List of variants reported as pathogenic for Epileptic encephalopathy by NIHR Bioresource Rare Diseases, University of Cambridge

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: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000009.12:g.127681712_127692172del
NM_001032221.6(STXBP1):c.1249+1G>A	rs1057519189
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs)	rs794726754
NM_003931.3(WASF1):c.1558C>T (p.Gln520Ter)	rs1562159088
NM_172107.4(KCNQ2):c.845A>T (p.Asp282Val)	rs1600755440

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.