ClinVar Miner

List of variants in gene COL11A2 reported as likely pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NC_000006.12:g.33167081delT
NM_080680.2(COL11A2):c.1719+3dup rs1554220864
NM_080680.2(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952
NM_080680.2(COL11A2):c.1879C>T (p.Arg627Ter) rs374156844
NM_080680.2(COL11A2):c.2179G>T (p.Gly727Ter) rs768569721
NM_080680.2(COL11A2):c.2583+1G>A rs1554218503
NM_080680.2(COL11A2):c.3058C>T (p.Arg1020Ter) rs911722283
NM_080680.2(COL11A2):c.529C>T (p.Arg177Ter) rs764450149
NM_080680.2(COL11A2):c.654T>A (p.Tyr218Ter) rs786205578
NM_080680.2(COL11A2):c.982C>T (p.Gln328Ter) rs1554223504

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.