List of variants in gene combination COL6A2, FTCD reported as likely benign for Myosclerosis

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.*61G>A	rs1043801	0.05523
NM_001849.4(COL6A2):c.2592G>A (p.Thr864=)	rs1042930	0.01149
NM_006657.3(FTCD):c.*15C>A	rs114980528	0.00458
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=)	rs11554669
NM_006657.3(FTCD):c.*127C>A	rs538433909
NM_006657.3(FTCD):c.*67C>T	rs139773262
NM_206965.2(FTCD):c.1540-17_1540-16del	rs747091513

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.