ClinVar Miner

List of variants in gene CEL reported as likely benign for Maturity-onset diabetes of the young type 8

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001807.6(CEL):c.1833G>C (p.Gly611=) rs1211933243 0.00547
NM_001807.6(CEL):c.402C>G (p.Gly134=) rs150358550 0.00392
NM_001807.6(CEL):c.1716C>G (p.Pro572=) rs200152972 0.00106
NM_001807.6(CEL):c.1689A>G (p.Thr563=) rs199941432 0.00077
NM_001807.6(CEL):c.1692G>T (p.Gly564=) rs200716123 0.00077
NM_001807.6(CEL):c.554G>A (p.Arg185Gln) rs141665160 0.00075
NM_001807.6(CEL):c.1335C>T (p.Pro445=) rs371892814 0.00073
NM_001807.6(CEL):c.777+7G>A rs200749469 0.00038
NM_001807.6(CEL):c.1677T>C (p.Pro559=) rs527908529 0.00018
NM_001807.6(CEL):c.132T>C (p.Gly44=) rs543591885 0.00014
NM_001807.6(CEL):c.358G>A (p.Val120Ile) rs201336247 0.00011
NM_001807.6(CEL):c.670-4G>A rs371303105 0.00006
NM_001807.6(CEL):c.73G>A (p.Ala25Thr) rs779607772 0.00005
NM_001807.6(CEL):c.2184_2216del (p.Gly729_Thr739del)
NM_001807.6(CEL):c.2184_2216dup (p.Thr739_Asp740insGlyAspSerGluAlaAlaProValProProThr)
NM_001807.6(CEL):c.466_479del (p.Val156fs) rs572853045
NM_001807.6(CEL):c.850C>G (p.Arg284Gly) rs369868891
NM_001807.6(CEL):c.99G>C (p.Val33=) rs199971842

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.