ClinVar Miner

List of variants in gene COL11A1 reported as uncertain significance for Connective tissue disorder

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_001854.4(COL11A1):c.1350+11G>A
NM_001854.4(COL11A1):c.1570C>G (p.Arg524Gly) rs771139447
NM_001854.4(COL11A1):c.2480C>T (p.Pro827Leu) rs1252968708
NM_001854.4(COL11A1):c.2537C>T (p.Pro846Leu) rs1308067070
NM_001854.4(COL11A1):c.2804C>A (p.Pro935His) rs368422725
NM_001854.4(COL11A1):c.2916+3A>G rs200515572
NM_001854.4(COL11A1):c.328G>A (p.Gly110Arg) rs141978499
NM_001854.4(COL11A1):c.4876C>T (p.Pro1626Ser) rs377036654

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.