ClinVar Miner

List of variants in gene combination CENPJ, RNF17 reported as pathogenic for Seckel syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
Download table as spreadsheet
HGVS dbSNP
NM_018451.5(CENPJ):c.3302-1G>C rs864321658
NM_018451.5(CENPJ):c.3936_3939del (p.His1313fs) rs1060499557

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.