ClinVar Miner

List of variants in gene COL4A1 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
NM_001845.6(COL4A1):c.1108C>T (p.Pro370Ser) rs773419047
NM_001845.6(COL4A1):c.1466-6C>T rs183563055
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) rs145172612
NM_001845.6(COL4A1):c.1781C>T (p.Pro594Leu) rs1555304117
NM_001845.6(COL4A1):c.1897+7C>G rs773791331
NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu) rs145861489
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln) rs146288748
NM_001845.6(COL4A1):c.3097C>T (p.Pro1033Ser) rs373131870
NM_001845.6(COL4A1):c.3178C>T (p.Pro1060Ser) rs886044336
NM_001845.6(COL4A1):c.3358A>G (p.Lys1120Glu) rs1566349683
NM_001845.6(COL4A1):c.3591C>T (p.Ala1197=) rs768381482
NM_001845.6(COL4A1):c.4098C>T (p.Gly1366=) rs757948524
NM_001845.6(COL4A1):c.4764C>G (p.Ser1588Arg) rs779680003
NM_001845.6(COL4A1):c.495T>A (p.His165Gln)
NM_001845.6(COL4A1):c.4994G>A (p.Cys1665Tyr) rs794727751
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989

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.