List of variants reported as pathogenic for Seizures, benign familial neonatal, 1 by OMIM

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_172107.4(KCNQ2):c.1662G>T (p.Lys554Asn)	rs267607198
NM_172107.4(KCNQ2):c.1680_1684dup (p.Tyr562fs)	rs118192231
NM_172107.4(KCNQ2):c.1930del (p.Tyr644fs)	rs118192241
NM_172107.4(KCNQ2):c.2127del (p.Val710fs)	rs118192244
NM_172107.4(KCNQ2):c.584_593delinsA (p.Ser195_Arg198delinsTer)	rs118192197
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp)	rs28939684
NM_172107.4(KCNQ2):c.851A>G (p.Tyr284Cys)	rs28939683
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr)	rs74315390

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