ClinVar Miner

List of variants in gene COL3A1 reported as uncertain significance for Cardiovascular phenotype

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.1424C>T (p.Ala475Val) rs770168441 0.00004
NM_000090.4(COL3A1):c.4073G>A (p.Arg1358Gln) rs745656610 0.00002
NM_000090.4(COL3A1):c.4300C>T (p.Arg1434Cys) rs747324731 0.00001
NM_000090.4(COL3A1):c.508G>A (p.Ala170Thr) rs374476865 0.00001
NM_000090.4(COL3A1):c.1232G>A (p.Gly411Glu) rs886038816
NM_000090.4(COL3A1):c.2022+4G>A rs886038865
NM_000090.4(COL3A1):c.2519G>T (p.Gly840Val) rs886038895
NM_000090.4(COL3A1):c.2927T>C (p.Val976Ala) rs886038939
NM_000090.4(COL3A1):c.3205C>T (p.Pro1069Ser) rs200122671

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.