List of variants in gene COL4A5 studied for Nephrotic syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_033380.3(COL4A5):c.2344_2345insG (p.Pro782fs)	rs2066736944
NM_033380.3(COL4A5):c.2387G>A (p.Gly796Glu)	rs1569495819
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser)	rs104886210
NM_033380.3(COL4A5):c.3262C>T (p.Pro1088Ser)	rs2067818149
NM_033380.3(COL4A5):c.3722G>A (p.Gly1241Asp)	rs281874721
NM_033380.3(COL4A5):c.4529-11A>G	rs2068656107

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.