List of variants in gene SCN2A reported as pathogenic for Seizures, benign familial infantile, 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001040142.2(SCN2A):c.562C>T (p.Arg188Trp)	rs121917748	0.00003
NM_001040142.2(SCN2A):c.1271T>G (p.Val424Gly)	rs796053181
NM_001040142.2(SCN2A):c.2627A>G (p.Asn876Ser)	rs1553579282
NM_001040142.2(SCN2A):c.2638G>A (p.Ala880Thr)	rs1574641522
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile)	rs121917751
NM_001040142.2(SCN2A):c.2854G>T (p.Glu952Ter)	rs1553579543
NM_001040142.2(SCN2A):c.2872A>G (p.Met958Val)	rs2105319172
NM_001040142.2(SCN2A):c.3007C>A (p.Leu1003Ile)	rs121917754
NM_001040142.2(SCN2A):c.3209dup (p.Asp1070fs)	rs2105337298
NM_001040142.2(SCN2A):c.3374del (p.Glu1125fs)	rs587780450
NM_001040142.2(SCN2A):c.3399+1del	rs2105337639
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys)	rs387906684
NM_001040142.2(SCN2A):c.3913dup (p.Leu1305fs)	rs1701138696
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)	rs121917753
NM_001040142.2(SCN2A):c.3988C>T (p.Leu1330Phe)	rs121917749
NM_001040142.2(SCN2A):c.3997G>T (p.Ala1333Ser)	rs796053132
NM_001040142.2(SCN2A):c.4316T>G (p.Leu1439Ter)	rs2105384553
NM_001040142.2(SCN2A):c.4517C>G (p.Ser1506Ter)	rs1287017958
NM_001040142.2(SCN2A):c.4687C>G (p.Leu1563Val)	rs121917750
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)	rs796053157
NM_001040142.2(SCN2A):c.4913G>C (p.Arg1638Pro)	rs1702006258
NM_001040142.2(SCN2A):c.507del (p.Glu169fs)	rs1574554892
NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly)	rs796053166
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)	rs1553567409
NM_001040142.2(SCN2A):c.634A>G (p.Asn212Asp)	rs2105244906
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln)	rs121917752
NM_001040142.2(SCN2A):c.754A>G (p.Met252Val)	rs387906687
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met)	rs1057520413
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)	rs387906686

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.