List of variants in gene SCN1A reported as likely pathogenic by MGZ Medical Genetics Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.1685_1688del (p.Ser562fs)	rs2468156232
NM_001165963.4(SCN1A):c.264+5G>A	rs794726762
NM_001165963.4(SCN1A):c.2815del (p.His939fs)	rs2468096854
NM_001165963.4(SCN1A):c.2879T>A (p.Met960Lys)	rs794726708
NM_001165963.4(SCN1A):c.566del (p.Pro189fs)	rs1553551385

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