List of variants studied for benign neonatal seizures by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_172107.4(KCNQ2):c.1218-18T>G	rs908502131	0.00001
NM_172107.4(KCNQ2):c.1565G>A (p.Ser522Asn)	rs2080212237	0.00001
NM_004519.4(KCNQ3):c.1199G>A (p.Arg400Lys)	rs943073757
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)	rs796052676
NM_172107.4(KCNQ2):c.1763+2C>G	rs1360809225
NM_172107.4(KCNQ2):c.2260G>C (p.Ala754Pro)	rs773822234
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu)	rs74315392
NM_172107.4(KCNQ2):c.766G>T (p.Gly256Trp)	rs1057518500

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.