List of variants in gene COL5A2 reported as likely pathogenic for not provided

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000393.5(COL5A2):c.322+1G>C	rs770598613	0.00014
NM_000393.5(COL5A2):c.3373G>A (p.Gly1125Arg)	rs151187317	0.00005
NM_000393.5(COL5A2):c.2104G>A (p.Gly702Arg)	rs772811492	0.00001
NM_000393.5(COL5A2):c.2968G>A (p.Gly990Arg)	rs1040238147	0.00001
NM_000393.5(COL5A2):c.1114G>T (p.Gly372Trp)
NM_000393.5(COL5A2):c.1401G>A (p.Pro467=)	rs1553515794
NM_000393.5(COL5A2):c.1834G>A (p.Gly612Arg)	rs1428026630
NM_000393.5(COL5A2):c.2104G>C (p.Gly702Arg)	rs772811492
NM_000393.5(COL5A2):c.2391+5G>A	rs1553514799
NM_000393.5(COL5A2):c.2950G>C (p.Gly984Arg)	rs1576493931
NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser)	rs747946828
NM_000393.5(COL5A2):c.3544G>T (p.Gly1182Cys)	rs1057524163
NM_000393.5(COL5A2):c.682G>A (p.Gly228Arg)	rs2105652981

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.