ClinVar Miner

List of variants reported as pathogenic for Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln) rs1376907797 0.00001
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
NM_001127644.2(GABRA1):c.1059+2T>C rs1755341108
NM_001127644.2(GABRA1):c.1070_1074del (p.Val357fs) rs2532295501
NM_001127644.2(GABRA1):c.176C>T (p.Pro59Leu) rs1064796448
NM_001127644.2(GABRA1):c.275T>C (p.Phe92Ser) rs2113380903
NM_001127644.2(GABRA1):c.296A>G (p.Asp99Gly) rs1754197638
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.365G>A (p.Trp122Ter) rs2532239421
NM_001127644.2(GABRA1):c.560-95_598del rs2532261315
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.778C>G (p.Pro260Ala)
NM_001127644.2(GABRA1):c.809T>G (p.Val270Gly) rs1755063375
NM_001127644.2(GABRA1):c.813del (p.Phe272fs) rs2113446665
NM_001127644.2(GABRA1):c.830A>G (p.Glu277Gly) rs2532280566
NM_001127644.2(GABRA1):c.839C>A (p.Pro280Gln) rs2532280628
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) rs2113464322
NM_001127644.2(GABRA1):c.881C>G (p.Thr294Arg) rs796052495
NM_001127644.2(GABRA1):c.914C>T (p.Pro305Leu) rs1755333582
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) rs2532292255

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