ClinVar Miner

List of variants reported as pathogenic for Desbuquois dysplasia 1 by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001159773.2(CANT1):c.228dup (p.Trp77fs) rs587776896 0.00006
NM_001159773.2(CANT1):c.277_278del (p.Leu93fs) rs587776897 0.00006
NM_001159773.2(CANT1):c.671T>C (p.Leu224Pro) rs150181226 0.00004
NM_001159773.2(CANT1):c.676G>A (p.Val226Met) rs377546036 0.00004
NM_001159773.2(CANT1):c.-147+1G>A rs587776951 0.00001
NM_001159773.2(CANT1):c.896C>T (p.Pro299Leu) rs267606700 0.00001
NM_001159773.2(CANT1):c.898C>T (p.Arg300Cys) rs267606701 0.00001
NM_001159773.2(CANT1):c.899G>A (p.Arg300His) rs267606699 0.00001
5'UTR-exon 1 deletion (2703 bp)
NM_001159773.2(CANT1):c.1079C>A (p.Ala360Asp) rs387907081
NM_001159773.2(CANT1):c.374G>A (p.Trp125Ter) rs267606702
NM_001159773.2(CANT1):c.375G>C (p.Trp125Cys) rs587776898
NM_001159773.2(CANT1):c.643G>A (p.Glu215Lys) rs773215035
NM_001159773.2(CANT1):c.734del (p.Pro245fs) rs587776509
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs) rs587776895
NM_001159773.2(CANT1):c.909_910insGCCGC (p.Gln304fs) rs587776510

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.