List of variants reported as likely pathogenic for epilepsy by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001182.5(ALDH7A1):c.1232C>T (p.Pro411Leu)	rs780233639	0.00001
NM_001032221.6(STXBP1):c.1061G>A (p.Cys354Tyr)	rs796053365
NM_001040142.2(SCN2A):c.5311T>A (p.Tyr1771Asn)
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001165963.4(SCN1A):c.1037C>T (p.Pro346Leu)	rs2105868295
NM_001165963.4(SCN1A):c.505T>C (p.Ser169Pro)	rs796052957
NM_004366.6(CLCN2):c.1550C>T (p.Thr517Met)	rs1458831101
NM_005249.5(FOXG1):c.635T>C (p.Met212Thr)	rs2138661267

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.