List of variants reported as pathogenic for Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
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)
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)

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