List of variants studied for seizures, benign familial neonatal, 1 by Génétique des Maladies du Développement, Hospices Civils de Lyon

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter)	rs118192236	0.00001
NM_152296.5(ATP1A3):c.1115del (p.Thr372fs)	rs2145972429
NM_172107.4(KCNQ2):c.1093C>T (p.Arg365Ter)
NM_172107.4(KCNQ2):c.1229del (p.Pro410fs)	rs886041339
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs)	rs886041339
NM_172107.4(KCNQ2):c.1411C>T (p.Gln471Ter)
NM_172107.4(KCNQ2):c.1638G>A (p.Met546Ile)	rs2080191127
NM_172107.4(KCNQ2):c.1663T>C (p.Phe555Leu)
NM_172107.4(KCNQ2):c.2048_2049del (p.His683fs)
NM_172107.4(KCNQ2):c.2315del (p.Pro772fs)	rs2079959227
NM_172107.4(KCNQ2):c.2425C>T (p.Gln809Ter)
NM_172107.4(KCNQ2):c.388-2A>G	rs2145779858
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.507_514+10del	rs2081377258
NM_172107.4(KCNQ2):c.668_669del (p.Ser223fs)
NM_172107.4(KCNQ2):c.955A>G (p.Lys319Glu)	rs2145712576

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