ClinVar Miner

List of variants in gene COL6A2 reported as uncertain significance for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_001849.3(COL6A2):c.1070C>G (p.Pro357Arg) rs199929757
NM_001849.3(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001849.3(COL6A2):c.1358G>A (p.Arg453His) rs878854386
NM_001849.3(COL6A2):c.1970-7_1981dup rs754514524
NM_001849.3(COL6A2):c.2362C>A (p.Leu788Met) rs1235087612
NM_001849.3(COL6A2):c.2683A>C (p.Ser895Arg) rs141233891
NM_001849.3(COL6A2):c.2751G>T (p.Val917=) rs111341650
NM_001849.3(COL6A2):c.2761G>T (p.Val921Leu) rs398123650
NM_001849.3(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825
NM_001849.3(COL6A2):c.503G>T (p.Ser168Ile) rs376564984
NM_001849.3(COL6A2):c.902G>T (p.Gly301Val) rs1555872965
NM_001849.3(COL6A2):c.988G>A (p.Asp330Asn) rs139399166

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.