ClinVar Miner

List of variants in gene combination LOC126806420, TTN reported as likely pathogenic for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.100018_100022dup (p.Leu33341fs)
NM_001267550.2(TTN):c.100026_100030del (p.Ser33344fs) rs727503537
NM_001267550.2(TTN):c.100105C>T (p.Gln33369Ter) rs1553503201
NM_001267550.2(TTN):c.100112del (p.Thr33371fs)
NM_001267550.2(TTN):c.100127_100151dup (p.Ile33385fs) rs1553503113
NM_001267550.2(TTN):c.100135G>T (p.Glu33379Ter) rs1691881913
NM_001267550.2(TTN):c.100161del (p.Ser33388fs)
NM_001267550.2(TTN):c.100169_100170del (p.Pro33389_Phe33390insTer)
NM_001267550.2(TTN):c.100171+1_100171+2insAAGAGTCCATTTGGAGGCAGGAAAATCGCTTCAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
NM_001267550.2(TTN):c.100172-1G>C rs2154137558
NM_001267550.2(TTN):c.100201_100205del (p.Ile33401fs)
NM_001267550.2(TTN):c.100229_100233del (p.Val33410fs)
NM_001267550.2(TTN):c.100325del (p.Val33442fs) rs1691525574
NM_001267550.2(TTN):c.100342C>T (p.Arg33448Ter)
NM_001267550.2(TTN):c.100367_100368insGA (p.Asn33456fs)
NM_001267550.2(TTN):c.100367_100368insT (p.Leu33457fs) rs2154137420
NM_001267550.2(TTN):c.100367del (p.Asn33456fs) rs2154137422
NM_001267550.2(TTN):c.100369del (p.Ile33458fs) rs2154137417
NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter) rs794727539
NM_001267550.2(TTN):c.99783dup (p.Lys33262Ter) rs1575324979
NM_001267550.2(TTN):c.99786_99790del (p.Thr33263fs) rs2154138232
NM_001267550.2(TTN):c.99797_99800dup (p.Tyr33268fs)
NM_001267550.2(TTN):c.99853_99854insGGGAAATACAAATTCCAGCTCAGCAATGTTTTTGGAACAGTTGATGCCATCCTTGATG (p.Val33285delinsGlyGluIleGlnIleProAlaGlnGlnCysPheTrpAsnSerTer)
NM_001267550.2(TTN):c.99865+1G>T
NM_001267550.2(TTN):c.99874del (p.Asp33292fs)
NM_001267550.2(TTN):c.99906_99916del (p.Leu33304fs)
NM_001267550.2(TTN):c.99935G>A (p.Trp33312Ter) rs2154138051

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.