ClinVar Miner

List of variants in gene ALPL reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 236
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HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00016
NM_000478.6(ALPL):c.436G>A (p.Glu146Lys) rs138587317 0.00015
NM_000478.6(ALPL):c.575T>C (p.Met192Thr) rs765011829 0.00007
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala) rs121918002 0.00007
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser) rs149889416 0.00004
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr) rs199669988 0.00004
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010 0.00004
NM_000478.6(ALPL):c.1120G>A (p.Val374Met) rs552831415 0.00003
NM_000478.6(ALPL):c.673T>C (p.Tyr225His) rs759125473 0.00003
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys) rs121918017 0.00003
NM_000478.6(ALPL):c.1348C>T (p.Arg450Cys) rs138690664 0.00002
NM_000478.6(ALPL):c.303C>A (p.Tyr101Ter) rs746273959 0.00002
NM_000478.6(ALPL):c.484G>A (p.Gly162Ser) rs760029254 0.00002
NM_000478.6(ALPL):c.655A>G (p.Met219Val) rs772432010 0.00002
NM_000478.6(ALPL):c.657G>T (p.Met219Ile) rs776117933 0.00002
NM_000478.6(ALPL):c.667C>T (p.Arg223Trp) rs766076920 0.00002
NM_000478.6(ALPL):c.677T>C (p.Met226Thr) rs752641050 0.00002
NM_000478.6(ALPL):c.815G>A (p.Arg272His) rs781272386 0.00002
NM_000478.6(ALPL):c.876_881del (p.Gly293_Asp294del) rs1360625972 0.00002
NM_000478.6(ALPL):c.1022A>G (p.His341Arg) rs1382219911 0.00001
NM_000478.6(ALPL):c.1130C>T (p.Ala377Val) rs756418235 0.00001
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val) rs121918008 0.00001
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys) rs371243939 0.00001
NM_000478.6(ALPL):c.1172G>A (p.Arg391His) rs1442918125 0.00001
NM_000478.6(ALPL):c.1182dup (p.Ile395fs) rs754826836 0.00001
NM_000478.6(ALPL):c.1183A>G (p.Ile395Val) rs772682471 0.00001
NM_000478.6(ALPL):c.1190G>A (p.Gly397Asp) rs1400042777 0.00001
NM_000478.6(ALPL):c.119C>T (p.Ala40Val) rs770093969 0.00001
NM_000478.6(ALPL):c.1282C>T (p.Arg428Ter) rs759017288 0.00001
NM_000478.6(ALPL):c.1354G>A (p.Glu452Lys) rs966212736 0.00001
NM_000478.6(ALPL):c.1375G>A (p.Val459Met) rs1054159992 0.00001
NM_000478.6(ALPL):c.1402G>A (p.Ala468Thr) rs1196976671 0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) rs766656419 0.00001
NM_000478.6(ALPL):c.1444C>A (p.His482Asn) rs780857373 0.00001
NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg) rs1413274209 0.00001
NM_000478.6(ALPL):c.1559del (p.Leu520fs) rs387906525 0.00001
NM_000478.6(ALPL):c.212G>A (p.Arg71His) rs121918003 0.00001
NM_000478.6(ALPL):c.215T>C (p.Ile72Thr) rs781264043 0.00001
NM_000478.6(ALPL):c.227A>G (p.Gln76Arg) rs1057521085 0.00001
NM_000478.6(ALPL):c.283G>A (p.Val95Met) rs139811782 0.00001
NM_000478.6(ALPL):c.299C>T (p.Thr100Met) rs1201942473 0.00001
NM_000478.6(ALPL):c.331G>A (p.Ala111Thr) rs773257111 0.00001
NM_000478.6(ALPL):c.350A>G (p.Tyr117Cys) rs1374504617 0.00001
NM_000478.6(ALPL):c.459G>A (p.Trp153Ter) rs761836226 0.00001
NM_000478.6(ALPL):c.530C>T (p.Ala177Val) rs1114167438 0.00001
NM_000478.6(ALPL):c.532T>C (p.Tyr178His) rs1215600806 0.00001
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr) rs121918000 0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449 0.00001
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) rs763159520 0.00001
NM_000478.6(ALPL):c.648+1G>A rs749544042 0.00001
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln) rs199665722 0.00001
NM_000478.6(ALPL):c.791A>G (p.Lys264Arg) rs786204442 0.00001
NM_000478.6(ALPL):c.809G>A (p.Trp270Ter) rs786204634 0.00001
NM_000478.6(ALPL):c.814C>T (p.Arg272Cys) rs121918020 0.00001
NM_000478.6(ALPL):c.88C>T (p.Arg30Ter) rs1057516334 0.00001
NM_000478.6(ALPL):c.920C>T (p.Pro307Leu) rs768555495 0.00001
NM_000478.6(ALPL):c.931G>A (p.Glu311Lys) rs763457259 0.00001
NM_000478.6(ALPL):c.98C>T (p.Ala33Val) rs121918005 0.00001
NM_000478.6(ALPL):c.994G>T (p.Glu332Ter) rs768976020 0.00001
NM_000478.6(ALPL):c.997+1G>T rs1292415045 0.00001
NM_000478.6(ALPL):c.997+2T>A rs1057517391 0.00001
NC_000001.10:g.(21836011_21880470)_(21880636_21887118)del
NC_000001.10:g.(?_21880565)_(21904151_?)del
NC_000001.10:g.(?_21887099)_(21904141_?)del
NC_000001.10:g.(?_21887109)_(21887715_?)del
NC_000001.10:g.(?_21896788)_(21896877_?)del
NC_000001.10:g.(?_21900138)_(21900312_?)del
NC_000001.11:g.(?_21554072)_(21554152_?)del
NC_000001.11:g.(?_21560626)_(21564216_?)del
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly) rs1219494274
NM_000478.6(ALPL):c.1015G>A (p.Gly339Arg) rs2148189619
NM_000478.6(ALPL):c.1016G>A (p.Gly339Glu)
NM_000478.6(ALPL):c.1017dup (p.His340fs) rs764908423
NM_000478.6(ALPL):c.1023T>A (p.His341Gln) rs1280398041
NM_000478.6(ALPL):c.1034C>T (p.Ala345Val) rs1644719715
NM_000478.6(ALPL):c.1039C>T (p.Gln347Ter) rs1553414560
NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr) rs1553414563
NM_000478.6(ALPL):c.1077C>G (p.Ile359Met) rs567349821
NM_000478.6(ALPL):c.1078_1081dup (p.Gln361fs) rs1172381352
NM_000478.6(ALPL):c.1088_1091dup (p.Ser364fs) rs1057517322
NM_000478.6(ALPL):c.1098CTC[1] (p.Ser368del) rs1558557341
NM_000478.6(ALPL):c.1114_1115del (p.Leu372fs) rs1553414600
NM_000478.6(ALPL):c.1132G>C (p.Asp378His) rs1553414611
NM_000478.6(ALPL):c.1142A>G (p.His381Arg) rs1558557428
NM_000478.6(ALPL):c.1144G>A (p.Val382Ile) rs771540767
NM_000478.6(ALPL):c.1162T>C (p.Tyr388His) rs1644722881
NM_000478.6(ALPL):c.1164C>A (p.Tyr388Ter) rs2148190118
NM_000478.6(ALPL):c.1171del (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.1171dup (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.1184T>C (p.Ile395Thr)
NM_000478.6(ALPL):c.1185_1188del (p.Ile395fs)
NM_000478.6(ALPL):c.1190-2A>T rs1644739549
NM_000478.6(ALPL):c.1214_1215del (p.Thr405fs)
NM_000478.6(ALPL):c.1228T>C (p.Phe410Leu) rs1644740176
NM_000478.6(ALPL):c.1231A>G (p.Thr411Ala) rs2148192403
NM_000478.6(ALPL):c.1240C>A (p.Leu414Met) rs2148192444
NM_000478.6(ALPL):c.1257dup (p.Gly420fs)
NM_000478.6(ALPL):c.1259G>C (p.Gly420Ala)
NM_000478.6(ALPL):c.1268T>C (p.Val423Ala) rs2148192552
NM_000478.6(ALPL):c.1276G>A (p.Gly426Ser) rs770548228
NM_000478.6(ALPL):c.1277G>A (p.Gly426Asp)
NM_000478.6(ALPL):c.1283G>A (p.Arg428Gln)
NM_000478.6(ALPL):c.1283G>C (p.Arg428Pro) rs1644741201
NM_000478.6(ALPL):c.1286_1299dup (p.Val434fs) rs2148192656
NM_000478.6(ALPL):c.129del (p.Gln44fs) rs763244290
NM_000478.6(ALPL):c.1302_1306dup (p.Tyr436fs)
NM_000478.6(ALPL):c.1306T>C (p.Tyr436His) rs121918006
NM_000478.6(ALPL):c.130C>T (p.Gln44Ter) rs1057516293
NM_000478.6(ALPL):c.1328C>T (p.Ala443Val) rs768053120
NM_000478.6(ALPL):c.1361del (p.His454fs)
NM_000478.6(ALPL):c.1362_1399del (p.Gly456fs)
NM_000478.6(ALPL):c.1364G>A (p.Gly455Asp) rs1289406215
NM_000478.6(ALPL):c.1366G>A (p.Gly456Arg) rs121918016
NM_000478.6(ALPL):c.1367G>C (p.Gly456Ala) rs1644753808
NM_000478.6(ALPL):c.1375G>T (p.Val459Leu) rs1054159992
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser) rs1644755212
NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys) rs1057517173
NM_000478.6(ALPL):c.1427A>C (p.Glu476Ala) rs2148195004
NM_000478.6(ALPL):c.1429C>A (p.Gln477Lys)
NM_000478.6(ALPL):c.1429C>T (p.Gln477Ter)
NM_000478.6(ALPL):c.1435del (p.Tyr479fs)
NM_000478.6(ALPL):c.1460C>T (p.Ala487Val) rs1229517379
NM_000478.6(ALPL):c.146A>G (p.Asn49Ser)
NM_000478.6(ALPL):c.1474del (p.Ala492fs) rs1558558976
NM_000478.6(ALPL):c.1479C>A (p.Asn493Lys) rs759758484
NM_000478.6(ALPL):c.1483G>A (p.Gly495Ser) rs761079751
NM_000478.6(ALPL):c.1532_1533insC (p.Leu512fs)
NM_000478.6(ALPL):c.1553_1568del (p.Tyr518fs) rs772638759
NM_000478.6(ALPL):c.178G>C (p.Asp60His) rs1644472852
NM_000478.6(ALPL):c.182-2A>G rs2148152217
NM_000478.6(ALPL):c.18del (p.Val7fs) rs1558543066
NM_000478.6(ALPL):c.1A>G (p.Met1Val) rs2148135255
NM_000478.6(ALPL):c.203C>T (p.Thr68Met) rs1644478533
NM_000478.6(ALPL):c.211C>A (p.Arg71Ser)
NM_000478.6(ALPL):c.211C>G (p.Arg71Gly)
NM_000478.6(ALPL):c.211C>T (p.Arg71Cys) rs121918001
NM_000478.6(ALPL):c.212G>C (p.Arg71Pro) rs121918003
NM_000478.6(ALPL):c.21_32delinsGTGT (p.Leu8fs) rs1644366950
NM_000478.6(ALPL):c.223G>A (p.Gly75Ser) rs1304394441
NM_000478.6(ALPL):c.225_228dup (p.Leu77fs) rs1553411920
NM_000478.6(ALPL):c.247G>T (p.Glu83Ter) rs2148152544
NM_000478.6(ALPL):c.262G>A (p.Glu88Lys) rs1045735640
NM_000478.6(ALPL):c.298-1G>A
NM_000478.6(ALPL):c.299_300insT (p.Tyr101fs)
NM_000478.6(ALPL):c.318G>C (p.Gln106His) rs1553412268
NM_000478.6(ALPL):c.323C>T (p.Pro108Leu) rs121918015
NM_000478.6(ALPL):c.334G>A (p.Gly112Ser) rs1384701659
NM_000478.6(ALPL):c.335G>C (p.Gly112Ala) rs2148158307
NM_000478.6(ALPL):c.335_340dup (p.Gly112_Thr113dup) rs931041761
NM_000478.6(ALPL):c.340G>A (p.Ala114Thr) rs1320839573
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) rs121918013
NM_000478.6(ALPL):c.350_355del (p.Tyr117_Leu118del)
NM_000478.6(ALPL):c.360_361del (p.Val121fs) rs751994699
NM_000478.6(ALPL):c.368C>A (p.Ala123Asp) rs1188506084
NM_000478.6(ALPL):c.382G>A (p.Val128Met)
NM_000478.6(ALPL):c.388del (p.Gly129_Val130insTer)
NM_000478.6(ALPL):c.388dup (p.Val130fs) rs1644509908
NM_000478.6(ALPL):c.392del (p.Ser131fs) rs1553412310
NM_000478.6(ALPL):c.3G>C (p.Met1Ile)
NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His) rs786204530
NM_000478.6(ALPL):c.406C>T (p.Arg136Cys) rs747762186
NM_000478.6(ALPL):c.412del (p.Arg138fs) rs1312528958
NM_000478.6(ALPL):c.412dup (p.Arg138fs)
NM_000478.6(ALPL):c.422C>A (p.Thr141Asn) rs916300043
NM_000478.6(ALPL):c.427del (p.Gln143fs) rs760134827
NM_000478.6(ALPL):c.443C>T (p.Thr148Ile)
NM_000478.6(ALPL):c.46_49del (p.Asn16fs) rs1057516230
NM_000478.6(ALPL):c.472+5G>C rs1558549099
NM_000478.6(ALPL):c.480del (p.Val161fs) rs1644527306
NM_000478.6(ALPL):c.485G>T (p.Gly162Val) rs121918012
NM_000478.6(ALPL):c.500C>T (p.Thr167Met) rs1408325840
NM_000478.6(ALPL):c.512A>G (p.His171Arg)
NM_000478.6(ALPL):c.518C>T (p.Thr173Ile)
NM_000478.6(ALPL):c.522del (p.Ser175fs) rs750174638
NM_000478.6(ALPL):c.534C>A (p.Tyr178Ter) rs201250289
NM_000478.6(ALPL):c.534C>G (p.Tyr178Ter)
NM_000478.6(ALPL):c.551G>A (p.Arg184Gln) rs1558549798
NM_000478.6(ALPL):c.558G>A (p.Trp186Ter) rs2148161624
NM_000478.6(ALPL):c.561C>A (p.Tyr187Ter)
NM_000478.6(ALPL):c.568_570del (p.Asn190del) rs1644529451
NM_000478.6(ALPL):c.571G>T (p.Glu191Ter) rs121918007
NM_000478.6(ALPL):c.572A>G (p.Glu191Gly) rs1644529717
NM_000478.6(ALPL):c.581_582del (p.Pro194fs)
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro) rs121918004
NM_000478.6(ALPL):c.648+1G>T
NM_000478.6(ALPL):c.649_650insC (p.Val217fs)
NM_000478.6(ALPL):c.649_650insCTA (p.Val217delinsAlaMet)
NM_000478.6(ALPL):c.650delinsCTAA (p.Val217delinsAlaLys) rs1553413155
NM_000478.6(ALPL):c.658G>A (p.Gly220Arg) rs747488546
NM_000478.6(ALPL):c.659G>C (p.Gly220Ala) rs1644592603
NM_000478.6(ALPL):c.659G>T (p.Gly220Val)
NM_000478.6(ALPL):c.661G>C (p.Gly221Arg) rs769020799
NM_000478.6(ALPL):c.662del (p.Gly221fs) rs769948289
NM_000478.6(ALPL):c.662dup (p.Gly222fs) rs769948289
NM_000478.6(ALPL):c.670A>G (p.Lys224Glu) rs1226800998
NM_000478.6(ALPL):c.681C>A (p.Tyr227Ter)
NM_000478.6(ALPL):c.707A>G (p.Tyr236Cys)
NM_000478.6(ALPL):c.715del (p.Asp239fs) rs1644593994
NM_000478.6(ALPL):c.738G>T (p.Arg246Ser) rs1223142821
NM_000478.6(ALPL):c.746G>T (p.Gly249Val) rs121918018
NM_000478.6(ALPL):c.756_757insCC (p.Val253fs)
NM_000478.6(ALPL):c.768G>A (p.Trp256Ter)
NM_000478.6(ALPL):c.784A>T (p.Arg262Ter)
NM_000478.6(ALPL):c.793del (p.His265fs)
NM_000478.6(ALPL):c.814del (p.Arg272fs)
NM_000478.6(ALPL):c.815G>T (p.Arg272Leu) rs781272386
NM_000478.6(ALPL):c.822_823del (p.Glu274fs)
NM_000478.6(ALPL):c.824T>C (p.Leu275Pro) rs1237252052
NM_000478.6(ALPL):c.841del (p.His281fs) rs1057516526
NM_000478.6(ALPL):c.855C>G (p.Tyr285Ter)
NM_000478.6(ALPL):c.863-147_884del
NM_000478.6(ALPL):c.871G>A (p.Glu291Lys) rs786204473
NM_000478.6(ALPL):c.871G>T (p.Glu291Ter)
NM_000478.6(ALPL):c.874C>A (p.Pro292Thr) rs765458125
NM_000478.6(ALPL):c.874C>T (p.Pro292Ser)
NM_000478.6(ALPL):c.880del (p.Asp294fs)
NM_000478.6(ALPL):c.886C>T (p.Gln296Ter) rs2148184336
NM_000478.6(ALPL):c.891C>A (p.Tyr297Ter) rs755529290
NM_000478.6(ALPL):c.891C>G (p.Tyr297Ter)
NM_000478.6(ALPL):c.896T>C (p.Leu299Pro) rs2148184404
NM_000478.6(ALPL):c.923C>G (p.Ser308Ter) rs376221105
NM_000478.6(ALPL):c.928_929del (p.Ser310fs) rs1057516702
NM_000478.6(ALPL):c.930del (p.Glu311fs)
NM_000478.6(ALPL):c.94C>T (p.Gln32Ter) rs1209147330
NM_000478.6(ALPL):c.963del (p.Lys322fs) rs1553414133
NM_000478.6(ALPL):c.976G>C (p.Gly326Arg) rs1644687066
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del) rs753338851
NM_000478.6(ALPL):c.980T>G (p.Phe327Cys) rs779832611
NM_000478.6(ALPL):c.981C>G (p.Phe327Leu)
NM_000478.6(ALPL):c.997+2T>G rs1057517391
NM_000478.6(ALPL):c.997G>T (p.Gly333Ter) rs2148184880
NM_001177520.3(ALPL):c.66+353dup rs1553411890

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