List of variants in gene COL4A4 reported as uncertain significance by Athena Diagnostics Inc

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

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val)	rs76636743	0.00021
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln)	rs373741172	0.00020
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln)	rs368404711	0.00010
NM_000092.5(COL4A4):c.2170C>T (p.Arg724Cys)	rs754398956	0.00006
NM_000092.5(COL4A4):c.2717-3C>T	rs191634780	0.00004
NM_000092.5(COL4A4):c.4693C>T (p.Arg1565Cys)	rs372161135	0.00003
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys)	rs757328549	0.00003
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=)	rs778832152	0.00001
NM_000092.5(COL4A4):c.3506-8T>G	rs761588725	0.00001
NM_000092.5(COL4A4):c.3771G>A (p.Pro1257=)	rs1384523881	0.00001
NM_000092.5(COL4A4):c.1871C>T (p.Ala624Val)	rs2150476651
NM_000092.5(COL4A4):c.1987+4A>G	rs1559562567
NM_000092.5(COL4A4):c.4550T>C (p.Phe1517Ser)	rs1575697378
NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu)	rs190148408
NM_000092.5(COL4A4):c.680G>A (p.Arg227His)	rs368248078

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.