ClinVar Miner

List of variants in gene TTN studied for Primary familial hypertrophic cardiomyopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828 0.00113
NM_001267550.2(TTN):c.2775+4G>A rs548681281 0.00086
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00049
NM_001267550.2(TTN):c.57770G>A (p.Arg19257Gln) rs202076328 0.00033
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654 0.00026
NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys) rs199620003 0.00014
NM_001267550.2(TTN):c.46222G>A (p.Ala15408Thr) rs730880239 0.00010
NM_001267550.2(TTN):c.9955G>A (p.Val3319Ile) rs375533809 0.00009
NM_133379.5(TTN):c.13939del (p.Glu4647fs) rs781363456 0.00006
NM_001267550.2(TTN):c.64072G>A (p.Val21358Met) rs371725212 0.00002
NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu) rs587780983 0.00002
NM_001267550.2(TTN):c.2227G>A (p.Ala743Thr) rs370728359 0.00001
NM_001267550.2(TTN):c.57367A>G (p.Thr19123Ala) rs587782985 0.00001
NM_001267550.2(TTN):c.12027T>G (p.Tyr4009Ter) rs587782984
NM_001267550.2(TTN):c.15500C>A (p.Pro5167His) rs730880237
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.53519A>G (p.Lys17840Arg) rs730880240
NM_133379.5(TTN):c.16515_16516insA (p.Glu5506fs) rs730880247

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.