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

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp)	rs759584387
NM_172107.4(KCNQ2):c.1956dup (p.Thr653fs)	rs1601545088
NM_172107.4(KCNQ2):c.3G>A (p.Met1Ile)	rs866273848
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys)	rs796052623
NM_172107.4(KCNQ2):c.613A>G (p.Ile205Val)	rs1057516087
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp)	rs118192203
NM_172107.4(KCNQ2):c.638G>T (p.Arg213Leu)	rs397514581
NM_172107.4(KCNQ2):c.700A>G (p.Thr234Ala)	rs1057516091
NM_172107.4(KCNQ2):c.761A>C (p.Glu254Ala)	rs794727739
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)	rs118192212

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