ClinVar Miner

List of variants reported as pathogenic for Spondylocostal dysostosis 1, autosomal recessive

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_203486.3(DLL3):c.945_946del (p.Ala317fs) rs786200900 0.00004
NM_203486.3(DLL3):c.1136G>A (p.Cys379Tyr) rs786205519 0.00003
NM_203486.3(DLL3):c.1511G>A (p.Gly504Asp) rs104894676 0.00002
NM_203486.3(DLL3):c.712C>T (p.Arg238Ter) rs104894675 0.00001
NM_203486.3(DLL3):c.1154G>A (p.Gly385Asp) rs104894674
NM_203486.3(DLL3):c.1291_1307dup (p.Pro437fs) rs777791545
NM_203486.3(DLL3):c.1339_1340insT (p.His447fs)
NM_203486.3(DLL3):c.1440del (p.Pro481fs) rs786200903
NM_203486.3(DLL3):c.395del (p.Gly132fs) rs761454301
NM_203486.3(DLL3):c.599_603dup (p.Pro202fs) rs786200899
NM_203486.3(DLL3):c.618del (p.Cys207fs) rs786200902
NM_203486.3(DLL3):c.871-1G>A rs2144761828

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.