ClinVar Miner

List of variants in gene LOC101927055, TTN studied for Distal myopathy Markesbery-Griggs type

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_001267550.2(TTN):c.3759A>G (p.Arg1253=) rs2291308
NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu) rs1552280
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=) rs55757622
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856
NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly) rs370978752
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val) rs16866531
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875
NM_001267550.2(TTN):c.4319G>T (p.Gly1440Val) rs150579194
NM_001267550.2(TTN):c.4322G>A (p.Arg1441His) rs72647876
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=) rs719202
NM_001267550.2(TTN):c.4480+6C>T rs719201
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877
NM_001267550.2(TTN):c.4668G>A (p.Pro1556=) rs145709534
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln) rs12476289
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147

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.