ClinVar Miner

List of variants reported as pathogenic for hereditary generalized epilepsy by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 253
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.902-2A>C rs773824421 0.00005
NM_198904.4(GABRG2):c.406C>T (p.Arg136Ter) rs796052504 0.00003
NM_001365536.1(SCN9A):c.1567C>T (p.Arg523Ter) rs202211795 0.00002
NM_001365536.1(SCN9A):c.640C>T (p.Arg214Ter) rs377543079 0.00002
NM_001365536.1(SCN9A):c.1642C>T (p.Arg548Ter) rs1057518900 0.00001
NM_001365536.1(SCN9A):c.1904C>G (p.Ser635Ter) rs1411870484 0.00001
NM_001365536.1(SCN9A):c.2503C>T (p.Arg835Ter) rs1329907808 0.00001
NM_001365536.1(SCN9A):c.2521C>T (p.Arg841Ter) rs780673293 0.00001
NM_001365536.1(SCN9A):c.2720G>A (p.Arg907Gln) rs1024152367 0.00001
NM_001365536.1(SCN9A):c.2723G>A (p.Trp908Ter) rs794729216 0.00001
NM_001365536.1(SCN9A):c.4828C>T (p.Arg1610Ter) rs775654130 0.00001
NM_001365536.1(SCN9A):c.5008A>T (p.Lys1670Ter) rs751948774 0.00001
NM_001365536.1(SCN9A):c.5351del (p.Glu1784fs) rs1553473041 0.00001
NM_198904.4(GABRG2):c.571C>T (p.Gln191Ter) rs1334776746 0.00001
NC_000002.11:g.(?_165946660)_(167108415_?)del
NC_000002.11:g.(?_165946660)_(167168266_?)del
NC_000002.11:g.(?_166847749)_(167060980_?)del
NC_000002.11:g.(?_166895913)_(167145173_?)del
NC_000002.11:g.(?_167055172)_(167060984_?)del
NC_000002.11:g.(?_167055182)_(167056394_?)del
NC_000002.11:g.(?_167083057)_(167099186_?)del
NC_000002.11:g.(?_167085181)_(167168266_?)del
NC_000002.12:g.(?_165090130)_(166228992_?)del
NC_000002.12:g.(?_165090130)_(166286643_?)del
NC_000002.12:g.(?_165090130)_(166311776_?)del
NC_000005.10:g.(?_162066642)_(162156539_?)del
NC_000005.10:g.(?_162067980)_(162068126_?)del
NC_000005.10:g.(?_162101215)_(162104046_?)del
NC_000005.10:g.(?_162101225)_(162153368_?)del
NC_000005.9:g.(?_160721068)_(161528343_?)del
NC_000005.9:g.(?_161128494)_(161580374_?)del
NC_000005.9:g.(?_161277817)_(161580374_?)del
NC_000005.9:g.(?_161309544)_(161309727_?)del
NC_000005.9:g.(?_161381199)_(161531016_?)del
NC_000005.9:g.(?_161495006)_(161495132_?)del
NC_000005.9:g.(?_161495006)_(161528343_?)del
NC_000005.9:g.(?_161495006)_(161531052_?)del
NC_000005.9:g.(?_161495006)_(161569342_?)del
NC_000005.9:g.(?_161495006)_(161580374_?)del
NC_000005.9:g.(?_161520814)_(161531052_?)del
NC_000005.9:g.(?_161520814)_(161580374_?)del
NC_000005.9:g.(?_161530875)_(161580374_?)del
NC_000005.9:g.(?_161569150)_(161580374_?)del
NC_000015.10:g.(?_25862297)_(26937328_?)del
NC_000015.10:g.(?_26547773)_(26775295_?)del
NC_000015.10:g.(?_26567561)_(26629023_?)del
NC_000015.9:g.(?_26107444)_(28230334_?)del
NC_000015.9:g.(?_26792940)_(26828581_?)del
NC_000015.9:g.(?_26792940)_(26866701_?)del
NC_000015.9:g.(?_26792940)_(27018109_?)del
NC_000015.9:g.(?_26792940)_(27020442_?)del
NC_000015.9:g.(?_26866441)_(26866701_?)del
NC_000015.9:g.(?_27017529)_(27018109_?)del
NC_000016.10:g.(?_30992801)_(31068051_?)del
NC_000016.10:g.(?_31000908)_(31001623_?)del
NC_000016.9:g.(?_30996980)_(31021717_?)del
NM_000814.6(GABRB3):c.1054del (p.Asp352fs) rs1889959221
NM_000814.6(GABRB3):c.154C>G (p.Leu52Val)
NM_000814.6(GABRB3):c.172+1del rs1891185645
NM_000814.6(GABRB3):c.238A>C (p.Met80Leu)
NM_000814.6(GABRB3):c.288G>T (p.Arg96Ser) rs2140537271
NM_000814.6(GABRB3):c.331C>T (p.Arg111Ter) rs942355738
NM_000814.6(GABRB3):c.358G>A (p.Asp120Asn) rs886037938
NM_000814.6(GABRB3):c.372A>C (p.Leu124Phe) rs1057519550
NM_000814.6(GABRB3):c.374del (p.Asn125fs) rs2140536988
NM_000814.6(GABRB3):c.380A>G (p.Lys127Arg) rs1057519201
NM_000814.6(GABRB3):c.405_406del (p.Val136fs) rs2140536878
NM_000814.6(GABRB3):c.405del (p.Thr135_Val136insTer) rs1892476410
NM_000814.6(GABRB3):c.470C>T (p.Thr157Met) rs2140737885
NM_000814.6(GABRB3):c.487A>G (p.Met163Val) rs1060502666
NM_000814.6(GABRB3):c.504C>A (p.Tyr168Ter) rs1060502665
NM_000814.6(GABRB3):c.551A>G (p.Tyr184Cys)
NM_000814.6(GABRB3):c.554C>T (p.Thr185Ile) rs1131691481
NM_000814.6(GABRB3):c.580C>T (p.Arg194Ter) rs1555368345
NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter) rs1595445975
NM_000814.6(GABRB3):c.695G>A (p.Arg232Gln) rs797045045
NM_000814.6(GABRB3):c.6G>A (p.Trp2Ter)
NM_000814.6(GABRB3):c.757C>A (p.Pro253Thr) rs1890229008
NM_000814.6(GABRB3):c.761C>T (p.Ser254Phe) rs1057519549
NM_000814.6(GABRB3):c.817G>A (p.Ala273Thr)
NM_000814.6(GABRB3):c.860C>T (p.Thr287Ile) rs1595440448
NM_000814.6(GABRB3):c.863C>T (p.Thr288Ile) rs1555401440
NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys) rs1889966424
NM_000814.6(GABRB3):c.911A>G (p.Lys304Arg) rs1889966043
NM_000814.6(GABRB3):c.923T>G (p.Met308Arg) rs746425161
NM_000814.6(GABRB3):c.927C>A (p.Tyr309Ter)
NM_000814.6(GABRB3):c.987C>G (p.Tyr329Ter)
NM_001127644.2(GABRA1):c.1059+2T>C rs1755341108
NM_001127644.2(GABRA1):c.1070_1074del (p.Val357fs)
NM_001127644.2(GABRA1):c.275T>C (p.Phe92Ser) rs2113380903
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.365G>A (p.Trp122Ter)
NM_001127644.2(GABRA1):c.560-95_598del
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001127644.2(GABRA1):c.751G>A (p.Gly251Ser) rs587777307
NM_001127644.2(GABRA1):c.755A>G (p.Tyr252Cys) rs2113446442
NM_001127644.2(GABRA1):c.813del (p.Phe272fs) rs2113446665
NM_001127644.2(GABRA1):c.830A>G (p.Glu277Gly)
NM_001127644.2(GABRA1):c.839C>A (p.Pro280Gln)
NM_001127644.2(GABRA1):c.863C>T (p.Thr288Ile) rs1755330256
NM_001127644.2(GABRA1):c.865A>G (p.Thr289Ala) rs189199636
NM_001127644.2(GABRA1):c.869_888del (p.Val290fs) rs1561587715
NM_001127644.2(GABRA1):c.875C>T (p.Thr292Ile)
NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter) rs769743354
NM_001127644.2(GABRA1):c.975C>A (p.Phe325Leu) rs2113464798
NM_001127644.2(GABRA1):c.978_982del (p.Ala327fs)
NM_001365536.1(SCN9A):c.102del (p.Glu34fs)
NM_001365536.1(SCN9A):c.1129del (p.Thr377fs) rs1574873149
NM_001365536.1(SCN9A):c.116del (p.Lys39fs) rs2105226927
NM_001365536.1(SCN9A):c.1198G>A (p.Val400Met) rs1553491169
NM_001365536.1(SCN9A):c.133G>T (p.Glu45Ter) rs1553498017
NM_001365536.1(SCN9A):c.1344_1345dup (p.Ser449fs)
NM_001365536.1(SCN9A):c.1497del (p.Lys499fs) rs2106487245
NM_001365536.1(SCN9A):c.1502C>A (p.Ser501Ter) rs751421307
NM_001365536.1(SCN9A):c.1528A>T (p.Arg510Ter)
NM_001365536.1(SCN9A):c.1528del (p.Arg510fs)
NM_001365536.1(SCN9A):c.1635del (p.Ala546fs)
NM_001365536.1(SCN9A):c.1678_1679insCT (p.Arg560fs) rs1697657932
NM_001365536.1(SCN9A):c.1766_1769del (p.Phe589fs) rs775868908
NM_001365536.1(SCN9A):c.1789C>T (p.Arg597Ter)
NM_001365536.1(SCN9A):c.2033del (p.Asp678fs) rs1574859556
NM_001365536.1(SCN9A):c.2064_2065del (p.Arg688fs)
NM_001365536.1(SCN9A):c.2109dup (p.Glu704Ter) rs779327684
NM_001365536.1(SCN9A):c.2139G>A (p.Trp713Ter)
NM_001365536.1(SCN9A):c.2141G>A (p.Trp714Ter) rs1057518162
NM_001365536.1(SCN9A):c.2204del (p.Lys735fs) rs1297421890
NM_001365536.1(SCN9A):c.2217dup (p.Ile740fs)
NM_001365536.1(SCN9A):c.2305_2323dup (p.Val775delinsAspTer) rs1553488759
NM_001365536.1(SCN9A):c.2409T>A (p.Tyr803Ter) rs142219317
NM_001365536.1(SCN9A):c.2424G>A (p.Trp808Ter) rs769971743
NM_001365536.1(SCN9A):c.2454_2458del (p.Leu818fs) rs766212849
NM_001365536.1(SCN9A):c.2507C>A (p.Ser836Ter) rs2106471095
NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr) rs80356474
NM_001365536.1(SCN9A):c.2577del (p.Ile859fs) rs753900410
NM_001365536.1(SCN9A):c.2599G>C (p.Gly867Arg) rs1697277352
NM_001365536.1(SCN9A):c.2606T>A (p.Leu869His) rs80356475
NM_001365536.1(SCN9A):c.2667dup (p.Lys890Ter) rs2106469123
NM_001365536.1(SCN9A):c.2709del (p.Asp902_Cys903insTer) rs1697271674
NM_001365536.1(SCN9A):c.2941G>T (p.Glu981Ter)
NM_001365536.1(SCN9A):c.2984_2985insC (p.Ile995_Lys996insTer) rs2106461311
NM_001365536.1(SCN9A):c.2984delinsCC (p.Ile995fs) rs1574844397
NM_001365536.1(SCN9A):c.3019C>T (p.Arg1007Cys) rs121908910
NM_001365536.1(SCN9A):c.3096del (p.Lys1033fs) rs2106460925
NM_001365536.1(SCN9A):c.3183_3199del (p.Phe1062fs) rs1317855790
NM_001365536.1(SCN9A):c.3187G>T (p.Gly1063Ter) rs1553486684
NM_001365536.1(SCN9A):c.3352-1G>A rs2106426576
NM_001365536.1(SCN9A):c.3550del (p.Thr1184fs)
NM_001365536.1(SCN9A):c.3587del (p.Ser1196fs)
NM_001365536.1(SCN9A):c.363del (p.Ile122fs) rs1698779595
NM_001365536.1(SCN9A):c.3736_3739dup (p.Ala1247fs)
NM_001365536.1(SCN9A):c.3780G>A (p.Trp1260Ter) rs1553481071
NM_001365536.1(SCN9A):c.3801+1G>A rs2106403305
NM_001365536.1(SCN9A):c.3818del (p.Thr1272_Leu1273insTer) rs1344477568
NM_001365536.1(SCN9A):c.381dup (p.Phe128fs)
NM_001365536.1(SCN9A):c.3884del (p.Ala1294_Leu1295insTer)
NM_001365536.1(SCN9A):c.3928G>T (p.Val1310Phe) rs121908913
NM_001365536.1(SCN9A):c.3995G>A (p.Trp1332Ter) rs1553479216
NM_001365536.1(SCN9A):c.3996G>A (p.Trp1332Ter)
NM_001365536.1(SCN9A):c.4084del (p.Ser1362fs)
NM_001365536.1(SCN9A):c.4141C>T (p.Arg1381Ter)
NM_001365536.1(SCN9A):c.4195_4196del (p.Leu1399fs) rs2106387246
NM_001365536.1(SCN9A):c.4415T>C (p.Ile1472Thr) rs121908914
NM_001365536.1(SCN9A):c.4495C>T (p.Arg1499Ter) rs187558439
NM_001365536.1(SCN9A):c.4510del (p.Ile1504fs) rs1693682030
NM_001365536.1(SCN9A):c.4733G>A (p.Trp1578Ter) rs200070962
NM_001365536.1(SCN9A):c.4740_4743dup (p.Asp1582delinsPheTer) rs2106346033
NM_001365536.1(SCN9A):c.4819del (p.Thr1607fs) rs1693396597
NM_001365536.1(SCN9A):c.4855C>T (p.Arg1619Ter) rs779609081
NM_001365536.1(SCN9A):c.5004T>A (p.Tyr1668Ter) rs1693383784
NM_001365536.1(SCN9A):c.5004T>G (p.Tyr1668Ter) rs1693383784
NM_001365536.1(SCN9A):c.500C>A (p.Ser167Ter)
NM_001365536.1(SCN9A):c.5082del (p.Thr1695fs) rs1320568689
NM_001365536.1(SCN9A):c.5100G>A (p.Trp1700Ter) rs1553473186
NM_001365536.1(SCN9A):c.531T>A (p.Cys177Ter)
NM_001365536.1(SCN9A):c.570G>A (p.Trp190Ter) rs1553496156
NM_001365536.1(SCN9A):c.611_612dup (p.Val205fs) rs1574903287
NM_001365536.1(SCN9A):c.701T>C (p.Ile234Thr) rs1698638581
NM_001365536.1(SCN9A):c.759_760del (p.Phe254fs) rs1559027674
NM_001365536.1(SCN9A):c.829C>T (p.Arg277Ter) rs121908916
NM_001365536.1(SCN9A):c.915C>A (p.Tyr305Ter) rs2106506584
NM_021098.3(CACNA1H):c.4647G>T (p.Met1549Ile)
NM_052874.5(STX1B):c.205_205+1del rs2143677618
NM_052874.5(STX1B):c.214C>T (p.Gln72Ter) rs2143677351
NM_052874.5(STX1B):c.252_257delinsAT (p.Ala85fs) rs2056624422
NM_052874.5(STX1B):c.334del (p.Leu112fs) rs2143670891
NM_052874.5(STX1B):c.338_354+15del
NM_052874.5(STX1B):c.340_354+123del
NM_052874.5(STX1B):c.35_36dup (p.Asp13fs) rs1567379671
NM_052874.5(STX1B):c.366del (p.Ser123fs)
NM_052874.5(STX1B):c.394G>T (p.Glu132Ter) rs1567378099
NM_052874.5(STX1B):c.39del (p.Asp13fs)
NM_052874.5(STX1B):c.404del (p.Ala135fs) rs1596716888
NM_052874.5(STX1B):c.463+1G>A rs2056596353
NM_052874.5(STX1B):c.463+5G>T rs1596716834
NM_052874.5(STX1B):c.537+2T>C rs1555494222
NM_052874.5(STX1B):c.733C>T (p.Arg245Ter) rs780843272
NM_052874.5(STX1B):c.786+1G>A
NM_052874.5(STX1B):c.786+1G>T
NM_198904.4(GABRG2):c.1025del (p.Cys342fs) rs1060501889
NM_198904.4(GABRG2):c.1035del (p.Phe345fs) rs1581453822
NM_198904.4(GABRG2):c.1087del (p.Arg363fs) rs1765186475
NM_198904.4(GABRG2):c.1181C>A (p.Ser394Ter)
NM_198904.4(GABRG2):c.1202dup (p.Asn401fs)
NM_198904.4(GABRG2):c.1217_1218del (p.Gln406fs) rs1554101202
NM_198904.4(GABRG2):c.1224_1225insCA (p.Asp409fs) rs2113650735
NM_198904.4(GABRG2):c.1236C>A (p.Tyr412Ter)
NM_198904.4(GABRG2):c.1277_1278insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTCTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCCAGTTTTTT (p.Phe426_Cys427insPhePhePhePhePhePheXaaXaaXaaXaaPhePhePhePheSerPhePhePheTyrPhePheIlePhePhePhePhePheIleIleLeuTer)
NM_198904.4(GABRG2):c.1277del (p.Phe426fs) rs1285618109
NM_198904.4(GABRG2):c.1297C>T (p.Arg433Ter) rs1554101224
NM_198904.4(GABRG2):c.1334G>T (p.Arg445Leu) rs587780341
NM_198904.4(GABRG2):c.1353del (p.Tyr452fs)
NM_198904.4(GABRG2):c.178A>T (p.Lys60Ter)
NM_198904.4(GABRG2):c.230_231del (p.Gly76_Tyr77insTer)
NM_198904.4(GABRG2):c.244C>T (p.Arg82Trp) rs146470870
NM_198904.4(GABRG2):c.245G>A (p.Arg82Gln) rs121909673
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met) rs1057520498
NM_198904.4(GABRG2):c.291T>A (p.Tyr97Ter)
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_198904.4(GABRG2):c.327+1del
NM_198904.4(GABRG2):c.334A>C (p.Thr112Pro)
NM_198904.4(GABRG2):c.351dup (p.Ala118fs) rs1554097873
NM_198904.4(GABRG2):c.363G>A (p.Trp121Ter)
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys) rs2113325423
NM_198904.4(GABRG2):c.386del (p.Asn129fs)
NM_198904.4(GABRG2):c.429dup (p.Lys144fs) rs2113326012
NM_198904.4(GABRG2):c.452_455del (p.Phe151fs)
NM_198904.4(GABRG2):c.471del (p.Ala158fs) rs1554097890
NM_198904.4(GABRG2):c.498del (p.Asn167fs) rs2113326854
NM_198904.4(GABRG2):c.529C>T (p.Arg177Ter) rs267606837
NM_198904.4(GABRG2):c.530del (p.Arg177fs) rs878854144
NM_198904.4(GABRG2):c.570C>A (p.Cys190Ter)
NM_198904.4(GABRG2):c.654_664del (p.Ile218fs)
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter) rs1045493304
NM_198904.4(GABRG2):c.677_681del (p.Ser225_Ser226insTer) rs1554098222
NM_198904.4(GABRG2):c.697del (p.Arg233fs) rs1761620237
NM_198904.4(GABRG2):c.715C>T (p.Gln239Ter)
NM_198904.4(GABRG2):c.748G>T (p.Glu250Ter) rs549251133
NM_198904.4(GABRG2):c.769+2T>C
NM_198904.4(GABRG2):c.769G>A (p.Gly257Arg) rs1554098235
NM_198904.4(GABRG2):c.782del (p.Val261fs)
NM_198904.4(GABRG2):c.817G>T (p.Gly273Ter) rs1469287853
NM_198904.4(GABRG2):c.839A>G (p.Tyr280Cys)
NM_198904.4(GABRG2):c.844C>T (p.Pro282Ser) rs796052508
NM_198904.4(GABRG2):c.852_858del (p.Leu285fs)
NM_198904.4(GABRG2):c.877T>A (p.Ser293Thr) rs2113598950
NM_198904.4(GABRG2):c.917C>T (p.Ser306Phe) rs2113599212
NM_198904.4(GABRG2):c.940A>T (p.Thr314Ser) rs2113632555
NM_198904.4(GABRG2):c.95C>A (p.Ser32Ter) rs1758361435
NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp) rs796052510
NM_198904.4(GABRG2):c.968G>A (p.Arg323Gln) rs397514737
NM_198904.4(GABRG2):c.974C>T (p.Ser325Leu) rs1581453572
NM_198904.4(GABRG2):c.992A>G (p.Tyr331Cys) rs1390117240

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