ClinVar Miner

List of variants in gene COL3A1 reported as likely pathogenic by Blueprint Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.2689G>A (p.Gly897Ser) rs794728054 0.00001
NM_000090.4(COL3A1):c.1232G>A (p.Gly411Glu) rs886038816
NM_000090.4(COL3A1):c.1977+5G>A rs1553508544
NM_000090.4(COL3A1):c.2042G>A (p.Gly681Asp) rs1173194734
NM_000090.4(COL3A1):c.2123G>T (p.Gly708Val) rs111929073
NM_000090.4(COL3A1):c.2536G>A (p.Gly846Arg) rs1576470032
NM_000090.4(COL3A1):c.3212G>T (p.Gly1071Val) rs587779709
NM_000090.4(COL3A1):c.898G>C (p.Gly300Arg) rs587779481

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.