ClinVar Miner

List of variants in gene ENG reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 278
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664 0.14184
NM_001114753.3(ENG):c.1029C>T (p.Thr343=) rs3739817 0.06792
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04608
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484 0.03618
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947 0.01435
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_001114753.3(ENG):c.1932C>T (p.Ile644=) rs181330955 0.00609
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944 0.00355
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956 0.00353
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300 0.00134
NM_001114753.3(ENG):c.732C>T (p.Pro244=) rs112262663 0.00124
NM_001114753.3(ENG):c.180C>A (p.Ala60=) rs146188464 0.00117
NM_001114753.3(ENG):c.225G>A (p.Pro75=) rs116146060 0.00091
NM_001114753.3(ENG):c.617G>C (p.Gly206Ala) rs201393380 0.00080
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_001114753.3(ENG):c.234G>A (p.Leu78=) rs115675061 0.00076
NM_001114753.3(ENG):c.159C>T (p.Cys53=) rs148475405 0.00056
NM_001114753.3(ENG):c.687C>T (p.Ala229=) rs376919650 0.00042
NM_001114753.3(ENG):c.-9G>A rs368423516 0.00040
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser) rs150932144 0.00034
NM_001114753.3(ENG):c.1095C>T (p.Asp365=) rs142803546 0.00026
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys) rs139334561 0.00024
NM_001114753.3(ENG):c.388C>T (p.Pro130Ser) rs199840979 0.00021
NM_001114753.3(ENG):c.250G>C (p.Ala84Pro) rs369456364 0.00019
NM_001114753.3(ENG):c.954G>A (p.Pro318=) rs149590262 0.00019
NM_001114753.3(ENG):c.694C>T (p.Arg232Trp) rs200372420 0.00014
NM_001114753.3(ENG):c.306C>T (p.Asn102=) rs148098047 0.00012
NM_001114753.3(ENG):c.726C>T (p.Cys242=) rs545465750 0.00012
NM_001114753.3(ENG):c.850G>A (p.Glu284Lys) rs372045549 0.00010
NM_001114753.3(ENG):c.1133C>T (p.Ala378Val) rs143054595 0.00009
NM_001114753.3(ENG):c.1098C>T (p.Asp366=) rs201497772 0.00008
NM_001114753.3(ENG):c.634G>A (p.Val212Met) rs370652082 0.00008
NM_001114753.3(ENG):c.690-4G>A rs762621671 0.00008
NM_001114753.3(ENG):c.121G>A (p.Glu41Lys) rs199675436 0.00007
NM_001114753.3(ENG):c.1762G>A (p.Val588Ile) rs201768056 0.00007
NM_001114753.3(ENG):c.218C>T (p.Thr73Met) rs200960408 0.00005
NM_001114753.3(ENG):c.654G>A (p.Ala218=) rs773156160 0.00005
NM_001114753.3(ENG):c.1761C>T (p.Leu587=) rs546872552 0.00004
NM_001114753.3(ENG):c.1851G>A (p.Thr617=) rs747344646 0.00004
NM_001114753.3(ENG):c.705G>A (p.Thr235=) rs755116051 0.00004
NM_001114753.3(ENG):c.9C>T (p.Arg3=) rs752431673 0.00004
NM_001114753.3(ENG):c.1093G>A (p.Asp365Asn) rs548690138 0.00003
NM_001114753.3(ENG):c.1134G>A (p.Ala378=) rs1329127701 0.00003
NM_001114753.3(ENG):c.405C>G (p.Thr135=) rs773521685 0.00003
NM_001114753.3(ENG):c.45C>G (p.Ala15=) rs768137759 0.00003
NM_001114753.3(ENG):c.999G>A (p.Arg333=) rs371174838 0.00003
NM_001114753.3(ENG):c.1806C>T (p.Ile602=) rs373002544 0.00002
NM_001114753.3(ENG):c.338G>A (p.Gly113Glu) rs1169024767 0.00002
NM_001114753.3(ENG):c.393G>A (p.Pro131=) rs760121099 0.00002
NM_001114753.3(ENG):c.990C>T (p.Cys330=) rs369202854 0.00002
NM_001114753.3(ENG):c.-10C>T rs756994701 0.00001
NM_001114753.3(ENG):c.1014C>T (p.Pro338=) rs1057522787 0.00001
NM_001114753.3(ENG):c.1056G>A (p.Pro352=) rs769530262 0.00001
NM_001114753.3(ENG):c.1058A>G (p.Glu353Gly) rs868730895 0.00001
NM_001114753.3(ENG):c.1092C>T (p.Ala364=) rs375427398 0.00001
NM_001114753.3(ENG):c.111C>T (p.Pro37=) rs755626994 0.00001
NM_001114753.3(ENG):c.524-2A>G rs1060501414 0.00001
NM_001114753.3(ENG):c.575G>A (p.Arg192His) rs1029569378 0.00001
NM_001114753.3(ENG):c.579G>A (p.Thr193=) rs769703434 0.00001
NM_001114753.3(ENG):c.582C>T (p.Leu194=) rs140663846 0.00001
NM_001114753.3(ENG):c.613C>T (p.Arg205Trp) rs762209698 0.00001
NM_001114753.3(ENG):c.675G>A (p.Pro225=) rs757608428 0.00001
NM_001114753.3(ENG):c.684G>A (p.Ser228=) rs368752783 0.00001
NM_001114753.3(ENG):c.691C>A (p.Pro231Thr) rs769339049 0.00001
NM_001114753.3(ENG):c.768C>T (p.Pro256=) rs780493782 0.00001
NM_001114753.3(ENG):c.786C>T (p.Leu262=) rs368800416 0.00001
NM_001114753.3(ENG):c.790G>A (p.Asp264Asn) rs1210433339 0.00001
NM_001114753.3(ENG):c.792C>T (p.Asp264=) rs763763510 0.00001
NM_001114753.3(ENG):c.831C>T (p.Tyr277=) rs121918400 0.00001
NM_001114753.3(ENG):c.943G>A (p.Val315Met) rs763508329 0.00001
NM_001114753.3(ENG):c.-127C>T rs1060501408
NM_001114753.3(ENG):c.-58G>A
NM_001114753.3(ENG):c.1002_1003delinsCT (p.Gln335Ter)
NM_001114753.3(ENG):c.1003C>T (p.Gln335Ter)
NM_001114753.3(ENG):c.1042_1054del (p.Asp348fs)
NM_001114753.3(ENG):c.1064T>C (p.Leu355Pro)
NM_001114753.3(ENG):c.1071_1080dup (p.Thr361fs)
NM_001114753.3(ENG):c.1077C>A (p.Ile359=) rs1830549327
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs) rs863223540
NM_001114753.3(ENG):c.1084_1085del (p.Lys362fs) rs1554810051
NM_001114753.3(ENG):c.1088G>A (p.Cys363Tyr)
NM_001114753.3(ENG):c.1088dup (p.Cys363fs)
NM_001114753.3(ENG):c.1099G>A (p.Ala367Thr)
NM_001114753.3(ENG):c.1099_1102del (p.Asp366_Ala367insTer)
NM_001114753.3(ENG):c.1104del (p.Met368fs)
NM_001114753.3(ENG):c.1109T>C (p.Leu370Pro)
NM_001114753.3(ENG):c.1120A>G (p.Lys374Glu)
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser) rs2131885751
NM_001114753.3(ENG):c.1121_1124del (p.Lys374fs) rs1064793734
NM_001114753.3(ENG):c.1122_1125del (p.Lys374fs)
NM_001114753.3(ENG):c.1130T>C (p.Val377Ala)
NM_001114753.3(ENG):c.1134+1G>T
NM_001114753.3(ENG):c.121G>T (p.Glu41Ter)
NM_001114753.3(ENG):c.145G>T (p.Val49Phe) rs1252348200
NM_001114753.3(ENG):c.154G>C (p.Gly52Arg)
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp) rs1564462765
NM_001114753.3(ENG):c.157T>C (p.Cys53Arg)
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter) rs148475405
NM_001114753.3(ENG):c.171C>T (p.Ala57=)
NM_001114753.3(ENG):c.1770C>T (p.Pro590=) rs370943570
NM_001114753.3(ENG):c.179_180delinsAA (p.Ala60Glu) rs1060504230
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg) rs1830302008
NM_001114753.3(ENG):c.1821T>C (p.Thr607=)
NM_001114753.3(ENG):c.1845G>T (p.Ser615=) rs759950184
NM_001114753.3(ENG):c.1857C>A (p.Ser619=)
NM_001114753.3(ENG):c.1860C>A (p.Pro620=)
NM_001114753.3(ENG):c.1868G>A (p.Arg623Gln)
NM_001114753.3(ENG):c.1883C>T (p.Ala628Val)
NM_001114753.3(ENG):c.1884G>A (p.Ala628=)
NM_001114753.3(ENG):c.1890T>G (p.Ala630=)
NM_001114753.3(ENG):c.1900T>G (p.Ser634Ala)
NM_001114753.3(ENG):c.1904C>T (p.Ser635Leu)
NM_001114753.3(ENG):c.1905G>A (p.Ser635=)
NM_001114753.3(ENG):c.1920C>G (p.Thr640=)
NM_001114753.3(ENG):c.1923C>T (p.Asn641=)
NM_001114753.3(ENG):c.1926C>T (p.His642=)
NM_001114753.3(ENG):c.1934G>C (p.Gly645Ala)
NM_001114753.3(ENG):c.1935G>A (p.Gly645=)
NM_001114753.3(ENG):c.1962C>A (p.Thr654=)
NM_001114753.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_001114753.3(ENG):c.205del (p.Leu69fs)
NM_001114753.3(ENG):c.219+1G>A rs1554812253
NM_001114753.3(ENG):c.219+2T>C rs2131918332
NM_001114753.3(ENG):c.219+5G>A rs1554812252
NM_001114753.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_001114753.3(ENG):c.224del (p.Pro75fs) rs1554810932
NM_001114753.3(ENG):c.229C>T (p.Gln77Ter) rs1588585997
NM_001114753.3(ENG):c.232C>T (p.Leu78=) rs1060504229
NM_001114753.3(ENG):c.235G>T (p.Glu79Ter) rs763992842
NM_001114753.3(ENG):c.238C>T (p.Leu80=)
NM_001114753.3(ENG):c.239T>A (p.Leu80Gln)
NM_001114753.3(ENG):c.239del (p.Leu80fs)
NM_001114753.3(ENG):c.23T>C (p.Leu8Pro) rs1564466414
NM_001114753.3(ENG):c.247C>T (p.Gln83Ter) rs863223532
NM_001114753.3(ENG):c.249G>T (p.Gln83His)
NM_001114753.3(ENG):c.258del (p.Lys86fs)
NM_001114753.3(ENG):c.263del (p.Asn88fs)
NM_001114753.3(ENG):c.272G>A (p.Trp91Ter)
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_001114753.3(ENG):c.277dup (p.Arg93fs) rs1830717066
NM_001114753.3(ENG):c.282G>A (p.Glu94=)
NM_001114753.3(ENG):c.291G>T (p.Leu97=)
NM_001114753.3(ENG):c.293T>A (p.Val98Asp) rs1830715947
NM_001114753.3(ENG):c.2T>C (p.Met1Thr) rs267606783
NM_001114753.3(ENG):c.312T>C (p.Ser104=)
NM_001114753.3(ENG):c.313_314del (p.Val105fs)
NM_001114753.3(ENG):c.315C>T (p.Val105=) rs1489927188
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr) rs1060501425
NM_001114753.3(ENG):c.33C>T (p.Ala11=)
NM_001114753.3(ENG):c.35T>C (p.Leu12Pro) rs1829096574
NM_001114753.3(ENG):c.360+1G>A rs886039505
NM_001114753.3(ENG):c.360+1G>C rs886039505
NM_001114753.3(ENG):c.360+1G>T rs886039505
NM_001114753.3(ENG):c.360+2dup
NM_001114753.3(ENG):c.360+5G>A rs1060501417
NM_001114753.3(ENG):c.360+5G>C rs1060501417
NM_001114753.3(ENG):c.361-2A>G
NM_001114753.3(ENG):c.361-2A>T
NM_001114753.3(ENG):c.391_392dup (p.Gly132fs)
NM_001114753.3(ENG):c.3G>T (p.Met1Ile)
NM_001114753.3(ENG):c.402C>T (p.Asn134=)
NM_001114753.3(ENG):c.417A>C (p.Pro139=) rs748286907
NM_001114753.3(ENG):c.439_440insAAGC (p.Leu147fs)
NM_001114753.3(ENG):c.445dup (p.Trp149fs)
NM_001114753.3(ENG):c.446G>A (p.Trp149Ter) rs863223534
NM_001114753.3(ENG):c.447G>A (p.Trp149Ter)
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys) rs878853657
NM_001114753.3(ENG):c.451_470delinsTCTGCTG (p.Ala151fs)
NM_001114753.3(ENG):c.457_458del (p.Arg153fs) rs2131890509
NM_001114753.3(ENG):c.457_458dup (p.Pro155fs)
NM_001114753.3(ENG):c.457dup (p.Arg153fs)
NM_001114753.3(ENG):c.493C>G (p.Pro165Ala)
NM_001114753.3(ENG):c.496dup (p.Gln166fs) rs1830620247
NM_001114753.3(ENG):c.502A>T (p.Ile168Phe)
NM_001114753.3(ENG):c.503TCC[2] (p.Leu170del)
NM_001114753.3(ENG):c.506T>C (p.Leu169Pro)
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter) rs1554810490
NM_001114753.3(ENG):c.512G>C (p.Arg171Pro) rs756980265
NM_001114753.3(ENG):c.516G>A (p.Leu172=)
NM_001114753.3(ENG):c.523+1G>A rs113930974
NM_001114753.3(ENG):c.523+1G>C rs113930974
NM_001114753.3(ENG):c.523+5G>C
NM_001114753.3(ENG):c.523G>A (p.Ala175Thr)
NM_001114753.3(ENG):c.523G>C (p.Ala175Pro)
NM_001114753.3(ENG):c.524-1G>T
NM_001114753.3(ENG):c.545G>A (p.Cys182Tyr)
NM_001114753.3(ENG):c.558del (p.Ser187fs) rs2131889490
NM_001114753.3(ENG):c.562C>T (p.Gln188Ter) rs863223537
NM_001114753.3(ENG):c.564G>A (p.Gln188=)
NM_001114753.3(ENG):c.565G>A (p.Asp189Asn) rs147792018
NM_001114753.3(ENG):c.569T>A (p.Met190Lys) rs1830602163
NM_001114753.3(ENG):c.581T>C (p.Leu194Pro) rs2131889364
NM_001114753.3(ENG):c.581_582del (p.Leu194fs)
NM_001114753.3(ENG):c.582_583insCATG (p.Glu195fs)
NM_001114753.3(ENG):c.582_584del (p.Glu195del)
NM_001114753.3(ENG):c.586T>C (p.Trp196Arg) rs2131889336
NM_001114753.3(ENG):c.587G>A (p.Trp196Ter) rs1588582870
NM_001114753.3(ENG):c.591G>A (p.Arg197=)
NM_001114753.3(ENG):c.595dup (p.Arg199fs)
NM_001114753.3(ENG):c.614G>C (p.Arg205Pro)
NM_001114753.3(ENG):c.615G>A (p.Arg205=)
NM_001114753.3(ENG):c.617del (p.Gly206fs) rs1830599423
NM_001114753.3(ENG):c.619T>C (p.Cys207Arg) rs2131889169
NM_001114753.3(ENG):c.619del (p.Cys207fs)
NM_001114753.3(ENG):c.626T>A (p.Leu209Ter) rs1243079862
NM_001114753.3(ENG):c.635_654del (p.Val212fs)
NM_001114753.3(ENG):c.63del (p.Thr22fs)
NM_001114753.3(ENG):c.640_643del (p.Gly214fs) rs864622666
NM_001114753.3(ENG):c.647del (p.Lys216fs)
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr) rs1588582695
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro) rs1554810378
NM_001114753.3(ENG):c.663G>A (p.Leu221=) rs747788064
NM_001114753.3(ENG):c.67+1G>A rs1554813783
NM_001114753.3(ENG):c.67+2T>C rs2131936480
NM_001114753.3(ENG):c.674del (p.Pro225fs) rs1830596596
NM_001114753.3(ENG):c.674dup (p.His227fs)
NM_001114753.3(ENG):c.68-1G>A rs878853659
NM_001114753.3(ENG):c.681C>T (p.His227=)
NM_001114753.3(ENG):c.689+1G>T
NM_001114753.3(ENG):c.690-1G>A rs1554810272
NM_001114753.3(ENG):c.692C>A (p.Pro231His) rs1289232116
NM_001114753.3(ENG):c.694_699del (p.Arg232_Thr233del) rs2131888057
NM_001114753.3(ENG):c.699G>A (p.Thr233=)
NM_001114753.3(ENG):c.700dup (p.Val234fs)
NM_001114753.3(ENG):c.701_705dup (p.Val236Ter)
NM_001114753.3(ENG):c.707T>A (p.Val236Glu) rs1588582073
NM_001114753.3(ENG):c.707T>C (p.Val236Ala)
NM_001114753.3(ENG):c.713T>A (p.Val238Glu) rs1060501415
NM_001114753.3(ENG):c.715dup (p.Glu239fs) rs1554810257
NM_001114753.3(ENG):c.716A>G (p.Glu239Gly)
NM_001114753.3(ENG):c.720G>C (p.Leu240=)
NM_001114753.3(ENG):c.721_725del (p.Ser241fs) rs1064794219
NM_001114753.3(ENG):c.729A>C (p.Ala243=) rs1242657224
NM_001114753.3(ENG):c.740del (p.Leu247fs)
NM_001114753.3(ENG):c.743del (p.Asp248fs) rs1588581961
NM_001114753.3(ENG):c.752T>A (p.Leu251His)
NM_001114753.3(ENG):c.764G>T (p.Gly255Val) rs2131887828
NM_001114753.3(ENG):c.766_767delinsA (p.Pro256fs)
NM_001114753.3(ENG):c.767_786del (p.Pro256fs) rs2131887701
NM_001114753.3(ENG):c.771del (p.Tyr258fs) rs1588581902
NM_001114753.3(ENG):c.771dup (p.Tyr258fs) rs1588581902
NM_001114753.3(ENG):c.772del (p.Tyr258fs) rs1830580093
NM_001114753.3(ENG):c.776del (p.Val259fs) rs1588581880
NM_001114753.3(ENG):c.787_789del (p.Ile263del) rs1830579035
NM_001114753.3(ENG):c.806T>A (p.Met269Lys) rs752331196
NM_001114753.3(ENG):c.815G>A (p.Trp272Ter) rs1588581785
NM_001114753.3(ENG):c.816+5G>C
NM_001114753.3(ENG):c.816G>A (p.Trp272Ter) rs886041326
NM_001114753.3(ENG):c.817-1G>C rs1564455715
NM_001114753.3(ENG):c.822del (p.Gly275fs)
NM_001114753.3(ENG):c.828del (p.Glu276fs)
NM_001114753.3(ENG):c.832T>C (p.Ser278Pro)
NM_001114753.3(ENG):c.841del (p.Ile281fs)
NM_001114753.3(ENG):c.858C>T (p.Asn286=)
NM_001114753.3(ENG):c.870C>T (p.Phe290=) rs1830570141
NM_001114753.3(ENG):c.878del (p.Pro293fs)
NM_001114753.3(ENG):c.895del (p.Leu299fs) rs1064795636
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro) rs1335718486
NM_001114753.3(ENG):c.89G>A (p.Cys30Tyr)
NM_001114753.3(ENG):c.904dup (p.Glu302fs) rs1554810177
NM_001114753.3(ENG):c.906G>A (p.Glu302=)
NM_001114753.3(ENG):c.908C>A (p.Ala303Asp)
NM_001114753.3(ENG):c.909C>T (p.Ala303=) rs200306464
NM_001114753.3(ENG):c.910del (p.Arg304fs)
NM_001114753.3(ENG):c.916del (p.Leu306fs)
NM_001114753.3(ENG):c.917T>C (p.Leu306Pro)
NM_001114753.3(ENG):c.917_918del (p.Leu306fs)
NM_001114753.3(ENG):c.919_920del (p.Asn307fs)
NM_001114753.3(ENG):c.920A>T (p.Asn307Ile)
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp) rs1482440395
NM_001114753.3(ENG):c.933G>T (p.Val311=)
NM_001114753.3(ENG):c.95T>A (p.Leu32His)
NM_001114753.3(ENG):c.990C>A (p.Cys330Ter)
NM_001114753.3(ENG):c.991+1G>C
NM_001114753.3(ENG):c.991+4A>G rs2131886797
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001114753.3(ENG):c.992-3C>G rs1830552318
NM_001114753.3(ENG):c.992-5C>G

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