ClinVar Miner

List of variants in gene TTN reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299 0.00001
NM_001267550.2(TTN):c.60733C>T (p.Arg20245Ter) rs1057522256 0.00001
NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter) rs766840243 0.00001
NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter) rs1553539391 0.00001
NM_001267550.2(TTN):c.100446dup (p.Glu33483fs) rs878854281
NM_001267550.2(TTN):c.101494del (p.Ile33832fs) rs1559044465
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.103804C>T (p.Gln34602Ter)
NM_001267550.2(TTN):c.105422dup (p.Tyr35141Ter) rs1558995457
NM_001267550.2(TTN):c.106259del (p.Pro35420fs) rs1688559718
NM_001267550.2(TTN):c.13058del (p.Pro4353fs) rs1408345511
NM_001267550.2(TTN):c.22973C>G (p.Ser7658Ter) rs1553908254
NM_001267550.2(TTN):c.28001G>A (p.Trp9334Ter) rs1057519160
NM_001267550.2(TTN):c.30253C>T (p.Gln10085Ter) rs1057519237
NM_001267550.2(TTN):c.33229A>T (p.Lys11077Ter) rs2154270980
NM_001267550.2(TTN):c.34407del (p.Lys11470fs) rs2068001470
NM_001267550.2(TTN):c.35248del (p.Ile11750fs) rs2154264365
NM_001267550.2(TTN):c.35876-2A>G rs1577134819
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.42235C>T (p.Arg14079Ter) rs745926057
NM_001267550.2(TTN):c.44249del (p.Asn14750fs) rs2154219900
NM_001267550.2(TTN):c.46428_46429+7delinsG
NM_001267550.2(TTN):c.47794_47797del (p.Tyr15932fs) rs2057499617
NM_001267550.2(TTN):c.48499C>T (p.Arg16167Ter) rs1312425985
NM_001267550.2(TTN):c.54812-1G>A
NM_001267550.2(TTN):c.57558del (p.Val19187fs) rs1576186406
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter) rs1553649171
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter) rs543860009
NM_001267550.2(TTN):c.63382A>T (p.Lys21128Ter)
NM_001267550.2(TTN):c.65060del (p.Gly21687fs)
NM_001267550.2(TTN):c.66161-1G>C rs1553627403
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.72829_72830del (p.Leu24277fs) rs1575772888
NM_001267550.2(TTN):c.82466_82467insT (p.Trp27490fs)
NM_001267550.2(TTN):c.83439T>G (p.Tyr27813Ter) rs569816178
NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter) rs869312118
NM_001267550.2(TTN):c.86184del (p.Asn28729fs) rs1575608312
NM_001267550.2(TTN):c.91571dup (p.Ile30525fs) rs1698824634
NM_001267550.2(TTN):c.97320del (p.Asp32441fs)
NM_001267550.2(TTN):c.97707dup (p.Tyr32570fs) rs2154141555
NM_001267550.2(TTN):c.99187_99205del (p.Leu33063fs) rs1692862061

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.