ClinVar Miner

List of variants reported as likely pathogenic for genetic generalized epilepsy

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 254
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HGVS dbSNP gnomAD frequency
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu) rs146579299 0.00068
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val) rs200789563 0.00036
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln) rs200792658 0.00036
NM_004366.6(CLCN2):c.898+1G>A rs141074059 0.00009
NM_004366.6(CLCN2):c.1141C>G (p.Pro381Ala) rs141605519 0.00008
NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp) rs202152511 0.00004
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter) rs144495588 0.00004
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_032119.4(ADGRV1):c.13919G>A (p.Gly4640Glu) rs727504706 0.00003
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter) rs201330912 0.00002
NM_000726.5(CACNB4):c.331G>A (p.Val111Met) rs764764389 0.00001
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys) rs1135401736 0.00001
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln) rs121917912 0.00001
NM_001165963.4(SCN1A):c.5620C>T (p.Arg1874Trp) rs796053043 0.00001
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val) rs915676341 0.00001
NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val) rs886039456 0.00001
NM_001365536.1(SCN9A):c.2517+1G>C rs560913943 0.00001
NM_001365536.1(SCN9A):c.258+1G>A rs755067851 0.00001
NM_001365536.1(SCN9A):c.3928G>A (p.Val1310Ile) rs121908913 0.00001
NM_001365536.1(SCN9A):c.4503+1G>T rs746241591 0.00001
NM_004366.6(CLCN2):c.925C>T (p.Arg309Ter) rs863225250 0.00001
NM_018941.4(CLN8):c.295C>T (p.Gln99Ter) rs750162094 0.00001
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys) rs386834130 0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys) rs104894060 0.00001
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys) rs587779411 0.00001
NM_032119.4(ADGRV1):c.9214G>A (p.Gly3072Ser) rs757560169 0.00001
NM_052874.5(STX1B):c.845T>C (p.Ile282Thr) rs763428520 0.00001
NM_198904.4(GABRG2):c.1000G>A (p.Ala334Thr) rs398123523 0.00001
NM_198904.4(GABRG2):c.530G>A (p.Arg177Gln) rs1445637165 0.00001
9q21.13 deletion
NC_000002.11:g.(?_167119087)_(167129240_?)del
NC_000005.10:g.(?_162142144)_(162153388_?)del
NC_000005.9:g.(?_161292707)_(161495132_?)del
NC_000005.9:g.(?_161520814)_(161531052_?)dup
NC_000016.9:g.(?_31008252)_(31012944_?)dup
NM_000814.6(GABRB3):c.146A>G (p.Asp49Gly) rs2140199587
NM_000814.6(GABRB3):c.229G>C (p.Glu77Gln)
NM_000814.6(GABRB3):c.241-1G>A
NM_000814.6(GABRB3):c.379A>G (p.Lys127Glu) rs2140536974
NM_000814.6(GABRB3):c.398_400dup (p.Gly133_Val134insGly)
NM_000814.6(GABRB3):c.467C>A (p.Thr156Asn) rs78196007
NM_000814.6(GABRB3):c.467C>T (p.Thr156Ile)
NM_000814.6(GABRB3):c.481T>A (p.Cys161Ser)
NM_000814.6(GABRB3):c.545-2A>G
NM_000814.6(GABRB3):c.682+1G>A
NM_000814.6(GABRB3):c.695G>C (p.Arg232Pro) rs797045045
NM_000814.6(GABRB3):c.758C>A (p.Pro253His) rs1064796514
NM_000814.6(GABRB3):c.761C>A (p.Ser254Tyr) rs1057519549
NM_000814.6(GABRB3):c.766C>G (p.Leu256Val) rs1555401942
NM_000814.6(GABRB3):c.838A>T (p.Ile280Phe) rs1057518036
NM_000814.6(GABRB3):c.862A>G (p.Thr288Ala) rs1595440443
NM_000814.6(GABRB3):c.866_904dup (p.Pro301_Tyr302insPheAsnThrHisLeuArgGluThrLeuProLysIlePro)
NM_000814.6(GABRB3):c.895A>C (p.Lys299Gln) rs1567106381
NM_000814.6(GABRB3):c.901C>T (p.Pro301Ser) rs1889966666
NM_000814.6(GABRB3):c.902C>T (p.Pro301Leu) rs1889966534
NM_000814.6(GABRB3):c.905A>T (p.Tyr302Phe)
NM_000814.6(GABRB3):c.917T>C (p.Ile306Thr) rs1889965425
NM_000814.6(GABRB3):c.982A>C (p.Asn328His) rs2140679963
NM_000815.5(GABRD):c.770C>T (p.Pro257Leu)
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001037.5(SCN1B):c.254G>T (p.Arg85Leu)
NM_001127644.2(GABRA1):c.124T>C (p.Phe42Leu) rs2113307162
NM_001127644.2(GABRA1):c.134T>C (p.Ile45Thr)
NM_001127644.2(GABRA1):c.256-2A>G rs1064795805
NM_001127644.2(GABRA1):c.268G>A (p.Asp90Asn) rs796052488
NM_001127644.2(GABRA1):c.371C>T (p.Pro124Leu)
NM_001127644.2(GABRA1):c.476+2T>A rs2113381723
NM_001127644.2(GABRA1):c.563C>A (p.Ala188Asp)
NM_001127644.2(GABRA1):c.5G>A (p.Arg2Lys) rs2113293570
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001127644.2(GABRA1):c.785_786dup (p.Met263Ter)
NM_001127644.2(GABRA1):c.788T>C (p.Met263Thr) rs796052491
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
NM_001127644.2(GABRA1):c.799C>T (p.Leu267Phe) rs796052492
NM_001127644.2(GABRA1):c.825C>A (p.Asn275Lys) rs1755063970
NM_001127644.2(GABRA1):c.84G>T (p.Gln28His)
NM_001127644.2(GABRA1):c.857-2A>G rs1313965409
NM_001127644.2(GABRA1):c.897T>G (p.Ser299Arg) rs1581220163
NM_001165963.1:c.(3429+1_3430-1)_(4002+1_4003-1)del
NM_001165963.4(SCN1A):c.1037C>A (p.Pro346Gln)
NM_001165963.4(SCN1A):c.1037C>T (p.Pro346Leu) rs2105868295
NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln) rs121917957
NM_001165963.4(SCN1A):c.1130_1131delinsAC (p.Arg377His)
NM_001165963.4(SCN1A):c.1175T>C (p.Leu392Ser) rs2105862926
NM_001165963.4(SCN1A):c.1239C>A (p.Tyr413Ter)
NM_001165963.4(SCN1A):c.1432_1435del (p.Arg478fs)
NM_001165963.4(SCN1A):c.1465_1480del (p.Ser490fs) rs2105851922
NM_001165963.4(SCN1A):c.1685_1688del (p.Ser562fs)
NM_001165963.4(SCN1A):c.2020G>C (p.Asp674His) rs1574214734
NM_001165963.4(SCN1A):c.2043+1G>A rs751533302
NM_001165963.4(SCN1A):c.2357C>T (p.Ala786Val)
NM_001165963.4(SCN1A):c.2360T>A (p.Met787Lys)
NM_001165963.4(SCN1A):c.2516T>C (p.Ile839Thr) rs2105817051
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_001165963.4(SCN1A):c.2542G>T (p.Gly848Ter) rs1553542262
NM_001165963.4(SCN1A):c.2589+2dup
NM_001165963.4(SCN1A):c.2589+3A>G rs794726775
NM_001165963.4(SCN1A):c.2624C>A (p.Thr875Lys) rs121918623
NM_001165963.4(SCN1A):c.265del (p.Thr89fs) rs2105918665
NM_001165963.4(SCN1A):c.2671G>A (p.Gly891Arg)
NM_001165963.4(SCN1A):c.2782C>T (p.Gln928Ter) rs796052985
NM_001165963.4(SCN1A):c.2867T>C (p.Met956Thr) rs1696619508
NM_001165963.4(SCN1A):c.2879T>A (p.Met960Lys)
NM_001165963.4(SCN1A):c.2948T>G (p.Val983Gly) rs121918756
NM_001165963.4(SCN1A):c.323T>A (p.Leu108Gln) rs794726793
NM_001165963.4(SCN1A):c.3281A>T (p.Lys1094Ile) rs2105794473
NM_001165963.4(SCN1A):c.361G>C (p.Ala121Pro) rs1699353976
NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro) rs1553525337
NM_001165963.4(SCN1A):c.4043T>C (p.Met1348Thr) rs1559128483
NM_001165963.4(SCN1A):c.4122C>G (p.Tyr1374Ter)
NM_001165963.4(SCN1A):c.4133A>T (p.Asn1378Ile) rs1131691775
NM_001165963.4(SCN1A):c.4265A>T (p.Tyr1422Phe) rs121917913
NM_001165963.4(SCN1A):c.4284+4A>C rs1691026372
NM_001165963.4(SCN1A):c.4322C>T (p.Ala1441Val) rs2105486615
NM_001165963.4(SCN1A):c.4475_4476+1del
NM_001165963.4(SCN1A):c.4476+5G>T rs1553522266
NM_001165963.4(SCN1A):c.4493T>C (p.Ile1498Thr)
NM_001165963.4(SCN1A):c.4529C>T (p.Ala1510Val) rs796053019
NM_001165963.4(SCN1A):c.4555C>A (p.Pro1519Thr) rs796053021
NM_001165963.4(SCN1A):c.4576C>A (p.Pro1526Thr)
NM_001165963.4(SCN1A):c.4630G>A (p.Asp1544Asn)
NM_001165963.4(SCN1A):c.4778T>A (p.Ile1593Asn)
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys) rs121917993
NM_001165963.4(SCN1A):c.4867G>C (p.Glu1623Gln)
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
NM_001165963.4(SCN1A):c.5116_5117del (p.Asn1706fs)
NM_001165963.4(SCN1A):c.5161A>C (p.Thr1721Pro)
NM_001165963.4(SCN1A):c.5215C>T (p.Pro1739Ser) rs1689271992
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn) rs796053035
NM_001165963.4(SCN1A):c.5221T>A (p.Cys1741Ser)
NM_001165963.4(SCN1A):c.5316del (p.Ser1773fs)
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val) rs780809852
NM_001165963.4(SCN1A):c.5581C>T (p.Arg1861Trp) rs760906812
NM_001165963.4(SCN1A):c.5624_5630del (p.Val1875fs) rs2105425236
NM_001165963.4(SCN1A):c.629G>A (p.Gly210Asp) rs1698747852
NM_001165963.4(SCN1A):c.722T>A (p.Ile241Asn)
NM_001165963.4(SCN1A):c.725A>G (p.Gln242Arg) rs1574266328
NM_001165963.4(SCN1A):c.751A>G (p.Met251Val) rs2105890375
NM_001165963.4(SCN1A):c.811G>A (p.Gly271Ser) rs2105889878
NM_001165963.4(SCN1A):c.833T>A (p.Ile278Lys) rs1559238215
NM_001165963.4(SCN1A):c.982del (p.Glu328fs) rs2105874493
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val) rs779184118
NM_001348946.2(ABCB1):c.2678C>A (p.Ser893Tyr) rs2117129739
NM_001365536.1(SCN9A):c.1314+1G>A
NM_001365536.1(SCN9A):c.1314+1G>T rs1295192882
NM_001365536.1(SCN9A):c.1602+1G>A rs2106486889
NM_001365536.1(SCN9A):c.1602+1_1602+2insTGTCGAAGGGCATAGGCGAGCACATGAAAAGAGGTTGTCTACCCCCAATCAGGAC
NM_001365536.1(SCN9A):c.2343+2T>C
NM_001365536.1(SCN9A):c.2344-2A>G rs1697328487
NM_001365536.1(SCN9A):c.2518-1G>T rs2106469561
NM_001365536.1(SCN9A):c.258+1G>T
NM_001365536.1(SCN9A):c.258+2T>C
NM_001365536.1(SCN9A):c.2875-1G>A
NM_001365536.1(SCN9A):c.3351+2T>G
NM_001365536.1(SCN9A):c.3427G>C (p.Ala1143Pro)
NM_001365536.1(SCN9A):c.3628-1G>A
NM_001365536.1(SCN9A):c.378-1C>T rs1309621904
NM_001365536.1(SCN9A):c.3796_3801+23del rs1471163637
NM_001365536.1(SCN9A):c.3924+1G>C rs2106395478
NM_001365536.1(SCN9A):c.3925-2A>G rs532631248
NM_001365536.1(SCN9A):c.4398+2T>C rs2106383164
NM_001365536.1(SCN9A):c.4399-1C>T rs1283839545
NM_001365536.1(SCN9A):c.4415T>A (p.Ile1472Asn) rs121908914
NM_001365536.1(SCN9A):c.4503+1G>A rs746241591
NM_001365536.1(SCN9A):c.468-1G>C
NM_001365536.1(SCN9A):c.468-1G>T
NM_001365536.1(SCN9A):c.5876A>C (p.Asp1959Ala) rs1060502047
NM_001365536.1(SCN9A):c.596+1G>T rs201560701
NM_001365536.1(SCN9A):c.596+1del
NM_001365536.1(SCN9A):c.706G>T (p.Gly236Trp)
NM_001365536.1(SCN9A):c.965+1G>T rs1698219355
NM_004366.6(CLCN2):c.1069del (p.Arg357fs)
NM_004366.6(CLCN2):c.1550C>T (p.Thr517Met) rs1458831101
NM_004366.6(CLCN2):c.1705G>A (p.Gly569Ser)
NM_004366.6(CLCN2):c.1828C>T (p.Arg610Ter)
NM_004366.6(CLCN2):c.1885C>T (p.Arg629Cys)
NM_004366.6(CLCN2):c.194del (p.Gly65fs)
NM_004366.6(CLCN2):c.221-2A>G
NM_004366.6(CLCN2):c.64-1G>A
NM_004366.6(CLCN2):c.668_672del (p.Leu223fs) rs756385625
NM_004366.6(CLCN2):c.73C>T (p.Arg25Trp)
NM_018941.4(CLN8):c.353dup (p.Asn118fs)
NM_018941.4(CLN8):c.609C>A (p.Cys203Ter)
NM_018941.4(CLN8):c.782T>C (p.Val261Ala)
NM_021072.4(HCN1):c.2128_2129dup (p.Ser710fs) rs2111839421
NM_021072.4(HCN1):c.299C>T (p.Ser100Phe) rs587777492
NM_021072.4(HCN1):c.499T>C (p.Phe167Leu)
NM_021072.4(HCN1):c.628C>T (p.Pro210Ser) rs2112032137
NM_021072.4(HCN1):c.701A>G (p.Tyr234Cys)
NM_021072.4(HCN1):c.763C>T (p.Arg255Cys) rs1745528455
NM_021098.3(CACNA1H):c.1654C>T (p.Arg552Ter)
NM_021098.3(CACNA1H):c.3434G>A (p.Trp1145Ter)
NM_032119.4(ADGRV1):c.3509A>C (p.Tyr1170Ser) rs188772875
NM_052874.5(STX1B):c.105+1_105+2delinsAA
NM_052874.5(STX1B):c.106-1G>C rs2056626672
NM_052874.5(STX1B):c.160A>T (p.Lys54Ter) rs2143677745
NM_052874.5(STX1B):c.205+1G>A rs2143677612
NM_052874.5(STX1B):c.205+2T>C
NM_052874.5(STX1B):c.205+2_205+3del rs2056625682
NM_052874.5(STX1B):c.281-2A>C rs2143671063
NM_052874.5(STX1B):c.281-41_294del rs2056602388
NM_052874.5(STX1B):c.293G>A (p.Ser98Asn) rs781210585
NM_052874.5(STX1B):c.30+1G>A
NM_052874.5(STX1B):c.315_321dup (p.Ser108fs)
NM_052874.5(STX1B):c.344G>C (p.Arg115Pro) rs868539367
NM_052874.5(STX1B):c.345dup (p.Lys116fs)
NM_052874.5(STX1B):c.354+1G>A rs1596717264
NM_052874.5(STX1B):c.354+2T>C rs2143670818
NM_052874.5(STX1B):c.355-1G>A
NM_052874.5(STX1B):c.355-1_355delinsAA
NM_052874.5(STX1B):c.355-2A>G rs2143669495
NM_052874.5(STX1B):c.464-1G>T
NM_052874.5(STX1B):c.655_660dup (p.Met220_Leu221insAlaMet)
NM_052874.5(STX1B):c.676-2A>G rs2056573081
NM_052874.5(STX1B):c.686_688del (p.Ile229_Asp230delinsAsn) rs1596714579
NM_052874.5(STX1B):c.701_702insACATTGACCG (p.Tyr234Ter) rs2143661528
NM_052874.5(STX1B):c.823G>A (p.Gly275Arg) rs1596714308
NM_052874.5(STX1B):c.852dup (p.Thr285fs) rs762705451
NM_080552.3(SLC32A1):c.1382G>A (p.Gly461Asp) rs2084286884
NM_080552.3(SLC32A1):c.1391C>G (p.Thr464Arg) rs2084286911
NM_080552.3(SLC32A1):c.1403T>C (p.Leu468Pro) rs2084286998
NM_080552.3(SLC32A1):c.989T>C (p.Met330Thr) rs2084284179
NM_130811.4(SNAP25):c.142G>T (p.Val48Phe) rs797044873
NM_198904.4(GABRG2):c.1001C>T (p.Ala334Val) rs1415043929
NM_198904.4(GABRG2):c.1061G>T (p.Gly354Val) rs1060501888
NM_198904.4(GABRG2):c.107+1G>A rs1758364128
NM_198904.4(GABRG2):c.1217_1218del (p.Gln406fs) rs1554101202
NM_198904.4(GABRG2):c.245G>T (p.Arg82Leu)
NM_198904.4(GABRG2):c.247C>A (p.Pro83Thr)
NM_198904.4(GABRG2):c.248C>T (p.Pro83Leu) rs1760808499
NM_198904.4(GABRG2):c.259+1G>C rs2113298764
NM_198904.4(GABRG2):c.259+2T>A rs2113298770
NM_198904.4(GABRG2):c.259+2T>C rs2113298770
NM_198904.4(GABRG2):c.259+5G>T rs2113298784
NM_198904.4(GABRG2):c.260-1G>A rs2113309064
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_198904.4(GABRG2):c.328-1G>A
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys) rs2113325423
NM_198904.4(GABRG2):c.374G>A (p.Arg125His)
NM_198904.4(GABRG2):c.434T>A (p.Ile145Asn)
NM_198904.4(GABRG2):c.496_498dup (p.Pro166dup) rs2113326854
NM_198904.4(GABRG2):c.501C>A (p.Asn167Lys) rs1581351046
NM_198904.4(GABRG2):c.542C>G (p.Thr181Ser)
NM_198904.4(GABRG2):c.549-1G>T
NM_198904.4(GABRG2):c.631+1G>T
NM_198904.4(GABRG2):c.631+2T>C
NM_198904.4(GABRG2):c.632-2A>T rs2113370272
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter) rs1045493304
NM_198904.4(GABRG2):c.704G>A (p.Trp235Ter) rs1554098226
NM_198904.4(GABRG2):c.859G>A (p.Val287Ile) rs1764624249
NM_198904.4(GABRG2):c.916_922+8del rs2113599162
NM_198904.4(GABRG2):c.941C>A (p.Thr314Lys)
NM_198904.4(GABRG2):c.962T>C (p.Ile321Thr) rs1765175867
NM_198904.4(GABRG2):c.967C>G (p.Arg323Gly) rs796052510

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