ClinVar Miner

List of variants reported as uncertain significance for Short-rib thoracic dysplasia 1 with or without polydactyly by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
Download table as spreadsheet
HGVS dbSNP
NM_001199397.2(NEK1):c.3410T>C (p.Leu1137Pro) rs1554020960
NM_012224.3(NEK1):c.2890+1G>T rs1561165983

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.