List of variants reported as pathogenic for epilepsy by Breakthrough Genomics, Breakthrough Genomics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001040142.2(SCN2A):c.1831_1832del (p.Leu611fs)	rs1698166561
NM_001040142.2(SCN2A):c.2809C>T (p.Arg937Cys)	rs796053197
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001323289.2(CDKL5):c.1415_1416del (p.Thr472fs)
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)

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