ClinVar Miner

List of variants in gene TTN reported as likely pathogenic for autosomal dominant distal myopathy

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
GRCh37/hg19 2q31.2(chr2:179403525-179655493)
NM_001267550.1(TTN):c.32471-1G>A rs371725574
NM_001267550.2(TTN):c.104092_104103delinsGAAGCTTT (p.Arg34698fs)
NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr) rs281864928
NM_001267550.2(TTN):c.2224del (p.Ser742fs)
NM_001267550.2(TTN):c.22480T>C (p.Ser7494Pro) rs1560689563
NM_001267550.2(TTN):c.58368dup (p.Tyr19457fs)
NM_001267550.2(TTN):c.79599_79621del (p.Glu26533fs)
NM_001267550.2(TTN):c.826C>T (p.Gln276Ter)
NM_001267550.2(TTN):c.89221dup (p.Ile29741fs) rs1553543413
NM_001267550.2(TTN):c.91615_91616dup (p.Gly30541fs) rs1559187287
NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro) rs587780495

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.