ClinVar Miner

List of variants in gene XYLT1 reported as pathogenic for Desbuquois dysplasia 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022166.4(XYLT1):c.1290-1G>A rs1567300982
NM_022166.4(XYLT1):c.1290-2A>C rs587777370
NM_022166.4(XYLT1):c.1441C>T (p.Arg481Trp) rs587777366
NM_022166.4(XYLT1):c.276dup (p.Pro93fs) rs587777369
NM_022166.4(XYLT1):c.281_306del (p.Gln94fs) rs1567215615
NM_022166.4(XYLT1):c.319G>T (p.Gly107Ter) rs1567215600
NW_019805500.1:g.472169CCG[(100-833)]

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.