ClinVar Miner

List of variants in gene COL6A3 reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NM_004369.3(COL6A3):c.175C>T (p.Arg59Ter) rs398124119
NM_004369.3(COL6A3):c.2985_2988del (p.Ala996fs) rs1559253935
NM_004369.3(COL6A3):c.4124del (p.Gln1375fs) rs886042447
NM_004369.3(COL6A3):c.4366C>T (p.Arg1456Ter) rs781043870
NM_004369.3(COL6A3):c.4835C>A (p.Ser1612Ter) rs201532239
NM_004369.3(COL6A3):c.5010T>A (p.Tyr1670Ter) rs886042402
NM_004369.3(COL6A3):c.5838+1G>T rs1559234260
NM_004369.3(COL6A3):c.6064-2A>G rs1553554384
NM_004369.3(COL6A3):c.6157-2A>C rs886041434
NM_004369.3(COL6A3):c.6157G>T (p.Gly2053Cys) rs1559228507
NM_004369.3(COL6A3):c.6175G>T (p.Gly2059Cys) rs758124326
NM_004369.3(COL6A3):c.6210+1G>A rs398124126
NM_004369.3(COL6A3):c.6220G>A (p.Gly2074Ser) rs886044252
NM_004369.3(COL6A3):c.6230G>A (p.Gly2077Asp) rs1553553646
NM_004369.3(COL6A3):c.6239G>A (p.Gly2080Asp) rs794727188
NM_004369.3(COL6A3):c.6282+1G>A rs398124128
NM_004369.3(COL6A3):c.6293G>T (p.Gly2098Val) rs794727206
NM_004369.3(COL6A3):c.6310-28_6325del44 rs1553553267
NM_004369.3(COL6A3):c.6354+1G>A rs886042883
NM_004369.3(COL6A3):c.6354+1G>T rs886042883
NM_004369.3(COL6A3):c.7024C>T (p.Arg2342Ter) rs886043113
NM_004369.3(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335
NM_004369.3(COL6A3):c.7542del (p.Phe2515fs) rs886043519
NM_004369.3(COL6A3):c.761del (p.Gly254fs) rs780921503
NM_004369.3(COL6A3):c.7796_7797del (p.Phe2599fs) rs886042623
NM_004369.3(COL6A3):c.8966-1G>C rs767517186
NM_004369.3(COL6A3):c.9193C>T (p.Gln3065Ter) rs886043992

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.