ClinVar Miner

List of variants studied for genetic generalized epilepsy by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488 0.00114
NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile) rs780360360 0.00004
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001037.5(SCN1B):c.448+124G>A rs367608185 0.00001
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val) rs915676341 0.00001
NM_052874.5(STX1B):c.845T>C (p.Ile282Thr) rs763428520 0.00001
NM_198904.4(GABRG2):c.1108G>T (p.Asp370Tyr) rs1415854808 0.00001
NM_198904.4(GABRG2):c.372A>T (p.Arg124Ser) rs754884716 0.00001
NM_000388.4(CASR):c.2122G>A (p.Ala708Thr) rs2074931493
NM_000814.6(GABRB3):c.486G>C (p.Met162Ile) rs2140737836
NM_000814.6(GABRB3):c.880C>T (p.Arg294Trp)
NM_001037.5(SCN1B):c.254G>T (p.Arg85Leu)
NM_001165963.1:c.(3429+1_3430-1)_(4002+1_4003-1)del
NM_001165963.4(SCN1A):c.1465_1480del (p.Ser490fs) rs2105851922
NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)
NM_001165963.4(SCN1A):c.2839G>A (p.Val947Met) rs796052986
NM_001165963.4(SCN1A):c.350T>C (p.Leu117Pro) rs1064796384
NM_001165963.4(SCN1A):c.3686T>C (p.Leu1229Pro) rs1692861040
NM_001165963.4(SCN1A):c.3705+1G>A rs794726744
NM_001165963.4(SCN1A):c.3967C>A (p.Pro1323Thr)
NM_001165963.4(SCN1A):c.4220G>A (p.Arg1407Gln) rs1691045272
NM_001165963.4(SCN1A):c.4284+4A>C rs1691026372
NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg) rs121918789
NM_001165963.4(SCN1A):c.4417T>C (p.Phe1473Leu) rs1690331351
NM_001165963.4(SCN1A):c.4489G>A (p.Asp1497Asn) rs2105462657
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.4795T>G (p.Tyr1599Asp) rs1689679432
NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His) rs121917994
NM_001165963.4(SCN1A):c.5161A>C (p.Thr1721Pro)
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs) rs794726726
NM_001165963.4(SCN1A):c.5594T>C (p.Leu1865Pro) rs2105425720
NM_001165963.4(SCN1A):c.5653C>G (p.Leu1885Val) rs1689164800
NM_001165963.4(SCN1A):c.5691T>G (p.Asn1897Lys) rs1689157351
NM_001165963.4(SCN1A):c.629G>A (p.Gly210Asp) rs1698747852
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.833T>A (p.Ile278Lys) rs1559238215
NM_001165963.4(SCN1A):c.841C>T (p.Pro281Ser) rs1553549660
NM_001165963.4(SCN1A):c.986del (p.Gly329fs) rs1698186316
NM_021072.4(HCN1):c.1283G>A (p.Arg428His) rs1265198753
NM_021072.4(HCN1):c.1322G>A (p.Gly441Asp) rs1746946512
NM_021072.4(HCN1):c.299C>T (p.Ser100Phe) rs587777492
NM_052874.5(STX1B):c.205+5G>A rs2056625628
NM_052874.5(STX1B):c.345dup (p.Lys116fs)
NM_052874.5(STX1B):c.354+1G>C
NM_052874.5(STX1B):c.701_702insACATTGACCG (p.Tyr234Ter) rs2143661528
NM_080552.3(SLC32A1):c.1232A>T (p.Gln411Leu)
NM_080552.3(SLC32A1):c.787G>A (p.Val263Met) rs2145649990
NM_198904.4(GABRG2):c.108-1G>T
NM_198904.4(GABRG2):c.1358C>T (p.Ala453Val) rs2113651364
NM_198904.4(GABRG2):c.403C>T (p.Leu135Phe) rs74930063
NM_198904.4(GABRG2):c.471del (p.Ala158fs) rs1554097890
NM_198904.4(GABRG2):c.631+2T>C
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter) rs1045493304
NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp) rs796052510

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