ClinVar Miner

List of variants in gene COL3A1 reported as likely benign for Connective tissue disorder

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_000090.3(COL3A1):c.1128C>T (p.His376=) rs771015742
NM_000090.3(COL3A1):c.114C>G (p.Ser38=) rs141241764
NM_000090.3(COL3A1):c.1815+16C>T rs1559057656
NM_000090.3(COL3A1):c.219C>T (p.Asp73=) rs886038228
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000090.3(COL3A1):c.3132C>T (p.Gly1044=) rs369992399
NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.3(COL3A1):c.3525+19delG rs138061246
NM_000090.3(COL3A1):c.528+12T>C rs1057523141
NM_000090.3(COL3A1):c.706C>T (p.Pro236Ser) rs771858477
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887

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.