ClinVar Miner

List of variants in gene TTN reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_001256850.1(TTN):c.21794_21795delCT (p.Ser7265Trpfs) rs779549899
NM_001256850.1(TTN):c.35228_35245del18 (p.Ile11743_Glu11748del) rs139512154
NM_001256850.1(TTN):c.39349C>T (p.Arg13117Ter) rs140743001
NM_001256850.1(TTN):c.39561_39563delAGA (p.Glu13187del) rs727505315
NM_001256850.1(TTN):c.48730G>T (p.Glu16244Ter) rs727503607
NM_001256850.1(TTN):c.77734G>T (p.Gly25912Ter) rs869178171
NM_001256850.1(TTN):c.92569+1G>C rs727505319
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter) rs752697861
NM_001267550.2(TTN):c.30683-2del1 rs1553868981
NM_001267550.2(TTN):c.40621A>T (p.Lys13541Ter) rs869238992
NM_001267550.2(TTN):c.51581G>A (p.Trp17194Ter) rs1553692290
NM_001267550.2(TTN):c.53984delT (p.Met17995Serfs) rs1553682326
NM_001267550.2(TTN):c.66770-2A>C rs1553624468
NM_001267550.2(TTN):c.68923_68924insT (p.Pro22975Leufs) rs1553617407
NM_001267550.2(TTN):c.69880delA (p.Thr23294Profs) rs1553614987
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.72347delA (p.Asn24116Metfs) rs1553609675
NM_001267550.2(TTN):c.72826_72826delA (p.Thr24276Leufs) rs971618751
NM_001267550.2(TTN):c.76179_76180insAACTTAGTGAACCAAGCCCTCCT (p.Ser25394Asnfs) rs878854335
NM_001267550.2(TTN):c.76904_76905insA (p.Asn25635Lysfs) rs1553601017
NM_001267550.2(TTN):c.78947_78948insG (p.Ser26317Glnfs) rs1553592841
NM_001267550.2(TTN):c.80692_80697delAAAATA (p.Lys26898_Ile26899del) rs1385301438
NM_001267550.2(TTN):c.86076dup (p.Ser28693Ilefs) rs1285329277
NM_001267550.2(TTN):c.90706G>T (p.Glu30236Ter) rs974510652
NM_133379.3(TTN):c.15285_15317dup (p.Glu5112_Ala5113insThrLeuGluArgTyrSerThrProProGlyGlu) rs397517815

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.