List of variants in gene SCN1A reported as pathogenic for SCN1A-related disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His)	rs398123588	0.00001
NM_001165963.4(SCN1A):c.1047T>G (p.Tyr349Ter)	rs1369404945
NM_001165963.4(SCN1A):c.1048_1049del (p.Met350fs)	rs2468190357
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter)	rs794726736
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)	rs794726730
NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter)	rs794726697
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met)	rs121918623
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys)	rs121918788

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