ClinVar Miner

List of variants reported as likely pathogenic for Epileptic encephalopathy, early infantile, 33

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NC_000020.10:g.(?_62069958)_(62119798_?)del
NM_001958.4(EEF1A2):c.1141C>T (p.Arg381Trp) rs1568994522
NM_001958.4(EEF1A2):c.1150G>C (p.Gly384Arg) rs1555883384
NM_001958.4(EEF1A2):c.1267C>T (p.Arg423Cys) rs886039346
NM_001958.4(EEF1A2):c.364G>A (p.Glu122Lys) rs786205866
NM_001958.4(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_001958.4(EEF1A2):c.863A>G (p.Glu288Gly) rs1555883501

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.