ClinVar Miner

List of variants reported as uncertain significance for Desbuquois dysplasia 1

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_001159773.2(CANT1):c.643G>T (p.Glu215Ter) rs773215035
NM_022166.4(XYLT1):c.1217G>A (p.Arg406Gln) rs1457612277
NM_022166.4(XYLT1):c.139G>C (p.Gly47Arg)
NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys) rs139179946
NM_022166.4(XYLT1):c.1813A>T (p.Asn605Tyr)
NM_022166.4(XYLT1):c.1982G>A (p.Arg661Gln)
NM_022166.4(XYLT1):c.1990G>A (p.Glu664Lys)
NM_022166.4(XYLT1):c.830G>T (p.Arg277Leu) rs751753807

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.