List of variants in gene SCN1A studied for Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.1037C>T (p.Pro346Leu)	rs2105868295
NM_001165963.4(SCN1A):c.1133del (p.Leu378fs)	rs1698004184
NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn)	rs1057518703
NM_001165963.4(SCN1A):c.2043+1G>A	rs751533302
NM_001165963.4(SCN1A):c.2415+3A>G
NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly)	rs1684663181
NM_001165963.4(SCN1A):c.2483_2484del (p.Phe828fs)
NM_001165963.4(SCN1A):c.3076del (p.Tyr1025_Val1026insTer)
NM_001165963.4(SCN1A):c.36del (p.Asp12fs)	rs1684704927
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)	rs121917984

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