ClinVar Miner

List of variants reported as pathogenic for Phenylketonuria by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 155
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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.1315+1G>A rs5030861 0.00040
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.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.1042C>G (p.Leu348Val) rs62516092 0.00014
NM_000277.3(PAH):c.533A>G (p.Glu178Gly) rs77958223 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
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.1045T>C (p.Ser349Pro) rs62508646 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.896T>G (p.Phe299Cys) rs62642933 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.1068C>G (p.Tyr356Ter) rs62516095 0.00003
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys) rs62516141 0.00003
NM_000277.3(PAH):c.136G>A (p.Gly46Ser) rs74603784 0.00003
NM_000277.3(PAH):c.168+5G>C rs62507288 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.60+5G>T rs62514895 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.283A>T (p.Ile95Phe) rs62508682 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.842+5G>A rs62516146 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.1183G>C (p.Ala395Pro) rs62516103 0.00001
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly) rs62508736 0.00001
NM_000277.3(PAH):c.1340C>A (p.Ala447Asp) rs76542238 0.00001
NM_000277.3(PAH):c.140C>T (p.Ala47Val) rs118203925 0.00001
NM_000277.3(PAH):c.1A>G (p.Met1Val) rs62514891 0.00001
NM_000277.3(PAH):c.36del (p.Arg13fs) rs1878413079 0.00001
NM_000277.3(PAH):c.386A>G (p.Asp129Gly) rs199475623 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.520A>G (p.Ile174Val) rs199475632 0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336 0.00001
NM_000277.3(PAH):c.569T>C (p.Val190Ala) rs62514919 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.665A>G (p.Asp222Gly) rs62507319 0.00001
NM_000277.3(PAH):c.673C>A (p.Pro225Thr) rs199475589 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.781C>T (p.Arg261Ter) rs5030850 0.00001
NM_000277.3(PAH):c.818C>T (p.Ser273Phe) rs62514953 0.00001
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp) rs78655458 0.00001
NM_000277.3(PAH):c.842+3G>C rs62507324 0.00001
NM_000277.3(PAH):c.847A>T (p.Ile283Phe) rs62517168 0.00001
NM_000277.3(PAH):c.912+1G>A rs62514956 0.00001
NM_000277.3(PAH):c.913-7A>G rs62517165 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.1024G>C (p.Ala342Pro) rs62507282
NM_000277.3(PAH):c.1024del (p.Ala342fs) rs63581460
NM_000277.3(PAH):c.1028A>G (p.Tyr343Cys) rs62507265
NM_000277.3(PAH):c.1038del (p.Leu347fs) rs62516063
NM_000277.3(PAH):c.1055del (p.Gly352fs) rs62516094
NM_000277.3(PAH):c.1065+1G>T rs62516147
NM_000277.3(PAH):c.1066-14C>G rs62507334
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter) rs62516095
NM_000277.3(PAH):c.1089del (p.Lys363fs) rs5030654
NM_000277.3(PAH):c.1097C>A (p.Pro366His) rs62516098
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del) rs199475565
NM_000277.3(PAH):c.1161C>A (p.Tyr387Ter) rs149595475
NM_000277.3(PAH):c.1180G>C (p.Asp394His) rs62516142
NM_000277.3(PAH):c.1189G>T (p.Glu397Ter)
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>C rs62509015
NM_000277.3(PAH):c.1200-8G>A rs62507261
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro) rs79931499
NM_000277.3(PAH):c.1238_1241delinsCCTG (p.Arg413_Tyr414delinsProCys)
NM_000277.3(PAH):c.1315+2T>C rs1799970
NM_000277.3(PAH):c.1315+6T>A rs62508650
NM_000277.3(PAH):c.165del (p.Phe55fs) rs199475566
NM_000277.3(PAH):c.208_210del (p.Ser70del) rs62642094
NM_000277.3(PAH):c.266dup (p.Ala90fs) rs62506950
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) rs62508727
NM_000277.3(PAH):c.301G>A (p.Asp101Asn) rs1555207979
NM_000277.3(PAH):c.344_347del (p.Lys115fs) rs199475648
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.365C>A (p.Pro122Gln) rs199475622
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+2T>A rs1876618843
NM_000277.3(PAH):c.441+6T>A rs199475698
NM_000277.3(PAH):c.442-1G>A rs62514907
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer) rs62642906
NM_000277.3(PAH):c.498C>G (p.Tyr166Ter) rs199475645
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.503del (p.Tyr168fs) rs199475661
NM_000277.3(PAH):c.509+1G>A rs63102461
NM_000277.3(PAH):c.510T>A (p.His170Gln) rs199475652
NM_000277.3(PAH):c.510T>G (p.His170Gln) rs199475652
NM_000277.3(PAH):c.514C>T (p.Gln172Ter) rs199475588
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.580_581del (p.Leu194fs) rs62508587
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.612T>G (p.Tyr204Ter) rs62514928
NM_000277.3(PAH):c.618C>A (p.Tyr206Ter) rs62517201
NM_000277.3(PAH):c.632del (p.Pro211fs) rs62514929
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.648C>G (p.Tyr216Ter) rs62509013
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer) rs62514936
NM_000277.3(PAH):c.671T>C (p.Ile224Thr) rs62507323
NM_000277.3(PAH):c.691T>C (p.Ser231Pro) rs5030845
NM_000277.3(PAH):c.722G>A (p.Arg241His) rs62508730
NM_000277.3(PAH):c.722_735delinsCCTCCGACCTGTA (p.Arg241fs) rs2136646367
NM_000277.3(PAH):c.722del (p.Arg241fs) rs199475657
NM_000277.3(PAH):c.733G>C (p.Val245Leu) rs62508694
NM_000277.3(PAH):c.733_735delinsCTA (p.Val245Leu)
NM_000277.3(PAH):c.740G>T (p.Gly247Val) rs199475579
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000277.3(PAH):c.770G>T (p.Gly257Val) rs62642908
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.810A>T (p.Arg270Ser) rs62514951
NM_000277.3(PAH):c.822_832del (p.Lys274fs) rs199475581
NM_000277.3(PAH):c.824C>G (p.Pro275Arg) rs62508715
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.844G>A (p.Asp282Asn) rs199475582
NM_000277.3(PAH):c.856G>A (p.Glu286Lys) rs62508739
NM_000277.3(PAH):c.910C>T (p.Gln304Ter) rs1555204295

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