ClinVar Miner

List of variants in gene CENPJ reported as likely benign for Seckel syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_018451.5(CENPJ):c.1430C>T (p.Thr477Met) rs193181742
NM_018451.5(CENPJ):c.2298T>A (p.Asp766Glu) rs79951875
NM_018451.5(CENPJ):c.2571C>G (p.Ser857Arg) rs78628025
NM_018451.5(CENPJ):c.2852A>G (p.Gln951Arg) rs138675304
NM_018451.5(CENPJ):c.600G>T (p.Gln200His) rs200061825
NM_018451.5(CENPJ):c.646T>C (p.Cys216Arg) rs143260721
NM_018451.5(CENPJ):c.656C>T (p.Pro219Leu) rs139844197

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.