ClinVar Miner

List of variants reported as likely pathogenic for idiopathic generalized epilepsy

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
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_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_032119.4(ADGRV1):c.9214G>A (p.Gly3072Ser) rs757560169 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_000005.10:g.(?_162142144)_(162153388_?)del
NC_000005.9:g.(?_161292707)_(161495132_?)del
NC_000005.9:g.(?_161520814)_(161531052_?)dup
NM_000814.6(GABRB3):c.146A>G (p.Asp49Gly) rs2140199587
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.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.917T>C (p.Ile306Thr) rs1889965425
NM_000814.6(GABRB3):c.982A>C (p.Asn328His) rs2140679963
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_001348946.2(ABCB1):c.2678C>A (p.Ser893Tyr) rs2117129739
NM_004366.6(CLCN2):c.1550C>T (p.Thr517Met) rs1458831101
NM_004366.6(CLCN2):c.1705G>A (p.Gly569Ser)
NM_004366.6(CLCN2):c.1885C>T (p.Arg629Cys)
NM_004366.6(CLCN2):c.668_672del (p.Leu223fs) rs756385625
NM_004366.6(CLCN2):c.73C>T (p.Arg25Trp)
NM_021098.3(CACNA1H):c.1654C>T (p.Arg552Ter)
NM_032119.4(ADGRV1):c.3509A>C (p.Tyr1170Ser) rs188772875
NM_130811.4(SNAP25):c.142G>T (p.Val48Phe) rs797044873
NM_198904.4(GABRG2):c.1061G>T (p.Gly354Val) rs1060501888
NM_198904.4(GABRG2):c.107+1G>A rs1758364128
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.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.769+1G>A rs2113371247
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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