ClinVar Miner

List of variants in gene TTN reported by Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_001267550.2(TTN):c.18001C>T (p.Gln6001Ter) rs765081807
NM_001267550.2(TTN):c.40626dup (p.Pro13543fs) rs1553754743
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001
NM_001267550.2(TTN):c.48963_48966del (p.Ser16321fs) rs1553703310
NM_001267550.2(TTN):c.55541_55542del (p.Tyr18514fs)
NM_001267550.2(TTN):c.57300_57303dup (p.Ile19102Ter) rs1553659902
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter) rs1553636324
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter) rs1553603152
NM_001267550.2(TTN):c.84311_84312del (p.Ile28104fs) rs1553565316
NM_001267550.2(TTN):c.94371del (p.Glu31458fs) rs1553524807

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.