List of variants reported as pathogenic for epilepsy by Institute of Human Genetics, Heidelberg University

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His)	rs121918616
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs)	rs794726726
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met)	rs2053619460
NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser)	rs587777162
NM_006772.3(SYNGAP1):c.3319C>T (p.Gln1107Ter)	rs1554122368
NM_031844.3(HNRNPU):c.1463del (p.Pro488fs)
NM_031844.3(HNRNPU):c.1466del (p.Lys489fs)

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.