List of variants reported as benign for epilepsy by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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
NM_001182.4(ALDH7A1):c.-60G>A	rs144272515	0.03685
NM_007254.4(PNKP):c.1189-10del	rs3739205	0.02593
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser)	rs3739168	0.00946
NM_007254.4(PNKP):c.1127-8C>T	rs3739203	0.00901
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His)	rs114095081	0.00702
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)	rs3739185

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.