List of variants reported as pathogenic for epilepsy by Institute of Immunology and Genetics Kaiserslautern

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys)	rs1135401736	0.00001
NM_000814.6(GABRB3):c.76C>T (p.Gln26Ter)
NM_001032221.6(STXBP1):c.103C>T (p.Gln35Ter)
NM_001032221.6(STXBP1):c.236del (p.Pro79fs)
NM_001040142.2(SCN2A):c.3703C>T (p.Arg1235Ter)	rs1085307500
NM_001040142.2(SCN2A):c.605+1G>C
NM_001165963.4(SCN1A):c.1169T>C (p.Leu390Pro)	rs746413385
NM_001165963.4(SCN1A):c.434T>C (p.Met145Thr)	rs121918631
NM_006306.4(SMC1A):c.1486C>T (p.Arg496Cys)	rs2075701790
NM_014687.4(RUBCN):c.2647-2A>G

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