ClinVar Miner

List of variants in gene SDCCAG8 studied for Senior-Loken syndrome 7

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp) rs2275155
NM_006642.5(SDCCAG8):c.1339dup (p.Glu447fs) rs387906218
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs) rs397515335
NM_006642.5(SDCCAG8):c.1575del (p.Glu526fs) rs1390963789
NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=) rs10927011
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val) rs776765317
NM_006642.5(SDCCAG8):c.1944_1945GT[1] (p.Cys649fs) rs397515336
NM_006642.5(SDCCAG8):c.221-2A>G rs797045946
NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter) rs797045947
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter) rs797045948
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337

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.