List of variants reported as likely pathogenic for childhood-onset epilepsy syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000016.9:g.(180591_188148)_(188672_?)del
NC_000022.10:g.32217598_(32218777_32229900)del
NM_001077350.3(NPRL3):c.1184_1188del (p.Val395fs)
NM_001134407.3(GRIN2A):c.703G>T (p.Glu235Ter)	rs2044763223
NM_001271.4(CHD2):c.1154-1G>T
NM_001271.4(CHD2):c.2764del (p.Glu922fs)	rs2141844216

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.