ClinVar Miner

List of variants in gene COL4A1 reported by Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_001845.5(COL4A1):c.3326-7dupT rs139122216
NM_001845.6(COL4A1):c.1000-13C>G rs115358624
NM_001845.6(COL4A1):c.279+20A>T rs79359215
NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg) rs146329532
NM_001845.6(COL4A1):c.3949+10C>T rs188122235
NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser) rs878853070

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.