List of variants in gene COL11A2 studied for Hearing impairment

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp)	rs141140798	0.00045
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln)	rs147927477	0.00031
NM_080680.3(COL11A2):c.3101G>A (p.Arg1034His)	rs957902805	0.00006
NM_080680.3(COL11A2):c.4202G>A (p.Arg1401Gln)	rs184399988	0.00005
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr)	rs121912952	0.00004
NM_080680.3(COL11A2):c.4481C>T (p.Pro1494Leu)	rs758796613	0.00002
NM_080680.3(COL11A2):c.74G>A (p.Gly25Asp)	rs1482152365	0.00001
NM_080680.3(COL11A2):c.2128C>T (p.Pro710Ser)	rs1583334125
NM_080680.3(COL11A2):c.4338+5G>A	rs2150522213
NM_080680.3(COL11A2):c.4540C>T (p.Arg1514Cys)	rs780071501
NM_080680.3(COL11A2):c.4847G>T (p.Arg1616Met)	rs1366292773

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.