ClinVar Miner

List of variants reported as pathogenic for Alport syndrome 1, X-linked recessive by Center of Genomic medicine, Geneva,University Hospital of Geneva

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP
NM_000495.5(COL4A5):c.2288G>A (p.Gly763Glu)	rs281874689
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)	rs104886189
NM_033380.3(COL4A5):c.4315+1G>A	rs587776403

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.