List of variants reported as pathogenic for seizures, benign familial neonatal, 1 by GeneReviews

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NC_000020.11:g.(?_63413450)_(63415126_?)del
NM_172107.2(KCNQ2):c.1119-?_*382del
NM_172107.2(KCNQ2):c.297-?_1247+?del
NM_172107.2(KCNQ2):c.388-682_1118+?del
NM_172107.2(KCNQ2):c.388-?_1301+?del
NM_172107.2:c.1-?c.993+?del
NM_172107.4(KCNQ2):c.1228CCG[1] (p.Pro411del)	rs1060499544
NM_172107.4(KCNQ2):c.1680_1684dup (p.Tyr562fs)	rs118192231
NM_172107.4(KCNQ2):c.2318dup (p.Cys774fs)	rs1555850512
NM_172107.4(KCNQ2):c.2605_2609dup (p.Arg871fs)	rs118192246
nsv1197577

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