ClinVar Miner

List of variants in gene TTN reported as likely pathogenic by NeuroMeGen,Hospital Clinico Santiago de Compostela

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_001267550.2(TTN):c.106531+1G>A rs760915007
NM_001267550.2(TTN):c.22480T>C (p.Ser7494Pro) rs1560689563
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter) rs397517547
NM_001267550.2(TTN):c.38656_38660GAAAA[1] (p.Lys12887fs) rs1553775212
NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter) rs767120669
NM_001267550.2(TTN):c.87015_87016GA[2] (p.Glu29007fs) rs1559267059
NM_001267550.2(TTN):c.91615_91616dup (p.Gly30541fs) rs1559187287

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.