ClinVar Miner

List of variants reported as pathogenic for Short-rib thoracic dysplasia 1 with or without polydactyly by David Geffen School of Medicine,University of California, Los Angeles

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NM_016008.4(DYNC2LI1):c.1000G>T (p.Glu334Ter) rs879255655
NM_016008.4(DYNC2LI1):c.349C>G (p.Leu117Val) rs201948500
NM_016008.4(DYNC2LI1):c.372G>A (p.Trp124Ter) rs769975073
NM_016008.4(DYNC2LI1):c.993+1G>A rs374356079
NM_016008.4(DYNC2LI1):c.993+3A>G rs879255656

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.