ClinVar Miner

List of variants in gene ENG

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 292
Download table as spreadsheet
HGVS dbSNP
ENG, 2-BP DEL, NT1153
ENG, 39-BP DEL, NT882
NC_000009.11:g.(?_130586563)_(130587273_?)del
NC_000009.11:g.(?_130586563)_(130592126_?)del
NC_000009.11:g.(?_130586563)_(130592126_?)dup
NC_000009.11:g.(?_130586563)_(130616761_?)del
NC_000009.11:g.(?_130586573)_(130592116_?)dup
NC_000009.11:g.(?_130591960)_(130592112_?)del
NC_000009.11:g.(?_130605367)_(130605530_?)del
NC_000009.11:g.(?_130605373)_(130605524_?)del
NC_000009.11:g.(?_130605373)_(130605524_?)dup
NC_000009.11:g.(?_130616548)_(130616761_?)del
NC_000009.11:g.(?_130616558)_(130616761_?)del
NM_000118.3(ENG):c.*368C>T rs539680928
NM_000118.3(ENG):c.*385C>A rs886063475
NM_000118.3(ENG):c.*487C>A rs886063474
NM_000118.3(ENG):c.*501G>A rs764451017
NM_000118.3(ENG):c.*508A>C rs138178682
NM_000118.3(ENG):c.*700_*703delAACT rs41514846
NM_000118.3(ENG):c.*726C>T rs190129922
NM_000118.3(ENG):c.*758A>G rs72616667
NM_000118.3(ENG):c.-115G>C rs546892762
NM_000118.3(ENG):c.-120G>T rs565259710
NM_000118.3(ENG):c.-127C>T rs1060501408
NM_000118.3(ENG):c.-158C>T rs41470844
NM_000118.3(ENG):c.-186G>A rs569618819
NM_000118.3(ENG):c.-188G>A rs961480381
NM_000118.3(ENG):c.-246T>C rs886063478
NM_000118.3(ENG):c.-289A>C rs538284289
NM_000118.3(ENG):c.-289A>T rs538284289
NM_000118.3(ENG):c.-338G>A rs534779092
NM_000118.3(ENG):c.-339C>T rs554349374
NM_000118.3(ENG):c.-343C>T rs543301425
NM_000118.3(ENG):c.-395C>A rs886063479
NM_000118.3(ENG):c.-54C>A rs2296702
NM_000118.3(ENG):c.-63C>T rs886063476
NM_000118.3(ENG):c.-70del rs886063477
NM_000118.3(ENG):c.-79C>T rs1564466502
NM_000118.3(ENG):c.-8_8del (p.Met1fs)
NM_000118.3(ENG):c.-98G>A rs923040659
NM_000118.3(ENG):c.-9G>A rs368423516
NM_000118.3(ENG):c.1014C>T (p.Pro338=) rs1057522787
NM_000118.3(ENG):c.1015G>A (p.Ala339Thr)
NM_000118.3(ENG):c.1015_1024del (p.Ala339fs) rs1554810066
NM_000118.3(ENG):c.1019C>T (p.Pro340Leu) rs772135786
NM_000118.3(ENG):c.1020G>A (p.Pro340=) rs773748110
NM_000118.3(ENG):c.1024C>T (p.Gln342Ter) rs774429348
NM_000118.3(ENG):c.1029C>T (p.Thr343=) rs3739817
NM_000118.3(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs) rs1064792934
NM_000118.3(ENG):c.1036C>T (p.Pro346Ser) rs1554810062
NM_000118.3(ENG):c.1047T>C (p.Thr349=) rs1554810058
NM_000118.3(ENG):c.1055C>T (p.Pro352Leu)
NM_000118.3(ENG):c.1056G>A (p.Pro352=) rs769530262
NM_000118.3(ENG):c.1060C>T (p.Leu354=) rs36092484
NM_000118.3(ENG):c.1067T>A (p.Met356Lys) rs138190783
NM_000118.3(ENG):c.1080_1083del (p.Thr361fs) rs863223540
NM_000118.3(ENG):c.1084_1085del (p.Lys362fs) rs1554810051
NM_000118.3(ENG):c.1088G>C (p.Cys363Ser)
NM_000118.3(ENG):c.1089T>G (p.Cys363Trp) rs777177134
NM_000118.3(ENG):c.1095C>T (p.Asp365=) rs142803546
NM_000118.3(ENG):c.1096G>C (p.Asp366His) rs1800956
NM_000118.3(ENG):c.1098C>T (p.Asp366=) rs201497772
NM_000118.3(ENG):c.1110G>A (p.Leu370=)
NM_000118.3(ENG):c.1111dup (p.Val371fs) rs1554810041
NM_000118.3(ENG):c.1117_1120AAGA[1] (p.Lys374fs) rs1064793734
NM_000118.3(ENG):c.1122_1123AG[1] (p.Glu375fs) rs1554810037
NM_000118.3(ENG):c.112G>A (p.Glu38Lys)
NM_000118.3(ENG):c.1133C>T (p.Ala378Val) rs143054595
NM_000118.3(ENG):c.1134G>A (p.Ala378=) rs1329127701
NM_000118.3(ENG):c.119del (p.Gly40fs) rs369596004
NM_000118.3(ENG):c.120C>T (p.Gly40=) rs41522944
NM_000118.3(ENG):c.121G>A (p.Glu41Lys) rs199675436
NM_000118.3(ENG):c.130T>G (p.Tyr44Asp) rs1554812271
NM_000118.3(ENG):c.137C>T (p.Thr46Ile) rs1393437924
NM_000118.3(ENG):c.145G>T (p.Val49Phe) rs1252348200
NM_000118.3(ENG):c.14C>T (p.Thr5Met) rs35400405
NM_000118.3(ENG):c.150G>A (p.Ser50=) rs377129516
NM_000118.3(ENG):c.155G>A (p.Gly52Asp) rs1564462765
NM_000118.3(ENG):c.158G>A (p.Cys53Tyr) rs187643086
NM_000118.3(ENG):c.158G>C (p.Cys53Ser) rs187643086
NM_000118.3(ENG):c.159C>T (p.Cys53=) rs148475405
NM_000118.3(ENG):c.166C>T (p.Gln56Ter)
NM_000118.3(ENG):c.1762G>A (p.Val588Ile) rs201768056
NM_000118.3(ENG):c.1770C>T (p.Pro590=) rs370943570
NM_000118.3(ENG):c.1780G>A (p.Gly594Ser) rs1060501409
NM_000118.3(ENG):c.1794T>C (p.Gly598=) rs41358947
NM_000118.3(ENG):c.179_180delinsAA (p.Ala60Glu) rs1060504230
NM_000118.3(ENG):c.1804del (p.Ile602fs) rs1085307435
NM_000118.3(ENG):c.1806C>T (p.Ile602=) rs373002544
NM_000118.3(ENG):c.1844C>G (p.Ser615Trp) rs148002300
NM_000118.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_000118.3(ENG):c.1845G>T (p.Ser615=) rs759950184
NM_000118.3(ENG):c.185T>A (p.Leu62His) rs1060501424
NM_000118.3(ENG):c.1873C>G (p.Gln625Glu)
NM_000118.3(ENG):c.1A>C (p.Met1Leu)
NM_000118.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_000118.3(ENG):c.207G>A (p.Leu69=) rs11545664
NM_000118.3(ENG):c.217A>G (p.Thr73Ala) rs1472137141
NM_000118.3(ENG):c.219+1G>A rs1554812253
NM_000118.3(ENG):c.219+22C>T rs370257876
NM_000118.3(ENG):c.219+259dup
NM_000118.3(ENG):c.219+25G>T rs7847860
NM_000118.3(ENG):c.219+3G>A rs1419279746
NM_000118.3(ENG):c.219+5G>C rs1554812252
NM_000118.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_000118.3(ENG):c.220-1G>A rs1554810936
NM_000118.3(ENG):c.220-6C>A rs756342212
NM_000118.3(ENG):c.224del (p.Pro75fs) rs1554810932
NM_000118.3(ENG):c.225G>A (p.Pro75=) rs116146060
NM_000118.3(ENG):c.229C>T (p.Gln77Ter)
NM_000118.3(ENG):c.229del (p.Gln77fs) rs1554810928
NM_000118.3(ENG):c.232C>T (p.Leu78=) rs1060504229
NM_000118.3(ENG):c.234G>A (p.Leu78=) rs115675061
NM_000118.3(ENG):c.23T>C (p.Leu8Pro) rs1564466414
NM_000118.3(ENG):c.244del (p.Leu82fs) rs1554810921
NM_000118.3(ENG):c.247C>T (p.Gln83Ter) rs863223532
NM_000118.3(ENG):c.259C>T (p.Gln87Ter) rs730880096
NM_000118.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_000118.3(ENG):c.280G>T (p.Glu94Ter)
NM_000118.3(ENG):c.291G>C (p.Leu97=) rs376641299
NM_000118.3(ENG):c.2T>C (p.Met1Thr) rs267606783
NM_000118.3(ENG):c.2T>G (p.Met1Arg) rs267606783
NM_000118.3(ENG):c.310A>G (p.Ser104Gly) rs757343854
NM_000118.3(ENG):c.314T>A (p.Val105Asp)
NM_000118.3(ENG):c.321G>T (p.Leu107=) rs767907933
NM_000118.3(ENG):c.321_322delinsTT (p.His108Tyr) rs1060501425
NM_000118.3(ENG):c.322C>T (p.His108Tyr) rs756897517
NM_000118.3(ENG):c.348G>A (p.Leu116=) rs1205469132
NM_000118.3(ENG):c.350A>C (p.His117Pro)
NM_000118.3(ENG):c.360+1G>A rs886039505
NM_000118.3(ENG):c.360+21C>T rs41355248
NM_000118.3(ENG):c.360+4A>G rs1564457752
NM_000118.3(ENG):c.360+5G>C rs1060501417
NM_000118.3(ENG):c.360C>A (p.Tyr120Ter) rs121918402
NM_000118.3(ENG):c.360C>T (p.Tyr120=) rs121918402
NM_000118.3(ENG):c.361-12_361-11del rs781079790
NM_000118.3(ENG):c.374T>A (p.Val125Asp) rs750115837
NM_000118.3(ENG):c.374T>C (p.Val125Ala) rs750115837
NM_000118.3(ENG):c.388C>T (p.Pro130Ser) rs199840979
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000118.3(ENG):c.392del (p.Pro131fs) rs1554810510
NM_000118.3(ENG):c.396_397delinsAA (p.Val133Ile) rs1554810507
NM_000118.3(ENG):c.397del (p.Val133fs)
NM_000118.3(ENG):c.408del (p.Glu137fs) rs1554810506
NM_000118.3(ENG):c.41T>C (p.Leu14Pro) rs1554813788
NM_000118.3(ENG):c.41_51del (p.Leu14fs) rs1564466393
NM_000118.3(ENG):c.444G>T (p.Glu148Asp) rs863223530
NM_000118.3(ENG):c.446G>A (p.Trp149Ter) rs863223534
NM_000118.3(ENG):c.447G>C (p.Trp149Cys) rs878853657
NM_000118.3(ENG):c.469del (p.Thr157fs) rs1554810494
NM_000118.3(ENG):c.488_491del (p.Asn163fs)
NM_000118.3(ENG):c.498G>C (p.Gln166His)
NM_000118.3(ENG):c.507C>T (p.Leu169=) rs750014839
NM_000118.3(ENG):c.511C>T (p.Arg171Ter) rs1554810490
NM_000118.3(ENG):c.512G>C (p.Arg171Pro) rs756980265
NM_000118.3(ENG):c.523G>T (p.Ala175Ser)
NM_000118.3(ENG):c.524-12G>A rs142841129
NM_000118.3(ENG):c.524-15C>T rs201463582
NM_000118.3(ENG):c.524-2A>G rs1060501414
NM_000118.3(ENG):c.524-30G>A rs41409546
NM_000118.3(ENG):c.526C>T (p.Gln176Ter) rs1131691674
NM_000118.3(ENG):c.534_536del (p.Leu179del)
NM_000118.3(ENG):c.539C>T (p.Ser180Phe) rs375025857
NM_000118.3(ENG):c.562C>T (p.Gln188Ter) rs863223537
NM_000118.3(ENG):c.562dup (p.Gln188fs)
NM_000118.3(ENG):c.565G>T (p.Asp189Tyr) rs147792018
NM_000118.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_000118.3(ENG):c.572del (p.Gly191fs) rs1564456374
NM_000118.3(ENG):c.574_580del (p.Arg192fs) rs1564456347
NM_000118.3(ENG):c.575G>A (p.Arg192His)
NM_000118.3(ENG):c.578C>T (p.Thr193Met) rs775442178
NM_000118.3(ENG):c.581_592del (p.Leu194_Arg197del) rs1554810408
NM_000118.3(ENG):c.583G>C (p.Glu195Gln) rs1255912441
NM_000118.3(ENG):c.583del (p.Glu195fs) rs1554810413
NM_000118.3(ENG):c.587G>A (p.Trp196Ter)
NM_000118.3(ENG):c.589C>T (p.Arg197Trp) rs780987528
NM_000118.3(ENG):c.593C>T (p.Pro198Leu)
NM_000118.3(ENG):c.593_594CG[3] (p.Thr200fs) rs1554810405
NM_000118.3(ENG):c.595C>T (p.Arg199Cys) rs752195587
NM_000118.3(ENG):c.596G>A (p.Arg199His) rs548424658
NM_000118.3(ENG):c.614G>A (p.Arg205Gln)
NM_000118.3(ENG):c.617G>C (p.Gly206Ala) rs201393380
NM_000118.3(ENG):c.621C>A (p.Cys207Ter) rs1440769928
NM_000118.3(ENG):c.627G>A (p.Leu209=) rs763087751
NM_000118.3(ENG):c.633C>T (p.Gly211=)
NM_000118.3(ENG):c.634G>A (p.Val212Met) rs370652082
NM_000118.3(ENG):c.636_639GGCC[1] (p.Gly214fs) rs864622666
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) rs150932144
NM_000118.3(ENG):c.659T>C (p.Ile220Thr)
NM_000118.3(ENG):c.662T>C (p.Leu221Pro) rs1554810378
NM_000118.3(ENG):c.67+1G>A rs1554813783
NM_000118.3(ENG):c.67+5G>A rs763111216
NM_000118.3(ENG):c.673C>G (p.Pro225Ala) rs1554810373
NM_000118.3(ENG):c.675G>A (p.Pro225=) rs757608428
NM_000118.3(ENG):c.67del (p.Ser23fs) rs878853658
NM_000118.3(ENG):c.68-1G>A rs878853659
NM_000118.3(ENG):c.68-215T>C
NM_000118.3(ENG):c.68-3C>G
NM_000118.3(ENG):c.68-4A>G rs1564462843
NM_000118.3(ENG):c.68-9C>G rs200772068
NM_000118.3(ENG):c.680A>G (p.His227Arg)
NM_000118.3(ENG):c.682_686del (p.Ser228fs) rs1085307430
NM_000118.3(ENG):c.683C>A (p.Ser228Ter) rs1452543778
NM_000118.3(ENG):c.686C>A (p.Ala229Asp) rs971190119
NM_000118.3(ENG):c.687C>T (p.Ala229=) rs376919650
NM_000118.3(ENG):c.689+1G>A
NM_000118.3(ENG):c.689+2T>C rs863223535
NM_000118.3(ENG):c.690-1G>A rs1554810272
NM_000118.3(ENG):c.690-2A>T rs1564455970
NM_000118.3(ENG):c.690-5C>T rs374628465
NM_000118.3(ENG):c.694C>T (p.Arg232Trp)
NM_000118.3(ENG):c.698C>T (p.Thr233Met) rs139767471
NM_000118.3(ENG):c.69T>C (p.Ser23=) rs202048202
NM_000118.3(ENG):c.706_708del (p.Val236del) rs1064794221
NM_000118.3(ENG):c.712del (p.Val238fs) rs886041548
NM_000118.3(ENG):c.713T>A (p.Val238Glu) rs1060501415
NM_000118.3(ENG):c.715G>T (p.Glu239Ter) rs1064794220
NM_000118.3(ENG):c.715dup (p.Glu239fs) rs1554810257
NM_000118.3(ENG):c.721_725del (p.Ser241fs) rs1064794219
NM_000118.3(ENG):c.722G>A (p.Ser241Asn) rs1060501411
NM_000118.3(ENG):c.726C>A (p.Cys242Ter) rs545465750
NM_000118.3(ENG):c.727G>A (p.Ala243Thr) rs761827492
NM_000118.3(ENG):c.732C>T (p.Pro244=) rs112262663
NM_000118.3(ENG):c.732dup (p.Gly245fs) rs1554810254
NM_000118.3(ENG):c.733G>A (p.Gly245Arg)
NM_000118.3(ENG):c.736del (p.Asp246fs) rs1554810249
NM_000118.3(ENG):c.741C>T (p.Leu247=) rs201457707
NM_000118.3(ENG):c.742G>A (p.Asp248Asn)
NM_000118.3(ENG):c.742_743insT (p.Asp248fs) rs1213847963
NM_000118.3(ENG):c.743del (p.Asp248fs)
NM_000118.3(ENG):c.752T>C (p.Leu251Pro) rs1554810243
NM_000118.3(ENG):c.753_781del (p.Ile252fs)
NM_000118.3(ENG):c.754A>T (p.Ile252Phe) rs377377549
NM_000118.3(ENG):c.760C>T (p.Gln254Ter) rs1554810234
NM_000118.3(ENG):c.765del (p.Tyr258fs) rs1554810232
NM_000118.3(ENG):c.771del (p.Tyr258fs)
NM_000118.3(ENG):c.774C>T (p.Tyr258=) rs537154767
NM_000118.3(ENG):c.776del (p.Val259fs)
NM_000118.3(ENG):c.780_789dup (p.Asp264fs)
NM_000118.3(ENG):c.781T>G (p.Trp261Gly) rs1554810223
NM_000118.3(ENG):c.782G>A (p.Trp261Ter) rs1060501420
NM_000118.3(ENG):c.782G>T (p.Trp261Leu) rs1060501420
NM_000118.3(ENG):c.788T>A (p.Ile263Asn) rs1085307431
NM_000118.3(ENG):c.799_804del (p.His267_Asn268del)
NM_000118.3(ENG):c.7C>G (p.Arg3Gly) rs139334561
NM_000118.3(ENG):c.7C>T (p.Arg3Cys) rs139334561
NM_000118.3(ENG):c.805A>G (p.Met269Val) rs1323617205
NM_000118.3(ENG):c.806T>C (p.Met269Thr)
NM_000118.3(ENG):c.808C>T (p.Gln270Ter) rs1554810215
NM_000118.3(ENG):c.815G>A (p.Trp272Ter)
NM_000118.3(ENG):c.816+1G>A rs111471193
NM_000118.3(ENG):c.816+6T>C rs759191907
NM_000118.3(ENG):c.816G>A (p.Trp272Ter) rs886041326
NM_000118.3(ENG):c.817-1G>C rs1564455715
NM_000118.3(ENG):c.817-8A>G rs753576292
NM_000118.3(ENG):c.818C>T (p.Thr273Ile) rs727503038
NM_000118.3(ENG):c.831C>A (p.Tyr277Ter)
NM_000118.3(ENG):c.831C>G (p.Tyr277Ter) rs121918400
NM_000118.3(ENG):c.839A>G (p.Lys280Arg)
NM_000118.3(ENG):c.850G>A (p.Glu284Lys) rs372045549
NM_000118.3(ENG):c.863G>A (p.Arg288His) rs770328302
NM_000118.3(ENG):c.880_881del (p.Asp294fs) rs886042916
NM_000118.3(ENG):c.884C>T (p.Thr295Ile)
NM_000118.3(ENG):c.88T>A (p.Cys30Ser) rs1564462834
NM_000118.3(ENG):c.895del (p.Leu299fs) rs1064795636
NM_000118.3(ENG):c.896_991+90del rs1554810125
NM_000118.3(ENG):c.899T>C (p.Leu300Pro) rs1335718486
NM_000118.3(ENG):c.900G>A (p.Leu300=) rs140155568
NM_000118.3(ENG):c.904G>T (p.Glu302Ter) rs1060501419
NM_000118.3(ENG):c.904dup (p.Glu302fs) rs1554810177
NM_000118.3(ENG):c.909C>T (p.Ala303=) rs200306464
NM_000118.3(ENG):c.911G>A (p.Arg304Gln) rs753429934
NM_000118.3(ENG):c.911_918del (p.Arg304fs) rs1564455604
NM_000118.3(ENG):c.920dup (p.Asn307fs) rs1554810174
NM_000118.3(ENG):c.954G>A (p.Pro318=) rs149590262
NM_000118.3(ENG):c.97C>T (p.Gln33Ter) rs1564462827
NM_000118.3(ENG):c.983_984delinsAG (p.Ser328Ter)
NM_000118.3(ENG):c.98A>C (p.Gln33Pro) rs863223531
NM_000118.3(ENG):c.98_101del (p.Gln33fs) rs1554812283
NM_000118.3(ENG):c.990C>T (p.Cys330=)
NM_000118.3(ENG):c.991+21_991+26dup rs148063362
NM_000118.3(ENG):c.991+2T>C rs1564455554
NM_000118.3(ENG):c.991+2T>G
NM_000118.3(ENG):c.991+58A>T rs12002508
NM_000118.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_000118.3(ENG):c.992-2A>G
NM_000118.3(ENG):c.999G>A (p.Arg333=) rs371174838
NM_001114753.2(ENG):c.1852+52G>C rs371104611
NM_001114753.2(ENG):c.1853G>T (p.Arg618Leu) rs1085307436
NM_001114753.2(ENG):c.1932C>T (p.Ile644=) rs181330955
NM_001114753.2(ENG):c.1961C>G (p.Thr654Ser) rs1050077
NM_001114753.2(ENG):c.1970T>C (p.Met657Thr) rs768873662

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