ClinVar Miner

List of variants in gene COL18A1 reported by Gharavi Laboratory, Columbia University

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.1765G>A (p.Gly589Arg) rs906225803 0.00001
NM_001379500.1(COL18A1):c.1739G>T (p.Gly580Val) rs1568916889
NM_001379500.1(COL18A1):c.1894C>T (p.Gln632Ter) rs1209249150
NM_001379500.1(COL18A1):c.1924-1G>C rs1568919581
NM_001379500.1(COL18A1):c.2473del (p.Glu825fs) rs1568927636
NM_030582.4(COL18A1):c.1278+5_1278+8del rs1568898560

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.