ClinVar Miner

List of variants in gene COL1A1 reported by Institute of Human Genetics, Cologne University

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000088.3(COL1A1):c.3124_3160del (p.Ala1042fs) rs1567754589
NM_000088.4(COL1A1):c.1004G>T (p.Gly335Val)
NM_000088.4(COL1A1):c.1399G>A (p.Gly467Arg) rs2144573313
NM_000088.4(COL1A1):c.1922G>T (p.Gly641Val) rs1598293646
NM_000088.4(COL1A1):c.1984-1G>T rs2144561474
NM_000088.4(COL1A1):c.2182G>T (p.Gly728Ter) rs72651648
NM_000088.4(COL1A1):c.2641G>A (p.Gly881Ser) rs765659555
NM_000088.4(COL1A1):c.2668-2A>G rs2144550759
NM_000088.4(COL1A1):c.3014T>A (p.Leu1005Ter) rs2144547622
NM_000088.4(COL1A1):c.3270del (p.Gly1091fs) rs1555572125
NM_000088.4(COL1A1):c.572G>T (p.Gly191Val) rs67828806

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.