ClinVar Miner

List of variants in gene SPTAN1 reported as likely benign by Génétique des Maladies du Développement, Hospices Civils de Lyon

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.6406G>C (p.Glu2136Gln) rs755273355
NM_001130438.3(SPTAN1):c.6979G>A (p.Glu2327Lys) rs2132094752
NM_001130438.3(SPTAN1):c.7291A>G (p.Lys2431Glu) rs2132107869
NM_001130438.3(SPTAN1):c.980T>C (p.Leu327Pro) rs1851427709

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.