List of variants reported as pathogenic for epilepsy by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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: 22

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)	rs121912707	0.00024
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)	rs104894718	0.00003
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser)	rs587784299	0.00001
NM_006279.5(ST3GAL3):c.781C>T (p.Arg261Ter)	rs1195818093	0.00001
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)	rs61752992
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)	rs28934907
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)	rs61748404
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	rs28934906
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	rs61749721
NM_001110792.2(MECP2):c.842del (p.Gly281fs)	rs61750241
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)	rs61751362
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)	rs28935468
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter)	rs886039430
NM_001165963.4(SCN1A):c.2589+3A>T	rs794726775
NM_001165963.4(SCN1A):c.602+1G>A
NM_001242896.3(DEPDC5):c.1264C>T (p.Arg422Ter)	rs757511744
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter)	rs397514740
NM_001353921.2(ARHGEF9):c.928_935del (p.Ser310fs)
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser)	rs587777264
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln)	rs796052621
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)	rs796052505

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.