List of variants reported as pathogenic for Benign familial infantile epilepsy by Neurology Department, Shenzhen Children's Hospital

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_001040142.2(SCN2A):c.1307T>C (p.Leu436Ser)	rs1553569010
NM_001040142.2(SCN2A):c.1737C>G (p.Ser579Arg)	rs2105276771
NM_001040142.2(SCN2A):c.2870C>A (p.Thr957Asn)	rs2105319167
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.4432C>A (p.Gln1478Lys)	rs1553462132
NM_001040142.2(SCN2A):c.4610T>C (p.Ile1537Thr)	rs1553463038
NM_001040142.2(SCN2A):c.4835C>G (p.Ala1612Gly)	rs2105402019
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln)	rs121917752
NM_001040142.2(SCN2A):c.752T>C (p.Val251Ala)	rs2105247262

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.