List of variants in gene SCN1A reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=)	rs6432860	0.73885
NM_001165963.4(SCN1A):c.2176+17A>G	rs59251406	0.03846
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=)	rs61741123	0.03029
NM_001165963.4(SCN1A):c.1662+9C>A	rs7559148	0.02030
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=)	rs144679294	0.00321
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp)	rs148442069	0.00011
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter)	rs794726799
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)	rs121917927
NM_001165963.4(SCN1A):c.2589+3A>T	rs794726775
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys)	rs121918775
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)	rs121917984

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