List of variants reported as pathogenic for adolescent-onset epilepsy syndrome by Mendelics

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001134407.3(GRIN2A):c.1510C>T (p.Arg504Trp)	rs1360906241	0.00003
NM_153033.5(KCTD7):c.251G>A (p.Arg84Gln)	rs200575329	0.00002
NM_153033.5(KCTD7):c.281G>A (p.Arg94Gln)	rs984651812	0.00001
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His)	rs727502818
NM_001122752.2(SERPINI1):c.1174G>C (p.Gly392Arg)	rs121909054
NM_001134407.3(GRIN2A):c.4320del (p.Thr1441fs)	rs2141124790
NM_001161352.2(KCNMA1):c.1437del (p.Lys480fs)	rs2153773364
NM_006545.5(NPRL2):c.932+1G>A	rs1703621639
NM_006922.4(SCN3A):c.5295G>A (p.Met1765Ile)	rs2105619771

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.