List of variants reported as pathogenic for epilepsy by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)	rs144332569	0.00009
NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter)	rs387906726
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val)	rs794726860
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004975.4(KCNB1):c.1528G>T (p.Gly510Ter)	rs1601070652
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys)	rs1554616628
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)

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.