ClinVar Miner

Variants in gene COL18A1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.107-12210C>G rs201773944 0.00068
NM_001379500.1(COL18A1):c.1882G>A (p.Ala628Thr) rs181012655 0.00066
NM_001379500.1(COL18A1):c.107-12197G>A rs200284308 0.00063
NM_001379500.1(COL18A1):c.1687G>A (p.Ala563Thr) rs201476017 0.00029
NM_001379500.1(COL18A1):c.1452G>T (p.Arg484=) rs373106775 0.00021
NM_001379500.1(COL18A1):c.1248G>A (p.Pro416=) rs185296216 0.00012
NM_001379500.1(COL18A1):c.2214C>T (p.Pro738=) rs199910738 0.00009
NM_001379500.1(COL18A1):c.651+17C>T rs578202936 0.00007
NM_001379500.1(COL18A1):c.651+6C>G rs755778352 0.00004
NM_001379500.1(COL18A1):c.1221+12C>T rs765348415 0.00003
NM_001379500.1(COL18A1):c.107-12491C>T rs749001958 0.00001
NM_001379500.1(COL18A1):c.107-12112_107-12111delinsTT rs1555853999
NM_001379500.1(COL18A1):c.107-12195G>A rs62000960
NM_001379500.1(COL18A1):c.156G>A (p.Pro52=)
NM_001379500.1(COL18A1):c.1791TGGGCCCCC[1] (p.594PGP[3]) rs764710670
NM_001379500.1(COL18A1):c.654G>T (p.Gly218=)

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.