ClinVar Miner

List of variants in gene combination LOC102723692, XYLT1 reported as benign for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022166.4(XYLT1):c.1989C>T (p.Ala663=) rs12708815 0.51842
NM_022166.4(XYLT1):c.1994C>T (p.Thr665Met) rs79030430 0.01493
NM_022166.4(XYLT1):c.1743G>A (p.Pro581=) rs34653270 0.00640
NM_022166.4(XYLT1):c.1848G>C (p.Leu616=) rs150301505 0.00258
NM_022166.4(XYLT1):c.1854G>T (p.Gly618=) rs77836443 0.00230
NM_022166.4(XYLT1):c.1918G>A (p.Gly640Ser) rs146288199 0.00046
NM_022166.4(XYLT1):c.1626C>T (p.Cys542=) rs377097003 0.00006
NM_022166.4(XYLT1):c.1935C>T (p.Ser645=) rs543473631 0.00001
NM_022166.4(XYLT1):c.1588-28_1588-3dup rs545474455

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.