ClinVar Miner

List of variants reported as uncertain significance for Phenylketonuria by ClinGen PAH Variant Curation Expert Panel

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Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.*19G>T rs372637021 0.00103
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_000277.3(PAH):c.289A>C (p.Ile97Leu) rs142516271 0.00057
NM_000277.3(PAH):c.609C>T (p.Cys203=) rs1801147 0.00036
NM_000277.3(PAH):c.299A>G (p.His100Arg) rs148393887 0.00035
NM_000277.3(PAH):c.1161C>T (p.Tyr387=) rs149595475 0.00023
NM_000277.3(PAH):c.442-18G>A rs149538764 0.00014
NM_000277.3(PAH):c.280A>G (p.Ile94Val) rs528078207 0.00010
NM_000277.3(PAH):c.60+9C>T rs369454152 0.00009
NM_000277.3(PAH):c.1140G>A (p.Thr380=) rs373763334 0.00008
NM_000277.3(PAH):c.*144A>G rs375319584 0.00007
NM_000277.3(PAH):c.222A>G (p.Lys74=) rs374797155 0.00006
NM_000277.3(PAH):c.438C>T (p.His146=) rs191142120 0.00006
NM_000277.3(PAH):c.350C>T (p.Thr117Ile) rs281865439 0.00005
NM_000277.3(PAH):c.1002C>T (p.Cys334=) rs140243918 0.00004
NM_000277.3(PAH):c.1237C>T (p.Arg413Cys) rs62644467 0.00004
NM_000277.3(PAH):c.420G>A (p.Ala140=) rs200366386 0.00004
NM_000277.3(PAH):c.1066T>C (p.Tyr356His) rs62507320 0.00003
NM_000277.3(PAH):c.1065+39G>T rs62510582 0.00002
NM_000277.3(PAH):c.1136T>C (p.Val379Ala) rs746203167 0.00002
NM_000277.3(PAH):c.442-14C>T rs775806999 0.00002
NM_000277.3(PAH):c.870T>C (p.His290=) rs751203209 0.00002
NM_000277.3(PAH):c.1101G>A (p.Leu367=) rs62508648 0.00001
NM_000277.3(PAH):c.1124A>G (p.Gln375Arg) rs1874694173 0.00001
NM_000277.3(PAH):c.169G>A (p.Glu57Lys) rs140945592 0.00001
NM_000277.3(PAH):c.176A>T (p.Asp59Val) rs199475672 0.00001
NM_000277.3(PAH):c.198A>G (p.Glu66=) rs117308669 0.00001
NM_000277.3(PAH):c.307G>T (p.Gly103Cys) rs752792040 0.00001
NM_000277.3(PAH):c.310_318del (p.Ala104_Val106del) rs398123291 0.00001
NM_000277.3(PAH):c.441+4A>G rs62508586 0.00001
NM_000277.3(PAH):c.441T>C (p.Pro147=) rs1386014129 0.00001
NM_000277.3(PAH):c.499A>T (p.Asn167Tyr) rs1210056131 0.00001
NM_000277.3(PAH):c.59A>T (p.Gln20Leu) rs199475662 0.00001
NM_000277.3(PAH):c.737C>T (p.Ala246Val) rs199475610 0.00001
NM_000277.3(PAH):c.786C>T (p.Val262=) rs776860902 0.00001
NM_000277.3(PAH):c.789C>G (p.Phe263Leu) rs62642944 0.00001
NM_000277.3(PAH):c.793T>C (p.Cys265Arg) rs62517181 0.00001
NM_000277.3(PAH):c.811C>T (p.His271Tyr) rs62517164 0.00001
NM_000277.3(PAH):c.969+6T>A rs62517196 0.00001
NM_000277.3(PAH):c.970A>G (p.Ile324Val) rs1221031352 0.00001
NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer) rs281865431
NM_000277.3(PAH):c.1001G>C (p.Cys334Ser) rs62517174
NM_000277.3(PAH):c.1003A>G (p.Lys335Glu) rs886042068
NM_000277.3(PAH):c.1004A>C (p.Lys335Thr) rs281865434
NM_000277.3(PAH):c.1007A>G (p.Gln336Arg) rs62508735
NM_000277.3(PAH):c.1010G>T (p.Gly337Val) rs62517206
NM_000277.3(PAH):c.1019T>C (p.Ile340Thr) rs62508720
NM_000277.3(PAH):c.1022A>C (p.Lys341Thr) rs62516153
NM_000277.3(PAH):c.1022A>G (p.Lys341Arg) rs62516153
NM_000277.3(PAH):c.1030G>C (p.Gly344Arg) rs62508679
NM_000277.3(PAH):c.1031G>T (p.Gly344Val) rs62508582
NM_000277.3(PAH):c.1039C>T (p.Leu347Phe) rs62516154
NM_000277.3(PAH):c.1065+3A>C rs62508689
NM_000277.3(PAH):c.1065+7C>A rs62508639
NM_000277.3(PAH):c.1066-12del rs1874706297
NM_000277.3(PAH):c.1066-13T>G rs1435691439
NM_000277.3(PAH):c.1066-3C>G
NM_000277.3(PAH):c.1066T>G (p.Tyr356Asp) rs62507320
NM_000277.3(PAH):c.1089G>T (p.Lys363Asn) rs63329263
NM_000277.3(PAH):c.1096C>G (p.Pro366Ala)
NM_000277.3(PAH):c.1099C>G (p.Leu367Val) rs1565842281
NM_000277.3(PAH):c.1100T>C (p.Leu367Pro) rs62508574
NM_000277.3(PAH):c.1100T>G (p.Leu367Arg) rs62508574
NM_000277.3(PAH):c.1103A>G (p.Glu368Gly) rs2136635784
NM_000277.3(PAH):c.1112A>G (p.Lys371Arg) rs62507268
NM_000277.3(PAH):c.1132A>T (p.Thr378Ser) rs62642911
NM_000277.3(PAH):c.1150C>T (p.Pro384Ser) rs1555203677
NM_000277.3(PAH):c.1166C>A (p.Ala389Glu) rs1874688379
NM_000277.3(PAH):c.1166C>G (p.Ala389Gly) rs1874688379
NM_000277.3(PAH):c.1171A>G (p.Ser391Gly) rs281865453
NM_000277.3(PAH):c.1175T>C (p.Phe392Ser) rs199475695
NM_000277.3(PAH):c.1194A>C (p.Lys398Asn) rs199475638
NM_000277.3(PAH):c.1199+50G>A rs369574052
NM_000277.3(PAH):c.1204T>A (p.Phe402Ile) rs62508725
NM_000277.3(PAH):c.1204T>C (p.Phe402Leu) rs62508725
NM_000277.3(PAH):c.1204T>G (p.Phe402Val) rs62508725
NM_000277.3(PAH):c.1205T>G (p.Phe402Cys) rs1399587250
NM_000277.3(PAH):c.122T>C (p.Leu41Pro) rs62642916
NM_000277.3(PAH):c.1235T>G (p.Val412Gly) rs1874542925
NM_000277.3(PAH):c.1237C>G (p.Arg413Gly) rs62644467
NM_000277.3(PAH):c.1240T>C (p.Tyr414His) rs281865437
NM_000277.3(PAH):c.1246C>A (p.Pro416Thr) rs1874541064
NM_000277.3(PAH):c.1264G>A (p.Glu422Lys) rs199475621
NM_000277.3(PAH):c.1271T>C (p.Leu424Ser) rs199475670
NM_000277.3(PAH):c.1312A>G (p.Asn438Asp) rs1874535103
NM_000277.3(PAH):c.1315+5G>C rs1874533541
NM_000277.3(PAH):c.134T>C (p.Val45Ala) rs1592988883
NM_000277.3(PAH):c.168+5G>T rs62507288
NM_000277.3(PAH):c.168+6T>G rs62516144
NM_000277.3(PAH):c.168G>A (p.Glu56=) rs199475567
NM_000277.3(PAH):c.175G>T (p.Asp59Tyr) rs199475635
NM_000277.3(PAH):c.176A>G (p.Asp59Gly) rs199475672
NM_000277.3(PAH):c.184C>G (p.Leu62Val) rs1565866640
NM_000277.3(PAH):c.187A>C (p.Thr63Pro) rs199475568
NM_000277.3(PAH):c.190C>A (p.His64Asn) rs199475569
NM_000277.3(PAH):c.229T>C (p.Tyr77His)
NM_000277.3(PAH):c.232G>C (p.Glu78Gln) rs62507326
NM_000277.3(PAH):c.233A>T (p.Glu78Val) rs1877431301
NM_000277.3(PAH):c.284_285delinsCA (p.Ile95Thr) rs281865432
NM_000277.3(PAH):c.285C>T (p.Ile95=) rs1877427309
NM_000277.3(PAH):c.353-2059_353-1160del rs2136680756
NM_000277.3(PAH):c.353-7_353-5dup rs1452763334
NM_000277.3(PAH):c.361T>G (p.Phe121Val) rs1876627337
NM_000277.3(PAH):c.362T>C (p.Phe121Ser) rs1565859485
NM_000277.3(PAH):c.368G>T (p.Arg123Ile) rs199475681
NM_000277.3(PAH):c.379G>A (p.Glu127Lys) rs1555206565
NM_000277.3(PAH):c.380A>G (p.Glu127Gly) rs1876625601
NM_000277.3(PAH):c.386A>T (p.Asp129Val) rs199475623
NM_000277.3(PAH):c.411C>T (p.Ser137=) rs1801146
NM_000277.3(PAH):c.441+5G>A rs62507321
NM_000277.3(PAH):c.441+6T>C rs199475698
NM_000277.3(PAH):c.442G>C (p.Gly148Arg) rs80297647
NM_000277.3(PAH):c.456T>C (p.Pro152=) rs377244118
NM_000277.3(PAH):c.460T>A (p.Tyr154Asn) rs199475587
NM_000277.3(PAH):c.46T>C (p.Ser16Pro) rs62642946
NM_000277.3(PAH):c.470G>C (p.Arg157Thr) rs199475611
NM_000277.3(PAH):c.473G>C (p.Arg158Pro) rs5030843
NM_000277.3(PAH):c.47C>A (p.Ser16Tyr) rs1592991188
NM_000277.3(PAH):c.493G>C (p.Ala165Pro) rs199475626
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.506G>C (p.Arg169Pro) rs199475679
NM_000277.3(PAH):c.510-6T>G rs62507281
NM_000277.3(PAH):c.523C>G (p.Pro175Ala) rs199475604
NM_000277.3(PAH):c.568G>A (p.Val190Met) rs281865441
NM_000277.3(PAH):c.586T>A (p.Ser196Thr)
NM_000277.3(PAH):c.599C>A (p.Thr200Asn) rs2136649547
NM_000277.3(PAH):c.59A>C (p.Gln20Pro) rs199475662
NM_000277.3(PAH):c.60+5_60+6del rs1592991131
NM_000277.3(PAH):c.60G>C (p.Gln20His) rs199475688
NM_000277.3(PAH):c.61-3T>C rs1878260066
NM_000277.3(PAH):c.637C>T (p.Leu213Phe) rs1131691945
NM_000277.3(PAH):c.650G>A (p.Cys217Tyr) rs62508617
NM_000277.3(PAH):c.656T>C (p.Phe219Ser) rs1164279708
NM_000277.3(PAH):c.667A>T (p.Asn223Tyr) rs2136649290
NM_000277.3(PAH):c.682G>A (p.Glu228Lys) rs281865444
NM_000277.3(PAH):c.684A>C (p.Glu228Asp) rs2136649225
NM_000277.3(PAH):c.689T>G (p.Val230Gly) rs199475673
NM_000277.3(PAH):c.704A>C (p.Gln235Pro) rs199475656
NM_000277.3(PAH):c.706+5G>A rs1331362460
NM_000277.3(PAH):c.718T>G (p.Phe240Val) rs62507337
NM_000277.3(PAH):c.737C>A (p.Ala246Asp) rs199475610
NM_000277.3(PAH):c.740G>A (p.Gly247Asp) rs199475579
NM_000277.3(PAH):c.743T>C (p.Leu248Pro) rs62507340
NM_000277.3(PAH):c.743T>G (p.Leu248Arg) rs62507340
NM_000277.3(PAH):c.757G>A (p.Asp253Asn) rs765533320
NM_000277.3(PAH):c.781C>G (p.Arg261Gly) rs5030850
NM_000277.3(PAH):c.782G>T (p.Arg261Leu) rs5030849
NM_000277.3(PAH):c.791A>T (p.His264Leu) rs199475580
NM_000277.3(PAH):c.793T>G (p.Cys265Gly) rs62517181
NM_000277.3(PAH):c.800A>T (p.Gln267Leu) rs778154939
NM_000277.3(PAH):c.802T>C (p.Tyr268His) rs62507263
NM_000277.3(PAH):c.812A>T (p.His271Leu) rs199475692
NM_000277.3(PAH):c.817T>C (p.Ser273Pro) rs1565846754
NM_000277.3(PAH):c.828G>T (p.Met276Ile) rs62514954
NM_000277.3(PAH):c.842+4A>T rs1555204434
NM_000277.3(PAH):c.842+6T>A rs1592952773
NM_000277.3(PAH):c.843-13_843-10del rs2136645010
NM_000277.3(PAH):c.843-6T>C rs2136645004
NM_000277.3(PAH):c.843T>A (p.Pro281=)
NM_000277.3(PAH):c.853C>T (p.His285Tyr) rs199475636
NM_000277.3(PAH):c.864G>C (p.Leu288Phe) rs62507327
NM_000277.3(PAH):c.869A>G (p.His290Arg) rs62642919
NM_000277.3(PAH):c.869A>T (p.His290Leu) rs62642919
NM_000277.3(PAH):c.871G>T (p.Val291Leu) rs1875160008
NM_000277.3(PAH):c.886G>C (p.Asp296His) rs765934604
NM_000277.3(PAH):c.887A>G (p.Asp296Gly) rs281865446
NM_000277.3(PAH):c.895T>C (p.Phe299Leu) rs796064504
NM_000277.3(PAH):c.895_897del (p.Phe299del) rs62507267
NM_000277.3(PAH):c.896T>C (p.Phe299Ser) rs62642933
NM_000277.3(PAH):c.912+16T>A rs1875152576
NM_000277.3(PAH):c.912+3A>C rs281865450
NM_000277.3(PAH):c.913-3C>G rs281865451
NM_000277.3(PAH):c.913-8A>G rs281865452
NM_000277.3(PAH):c.934G>C (p.Gly312Arg) rs763115697
NM_000277.3(PAH):c.949T>C (p.Tyr317His) rs1874872863
NM_000277.3(PAH):c.968C>T (p.Thr323Ile) rs1874870478
NM_000277.3(PAH):c.969+4A>T rs2136639453
NM_000277.3(PAH):c.969+6T>C rs62517196
NM_000277.3(PAH):c.969A>G (p.Thr323=) rs199475637
NM_000277.3(PAH):c.970-6T>G rs62507274
NM_000277.3(PAH):c.970-7A>G rs745670264
NM_000277.3(PAH):c.977G>C (p.Trp326Ser) rs62514959
NM_000277.3(PAH):c.981T>G (p.Phe327Leu) rs199475642
NM_000277.3(PAH):c.983C>A (p.Thr328Asn) rs886042096
NM_000277.3(PAH):c.983C>T (p.Thr328Ile) rs886042096

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