List of variants in gene COL4A3, LOC129935730 studied for Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000091.5(COL4A3):c.21C>A (p.Pro7=)	rs530353117	0.00041
NM_000091.5(COL4A3):c.25C>T (p.Pro9Ser)	rs890999119	0.00009
NM_000091.5(COL4A3):c.11G>A (p.Arg4Gln)	rs921905047	0.00007
NM_000091.5(COL4A3):c.44C>G (p.Pro15Arg)	rs1260966222	0.00001
NM_000091.5(COL4A3):c.45G>A (p.Pro15=)	rs542100614	0.00001
NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del)	rs876657397
NM_000091.5(COL4A3):c.43_54del (p.Pro15_Leu18del)	rs570469692

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.