List of variants reported as risk factor for idiopathic generalized epilepsy

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser)	rs25409	0.00354
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)	rs1805031	0.00074
NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln)	rs137852682	0.00047
NM_021912.5(GABRB3):c.44C>T (p.Ser15Phe)	rs121913126	0.00016
NM_018100.4(EFHC1):c.628G>A (p.Asp210Asn)	rs137852777	0.00005
NM_018100.4(EFHC1):c.757G>T (p.Asp253Tyr)	rs137852778	0.00002
NM_021098.3(CACNA1H):c.2491G>A (p.Val831Met)	rs119454949	0.00002
NM_021098.3(CACNA1H):c.844G>A (p.Glu282Lys)	rs119454948	0.00001
NC_000005.10:g.162537506_162537507insTGTTTACTAAACAAAAAGAAAGAGC	rs587777363
NM_000814.6(GABRB3):c.94G>A (p.Gly32Arg)	rs71651682
NM_001127644.2(GABRA1):c.655G>A (p.Asp219Asn)	rs587777364
NM_001127644.2(GABRA1):c.965C>A (p.Ala322Asp)	rs121434579
NM_001127644.2(GABRA1):c.975del (p.Ser326fs)	rs1581220270
NM_018100.4(EFHC1):c.520A>G (p.Ile174Val)	rs137852779
NM_018100.4(EFHC1):c.776G>A (p.Cys259Tyr)	rs137852780
NM_018100.4(EFHC1):c.883C>T (p.Gln295Ter)	rs137852781
NM_021098.2(CACNA1H):c.[2318G>A;2362C>T]
NM_021098.3(CACNA1H):c.483C>A (p.Phe161Leu)	rs119454947

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