ClinVar Miner

List of variants in gene COL3A1 reported as pathogenic for Cardiovascular phenotype

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_000090.3(COL3A1):c.1662+1G>A (p.Gly537_Pro554del) rs587779535
NM_000090.3(COL3A1):c.1763G>A (p.Gly588Asp) rs587779691
NM_000090.3(COL3A1):c.2096G>A (p.Gly699Asp) rs587779706
NM_000090.3(COL3A1):c.2221G>T (p.Gly741Cys) rs587779685
NM_000090.3(COL3A1):c.2392-2A>C rs1553508957
NM_000090.3(COL3A1):c.2642del (p.Pro881fs) rs886038920
NM_000090.3(COL3A1):c.3070C>T (p.Arg1024Ter) rs587779479
NM_000090.3(COL3A1):c.3325C>T (p.Arg1109Ter) rs112371422
NM_000090.3(COL3A1):c.3500_3501delinsAA (p.Gly1167Glu) rs886038925
NM_000090.3(COL3A1):c.3966_3972delinsTT (p.Glu1322fs) rs1553509869
NM_000090.3(COL3A1):c.611G>A (p.Gly204Asp) rs587779626
NM_000090.3(COL3A1):c.712C>T (p.Arg238Ter) rs1393544920
NM_000090.3(COL3A1):c.997-1G>C (p.Gly333_Lys350del+) rs587779687

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.