ClinVar Miner

List of variants reported as uncertain significance for Distal myopathy Markesbery-Griggs type by Phosphorus, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys) rs201857158
NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val) rs758458467
NM_001267550.2(TTN):c.11311+1780T>C rs184027783
NM_001267550.2(TTN):c.11311+2623T>C rs182640468
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) rs200165636
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438
NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe) rs772882862
NM_001267550.2(TTN):c.32371G>C (p.Val10791Leu) rs765062133
NM_001267550.2(TTN):c.51625G>A (p.Ala17209Thr) rs1292930837
NM_133379.5(TTN):c.10115-4G>A rs367648529

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.