199475653
NM_000277.3(PAH):c.842+1G>T rs5030852
NM_000277.3(PAH):c.842+2T>A rs62514955
NM_000277.3(PAH):c.913-2A>G rs1555203951
NM_000277.3(PAH):c.916del (p.Ile306fs) rs281865456
NM_000277.3(PAH):c.920del (p.Gly307fs) rs2136639687
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.935G>T (p.Gly312Val) rs62642915
NM_000277.3(PAH):c.935del (p.Gly312fs) rs2136639639
NM_000277.3(PAH):c.938C>T (p.Ala313Val) rs62642914
NM_000277.3(PAH):c.940C>T (p.Pro314Ser) rs199475650
NM_000277.3(PAH):c.941del (p.Pro314fs) rs62642907
NM_000277.3(PAH):c.969+5G>A rs62508637
NM_000277.3(PAH):c.971T>A (p.Ile324Asn)
NM_000277.3(PAH):c.975C>G (p.Tyr325Ter) rs62508573
NM_000277.3(PAH):c.976del (p.Trp326fs) rs1874741770
NM_000277.3(PAH):c.977G>A (p.Trp326Ter) rs62514959

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