ClinVar Miner

List of variants in gene COL6A2 reported as likely pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_001849.3(COL6A2):c.1037_1038delGAinsTT (p.Gly346Val)
NM_001849.3(COL6A2):c.1063G>T (p.Gly355Cys) rs794727061
NM_001849.3(COL6A2):c.1162G>A (p.Gly388Arg) rs727503883
NM_001849.3(COL6A2):c.1770+1delG rs886044215
NM_001849.3(COL6A2):c.803G>A (p.Gly268Asp) rs397515333
NM_001849.3(COL6A2):c.838G>A (p.Gly280Ser) rs886043323
NM_001849.3(COL6A2):c.838G>C (p.Gly280Arg) rs886043323
NM_001849.3(COL6A2):c.848G>A (p.Gly283Glu) rs886044088
NM_001849.3(COL6A2):c.857G>A (p.Gly286Glu) rs727502827
NM_001849.3(COL6A2):c.857G>T (p.Gly286Val) rs727502827
NM_001849.3(COL6A2):c.866G>A (p.Gly289Asp) rs886043554
NM_001849.3(COL6A2):c.866G>T (p.Gly289Val)
NM_001849.3(COL6A2):c.893G>C (p.Gly298Ala)
NM_001849.3(COL6A2):c.920G>T (p.Gly307Val) rs886042541
NM_001849.3(COL6A2):c.955-1G>A rs886044265

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.