ClinVar Miner

List of variants in gene TTN reported by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893 0.00006
NM_001267550.2(TTN):c.40558+1G>A rs368219776 0.00004
NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg) rs372388682 0.00004
NM_001267550.2(TTN):c.98021G>A (p.Arg32674His) rs750969198 0.00004
NM_001267550.2(TTN):c.107255G>A (p.Arg35752His) rs760107623 0.00002
NM_001267550.2(TTN):c.61825C>T (p.Arg20609Cys) rs786205389 0.00002
NM_001267550.2(TTN):c.86024C>T (p.Pro28675Leu) rs766419568 0.00002
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481 0.00001
NM_001267550.2(TTN):c.22682A>G (p.Tyr7561Cys) rs786205544 0.00001
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr) rs369108107 0.00001
NM_001267550.2(TTN):c.32471-1G>A rs371725574 0.00001
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) rs571093313 0.00001
NM_001267550.2(TTN):c.70819G>A (p.Ala23607Thr) rs786205539 0.00001
NM_001267550.2(TTN):c.74840G>A (p.Arg24947His) rs765512476 0.00001
NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter) rs1419374180 0.00001
NM_001267550.2(TTN):c.82405C>G (p.Pro27469Ala) rs769678793 0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001267550.2(TTN):c.103244G>T (p.Gly34415Val)
NM_001267550.2(TTN):c.103958G>A (p.Arg34653His) rs72629786
NM_001267550.2(TTN):c.106375-2A>G rs1553482872
NM_001267550.2(TTN):c.107387A>C (p.Glu35796Ala) rs1553478042
NM_001267550.2(TTN):c.15496+1G>T rs397517481
NM_001267550.2(TTN):c.19426+2T>A rs727505178
NM_001267550.2(TTN):c.22870G>T (p.Glu7624Ter)
NM_001267550.2(TTN):c.22982A>C (p.Asn7661Thr) rs2078278433
NM_001267550.2(TTN):c.28462+1G>T rs2076520917
NM_001267550.2(TTN):c.32470+3A>G rs786205543
NM_001267550.2(TTN):c.39985C>G (p.Pro13329Ala)
NM_001267550.2(TTN):c.40238dup (p.Tyr13414fs) rs2154244761
NM_001267550.2(TTN):c.44269C>G (p.Leu14757Val) rs786205542
NM_001267550.2(TTN):c.54613A>G (p.Lys18205Glu)
NM_001267550.2(TTN):c.57103T>G (p.Trp19035Gly)
NM_001267550.2(TTN):c.57718C>T (p.Arg19240Ter) rs2051361827
NM_001267550.2(TTN):c.61054G>A (p.Gly20352Arg)
NM_001267550.2(TTN):c.62330G>A (p.Gly20777Glu) rs786205541
NM_001267550.2(TTN):c.6292C>G (p.Arg2098Gly) rs763722868
NM_001267550.2(TTN):c.63938G>A (p.Trp21313Ter)
NM_001267550.2(TTN):c.66376T>C (p.Tyr22126His) rs1447894010
NM_001267550.2(TTN):c.70700A>C (p.Tyr23567Ser) rs1004548694
NM_001267550.2(TTN):c.718G>T (p.Val240Phe)
NM_001267550.2(TTN):c.7856G>A (p.Gly2619Asp)
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.84554G>A (p.Arg28185Gln)
NM_001267550.2(TTN):c.85853G>A (p.Gly28618Glu)
NM_001267550.2(TTN):c.88613del (p.Gly29538fs) rs786205639
NM_001267550.2(TTN):c.90223C>T (p.Gln30075Ter) rs786205538
NM_001267550.2(TTN):c.90890T>A (p.Phe30297Tyr) rs786205537
NM_001267550.2(TTN):c.92001G>A (p.Trp30667Ter)
NM_001267550.2(TTN):c.92813G>C (p.Arg30938Thr) rs786205536
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) rs869320740
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter) rs780414947
NM_001267550.2(TTN):c.95342G>A (p.Arg31781Gln) rs748984928
NM_001267550.2(TTN):c.97315C>T (p.Gln32439Ter) rs767837705
NM_001267550.2(TTN):c.99506G>A (p.Gly33169Asp)

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.