List of variants reported as pathogenic for epilepsy by Suma Genomics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001032221.6(STXBP1):c.578+1G>A	rs796053357
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)	rs121917929
NM_001323289.2(CDKL5):c.2152+1G>C
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln)	rs267606715
NM_014795.4(ZEB2):c.621dup (p.Ala208fs)
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser)	rs587777264

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