List of variants in gene COMP reported by Mendelics

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000095.3(COMP):c.700C>T (p.Pro234Ser)	rs557483957	0.00024
NM_000095.3(COMP):c.1315G>T (p.Asp439Tyr)	rs1601054002
NM_000095.3(COMP):c.1403G>A (p.Cys468Tyr)	rs137852651
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup)	rs193922900
NM_000095.3(COMP):c.1552G>C (p.Asp518His)	rs1359984033
NM_000095.3(COMP):c.818A>T (p.Asp273Val)	rs1601057491
NM_000095.3(COMP):c.949G>T (p.Asp317Tyr)	rs2145903160
NM_000095.3(COMP):c.950A>T (p.Asp317Val)	rs1601057057

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.