ClinVar Miner

List of variants in gene TTN reported as likely pathogenic for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.39974-11T>G rs758597536 0.00006
NM_001267550.2(TTN):c.77185A>T (p.Lys25729Ter) rs542074139 0.00003
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter) rs745376275 0.00002
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter) rs1179247052 0.00002
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter) rs1064793560 0.00001
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter) rs1260821931 0.00001
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter) rs766265889 0.00001
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter) rs794729305 0.00001
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter) rs1483931960 0.00001
NM_001267550.2(TTN):c.56051-1G>A rs1385817640 0.00001
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter) rs797044692 0.00001
NM_001267550.2(TTN):c.67349-2A>C rs753948675 0.00001
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter) rs545954490 0.00001
NM_001267550.2(TTN):c.77145dup (p.Ser25716fs) rs1205409465 0.00001
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter) rs794729289 0.00001
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter) rs1575649368 0.00001
NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs) rs794729351 0.00001
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) rs794729365 0.00001
NM_001267550.2(TTN):c.101642C>G (p.Ser33881Ter) rs2154136345
NM_001267550.2(TTN):c.104699_104726delinsT (p.Glu34900_Ser34909delinsVal) rs1689265228
NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs) rs770878165
NM_001267550.2(TTN):c.107377+1G>C rs112188483
NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter) rs373040154
NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter) rs2056330918
NM_001267550.2(TTN):c.51649G>T (p.Glu17217Ter) rs1060500503
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter) rs1131691381
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter) rs727503602
NM_001267550.2(TTN):c.60455_60456del (p.Thr20152fs) rs2154184873
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter) rs794729278
NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs) rs1559561666
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter) rs794729280
NM_001267550.2(TTN):c.66161-1G>C rs1553627403
NM_001267550.2(TTN):c.67166_67167del (p.Tyr22389fs) rs1476017129
NM_001267550.2(TTN):c.72613del (p.Val24205fs) rs1708996209
NM_001267550.2(TTN):c.72828_72831dup (p.Thr24278fs) rs751319893
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer) rs1064796390
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter) rs794729382
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs) rs1553603036
NM_001267550.2(TTN):c.75663del (p.Lys25221fs) rs1131691542
NM_001267550.2(TTN):c.76737T>A (p.Tyr25579Ter) rs1707280155
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter) rs779874042
NM_001267550.2(TTN):c.83324dup (p.Arg27776fs) rs2154160971
NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter) rs869312119
NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter) rs1553560951
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter) rs878854428
NM_001267550.2(TTN):c.89221dup (p.Ile29741fs) rs1553543413
NM_001267550.2(TTN):c.89861G>A (p.Trp29954Ter) rs1060500457
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs) rs869312081
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs) rs727503547
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs) rs748382770

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