ClinVar Miner

List of variants in gene combination LOC102723692, XYLT1 reported as uncertain significance for Desbuquois dysplasia

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_022166.4(XYLT1):c.1588-3C>T rs201818754
NM_022166.4(XYLT1):c.1615A>G (p.Ser539Gly)
NM_022166.4(XYLT1):c.1747G>A (p.Asp583Asn)
NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys) rs139179946
NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys) rs587777367
NM_022166.4(XYLT1):c.1813A>T (p.Asn605Tyr) rs770446499
NM_022166.4(XYLT1):c.1982G>A (p.Arg661Gln) rs1275156523
NM_022166.4(XYLT1):c.1990G>A (p.Glu664Lys) rs573652692

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.