ClinVar Miner

List of variants in gene TTN reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 251
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401 0.00010
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_001267550.2(TTN):c.40409-1G>A rs1285884266 0.00004
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter) rs886042995 0.00003
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198 0.00003
NM_001267550.2(TTN):c.55269G>C (p.Lys18423Asn) rs367799017 0.00003
NM_001267550.2(TTN):c.89197+1G>C rs1131691873 0.00003
NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter) rs757836789 0.00003
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) rs746721983 0.00002
NM_001267550.2(TTN):c.52102+1G>A rs1202062988 0.00002
NM_001267550.2(TTN):c.52406-2A>C rs753798236 0.00002
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter) rs1260821931 0.00001
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter) rs794729305 0.00001
NM_001267550.2(TTN):c.106279C>T (p.Gln35427Ter) rs1285334952 0.00001
NM_001267550.2(TTN):c.107284C>T (p.Arg35762Ter) rs1477669354 0.00001
NM_001267550.2(TTN):c.107377+5G>A rs780526209 0.00001
NM_001267550.2(TTN):c.22930C>T (p.Arg7644Ter) rs1340940049 0.00001
NM_001267550.2(TTN):c.36448+2T>C rs1426178024 0.00001
NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter) rs767120669 0.00001
NM_001267550.2(TTN):c.38876-2A>C rs1185989004 0.00001
NM_001267550.2(TTN):c.42214C>T (p.Arg14072Ter) rs794729258 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_001267550.2(TTN):c.51436+1G>A rs761807131 0.00001
NM_001267550.2(TTN):c.54418C>T (p.Arg18140Ter) rs747236787 0.00001
NM_001267550.2(TTN):c.56648-1G>A rs769912484 0.00001
NM_001267550.2(TTN):c.56806C>T (p.Arg18936Ter) rs72646828 0.00001
NM_001267550.2(TTN):c.57603C>A (p.Cys19201Ter) rs1418030810 0.00001
NM_001267550.2(TTN):c.57849del (p.Val19284fs) rs776385412 0.00001
NM_001267550.2(TTN):c.57995del (p.His19332fs) rs397517633 0.00001
NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter) rs768073446 0.00001
NM_001267550.2(TTN):c.58732+2T>C rs869312054 0.00001
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter) rs797044692 0.00001
NM_001267550.2(TTN):c.67348+1G>A rs758279518 0.00001
NM_001267550.2(TTN):c.67349-2A>C rs753948675 0.00001
NM_001267550.2(TTN):c.68527+1G>C rs766984722 0.00001
NM_001267550.2(TTN):c.77145dup (p.Ser25716fs) rs1205409465 0.00001
NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter) rs1419374180 0.00001
NM_001267550.2(TTN):c.82350T>A (p.Tyr27450Ter) rs1060503941 0.00001
NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter) rs886055237 0.00001
NM_001267550.2(TTN):c.84255C>A (p.Cys28085Ter) rs772842119 0.00001
NM_001267550.2(TTN):c.86335C>T (p.Arg28779Ter) rs1060500525 0.00001
NM_001267550.2(TTN):c.89220_89221insT (p.Ile29741fs) rs1064794472 0.00001
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) rs146572907 0.00001
NM_001256850.1(TTN):c.86916dup (p.Val28973fs) rs730880365
NM_001267550.2(TTN):c.100558_100561dup (p.Gly33521fs) rs1553501572
NM_001267550.2(TTN):c.100704C>A (p.Tyr33568Ter) rs1553501227
NM_001267550.2(TTN):c.100897C>T (p.Gln33633Ter) rs1553500574
NM_001267550.2(TTN):c.100927C>T (p.Gln33643Ter) rs1553500506
NM_001267550.2(TTN):c.101953G>T (p.Glu33985Ter) rs534613934
NM_001267550.2(TTN):c.102057del (p.Asn34020fs) rs1690605753
NM_001267550.2(TTN):c.102788del (p.Pro34263fs) rs1553493639
NM_001267550.2(TTN):c.102958del (p.Ile34320fs)
NM_001267550.2(TTN):c.104653C>T (p.Arg34885Ter) rs1057518003
NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs) rs770878165
NM_001267550.2(TTN):c.105485G>A (p.Trp35162Ter) rs886042795
NM_001267550.2(TTN):c.106546G>T (p.Glu35516Ter)
NM_001267550.2(TTN):c.107641G>T (p.Glu35881Ter)
NM_001267550.2(TTN):c.107681-4_107710del rs1553476928
NM_001267550.2(TTN):c.107840T>G (p.Ile35947Ser) rs281864928
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro) rs267607156
NM_001267550.2(TTN):c.11781del (p.Lys3927fs)
NM_001267550.2(TTN):c.12742C>T (p.Gln4248Ter) rs794729308
NM_001267550.2(TTN):c.12870dup (p.Val4291fs) rs869025556
NM_001267550.2(TTN):c.13117C>T (p.Gln4373Ter) rs1064793411
NM_001267550.2(TTN):c.13966C>T (p.Gln4656Ter) rs747289468
NM_001267550.2(TTN):c.15775+1G>A rs1353528319
NM_001267550.2(TTN):c.1758_1763delinsT (p.Glu586fs) rs794729311
NM_001267550.2(TTN):c.22571_22572del (p.Ile7524fs) rs1553909995
NM_001267550.2(TTN):c.22745_22746del (p.Ser7582fs) rs779549899
NM_001267550.2(TTN):c.28513G>T (p.Glu9505Ter)
NM_001267550.2(TTN):c.31846+1G>A rs794727043
NM_001267550.2(TTN):c.34251_34276delinsG (p.Leu11418fs) rs2154268608
NM_001267550.2(TTN):c.35875+2T>C
NM_001267550.2(TTN):c.36087_36090del (p.Ser12030fs) rs2154260181
NM_001267550.2(TTN):c.36365-1G>A rs577672565
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.40608del (p.Lys13536fs) rs1284446305
NM_001267550.2(TTN):c.40634-1G>T rs749062863
NM_001267550.2(TTN):c.41793C>A (p.Tyr13931Ter) rs794729380
NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter) rs2060187635
NM_001267550.2(TTN):c.42235C>T (p.Arg14079Ter) rs745926057
NM_001267550.2(TTN):c.42946+1G>T rs1553741531
NM_001267550.2(TTN):c.43370del (p.Lys14457fs) rs1553739413
NM_001267550.2(TTN):c.43576C>T (p.Arg14526Ter) rs2154220622
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.44338del (p.Thr14780fs)
NM_001267550.2(TTN):c.44465_44466del (p.Leu14822fs) rs1576608220
NM_001267550.2(TTN):c.44663del (p.Asn14888fs) rs1057518065
NM_001267550.2(TTN):c.45674_45675del (p.Val15225fs) rs1232518763
NM_001267550.2(TTN):c.45852_45853del (p.His15284fs) rs1266824761
NM_001267550.2(TTN):c.46878del (p.Ala15627fs) rs1576520630
NM_001267550.2(TTN):c.47137_47138del (p.Ser15713fs) rs886039125
NM_001267550.2(TTN):c.47268T>A (p.Tyr15756Ter)
NM_001267550.2(TTN):c.47314C>T (p.Arg15772Ter) rs2154209202
NM_001267550.2(TTN):c.48167del (p.Pro16056fs) rs1443466576
NM_001267550.2(TTN):c.48228G>A (p.Trp16076Ter)
NM_001267550.2(TTN):c.49700C>G (p.Ser16567Ter) rs1553699802
NM_001267550.2(TTN):c.49949-2A>T
NM_001267550.2(TTN):c.50069del (p.Lys16690fs) rs1064796139
NM_001267550.2(TTN):c.50134_50137dup (p.Thr16713fs) rs794729321
NM_001267550.2(TTN):c.50537_50547del (p.Ile16846fs) rs1576423296
NM_001267550.2(TTN):c.50552-2A>G rs794729266
NM_001267550.2(TTN):c.50619G>A (p.Trp16873Ter) rs1553696411
NM_001267550.2(TTN):c.51427del (p.Asp17143fs)
NM_001267550.2(TTN):c.51624_51654dup (p.Gln17219delinsSerLysArgThrTer) rs1553692107
NM_001267550.2(TTN):c.51739+1G>C rs727504799
NM_001267550.2(TTN):c.51916_51922del (p.Gly17306fs) rs1553691187
NM_001267550.2(TTN):c.51958C>T (p.Gln17320Ter) rs2055753321
NM_001267550.2(TTN):c.53881+5G>T rs753527304
NM_001267550.2(TTN):c.53901dup (p.Arg17968fs) rs2154195456
NM_001267550.2(TTN):c.54067C>T (p.Arg18023Ter) rs1553682168
NM_001267550.2(TTN):c.54190+1G>A rs756339648
NM_001267550.2(TTN):c.54738del (p.Met18247fs) rs1160449898
NM_001267550.2(TTN):c.54809dup (p.Phe18271fs) rs1553679072
NM_001267550.2(TTN):c.55173dup (p.Ala18392fs) rs2154193411
NM_001267550.2(TTN):c.55636G>T (p.Glu18546Ter)
NM_001267550.2(TTN):c.56318del (p.Ala18773fs)
NM_001267550.2(TTN):c.56495G>A (p.Trp18832Ter) rs1576247054
NM_001267550.2(TTN):c.56759G>A (p.Trp18920Ter) rs2154190939
NM_001267550.2(TTN):c.57854del (p.Pro19285fs)
NM_001267550.2(TTN):c.58620del (p.Val19541fs) rs1576147786
NM_001267550.2(TTN):c.58797del (p.Trp19600fs)
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs) rs752948913
NM_001267550.2(TTN):c.60284_60285del (p.Thr20095fs) rs1553644362
NM_001267550.2(TTN):c.60375C>A (p.Tyr20125Ter) rs1064796977
NM_001267550.2(TTN):c.60902del (p.Ser20301fs) rs1553643140
NM_001267550.2(TTN):c.61479_61483del (p.Ile20494fs) rs1131691981
NM_001267550.2(TTN):c.62597del (p.Gly20866fs) rs1576066084
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter) rs543860009
NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter) rs368452607
NM_001267550.2(TTN):c.63229_63230del (p.Thr21077fs) rs1553638608
NM_001267550.2(TTN):c.64397-2del
NM_001267550.2(TTN):c.64742G>A (p.Trp21581Ter) rs1057523344
NM_001267550.2(TTN):c.64972+1G>T rs1057518009
NM_001267550.2(TTN):c.658C>T (p.Arg220Ter) rs748313513
NM_001267550.2(TTN):c.66161-1G>C rs1553627403
NM_001267550.2(TTN):c.66228G>A (p.Trp22076Ter) rs1131692031
NM_001267550.2(TTN):c.66767T>G (p.Leu22256Ter) rs1064794716
NM_001267550.2(TTN):c.66769+1G>A rs1057521946
NM_001267550.2(TTN):c.66804_66807del (p.Lys22269fs) rs1064796186
NM_001267550.2(TTN):c.67272C>A (p.Tyr22424Ter) rs747377194
NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter) rs1213930919
NM_001267550.2(TTN):c.68995del (p.Thr22999fs) rs1064796389
NM_001267550.2(TTN):c.69104dup (p.Thr23036fs) rs1559469421
NM_001267550.2(TTN):c.69256_69257dup (p.Leu23086fs) rs1553616622
NM_001267550.2(TTN):c.69367G>T (p.Gly23123Ter) rs1553616431
NM_001267550.2(TTN):c.70763T>G (p.Leu23588Ter) rs1553612999
NM_001267550.2(TTN):c.71298dup (p.Arg23767fs) rs1553611773
NM_001267550.2(TTN):c.71685_71686insAAATA (p.Ala23896delinsLysTer) rs1709360511
NM_001267550.2(TTN):c.72008del (p.Asn24003fs) rs1559433601
NM_001267550.2(TTN):c.72935_72939del (p.Ser24312fs) rs2154170669
NM_001267550.2(TTN):c.73750C>T (p.Gln24584Ter)
NM_001267550.2(TTN):c.74037_74040del (p.Leu24679fs) rs1575756800
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer) rs1064796390
NM_001267550.2(TTN):c.74403del (p.Asn24802fs)
NM_001267550.2(TTN):c.74829T>G (p.Tyr24943Ter) rs1553604563
NM_001267550.2(TTN):c.74987_74991dup (p.Ser24998fs) rs1553604316
NM_001267550.2(TTN):c.75081G>A (p.Trp25027Ter) rs1064794930
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs) rs794729340
NM_001267550.2(TTN):c.7516C>T (p.Arg2506Ter) rs780415493
NM_001267550.2(TTN):c.75469C>T (p.Arg25157Ter) rs1553603394
NM_001267550.2(TTN):c.75492del (p.Phe25165fs) rs1057517937
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs) rs1553603036
NM_001267550.2(TTN):c.75665dup (p.Cys25222fs) rs1553602978
NM_001267550.2(TTN):c.76631G>A (p.Trp25544Ter) rs794729383
NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter) rs767450912
NM_001267550.2(TTN):c.76737T>A (p.Tyr25579Ter) rs1707280155
NM_001267550.2(TTN):c.76865G>A (p.Trp25622Ter) rs756552975
NM_001267550.2(TTN):c.7694G>A (p.Trp2565Ter)
NM_001267550.2(TTN):c.77062del (p.Gln25688fs) rs1575716932
NM_001267550.2(TTN):c.77212C>T (p.Gln25738Ter) rs1057523502
NM_001267550.2(TTN):c.77933_77951del (p.Glu25978fs) rs1553597801
NM_001267550.2(TTN):c.78225del (p.Ala26076fs) rs1553596392
NM_001267550.2(TTN):c.78326G>A (p.Trp26109Ter) rs1559364892
NM_001267550.2(TTN):c.78697G>T (p.Glu26233Ter) rs267599036
NM_001267550.2(TTN):c.78977del (p.Lys26326fs) rs1553592771
NM_001267550.2(TTN):c.79141A>T (p.Lys26381Ter) rs1131691944
NM_001267550.2(TTN):c.79145dup (p.Asn26382fs) rs886041453
NM_001267550.2(TTN):c.79162G>T (p.Gly26388Ter) rs763822931
NM_001267550.2(TTN):c.79278del (p.Asp26427fs) rs1064796574
NM_001267550.2(TTN):c.79639C>T (p.Arg26547Ter)
NM_001267550.2(TTN):c.79969del (p.Asp26657fs) rs1575680127
NM_001267550.2(TTN):c.80044_80047dup (p.Thr26683fs) rs1553586069
NM_001267550.2(TTN):c.80146A>T (p.Lys26716Ter) rs902372912
NM_001267550.2(TTN):c.80452G>T (p.Glu26818Ter) rs1553583434
NM_001267550.2(TTN):c.80494G>T (p.Glu26832Ter) rs780512337
NM_001267550.2(TTN):c.80850C>G (p.Tyr26950Ter) rs794729291
NM_001267550.2(TTN):c.81650G>A (p.Trp27217Ter) rs1559330805
NM_001267550.2(TTN):c.81758del (p.Asn27253fs) rs2154162603
NM_001267550.2(TTN):c.82193del (p.Gly27398fs) rs1064795346
NM_001267550.2(TTN):c.82548G>A (p.Trp27516Ter) rs1559321340
NM_001267550.2(TTN):c.82594dup (p.Thr27532fs) rs1064795407
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter) rs779874042
NM_001267550.2(TTN):c.826C>T (p.Gln276Ter) rs2154358498
NM_001267550.2(TTN):c.8286C>G (p.Tyr2762Ter) rs1574570125
NM_001267550.2(TTN):c.82895_82896del (p.Thr27632fs) rs796267411
NM_001267550.2(TTN):c.83384del (p.Gly27795fs) rs1704151765
NM_001267550.2(TTN):c.83653G>T (p.Glu27885Ter) rs794729295
NM_001267550.2(TTN):c.84056C>A (p.Ser28019Ter) rs769665204
NM_001267550.2(TTN):c.84059del (p.Leu28020fs) rs794729352
NM_001267550.2(TTN):c.84482del (p.Pro28161fs) rs1060500556
NM_001267550.2(TTN):c.84586_84589del (p.Arg28196fs) rs1703664543
NM_001267550.2(TTN):c.84630del (p.Asp28211fs) rs1575623612
NM_001267550.2(TTN):c.84897G>A (p.Trp28299Ter) rs794729296
NM_001267550.2(TTN):c.85008_85011del (p.Glu28338fs) rs869312100
NM_001267550.2(TTN):c.85150C>T (p.Arg28384Ter) rs1703437679
NM_001267550.2(TTN):c.85514T>G (p.Leu28505Ter) rs1057520803
NM_001267550.2(TTN):c.85768C>T (p.Arg28590Ter) rs748689777
NM_001267550.2(TTN):c.86627del (p.Pro28876fs) rs1064794754
NM_001267550.2(TTN):c.86889del (p.Trp28963fs) rs1559268818
NM_001267550.2(TTN):c.87046_87049del (p.Phe29016fs) rs1575592653
NM_001267550.2(TTN):c.87247del (p.Val29083fs) rs1553555919
NM_001267550.2(TTN):c.87288del (p.Ala29097fs)
NM_001267550.2(TTN):c.87554G>A (p.Trp29185Ter) rs1057518275
NM_001267550.2(TTN):c.87716del (p.Gly29239fs) rs869312028
NM_001267550.2(TTN):c.87848del (p.Leu29283fs) rs794729359
NM_001267550.2(TTN):c.88204C>T (p.Gln29402Ter) rs1701741963
NM_001267550.2(TTN):c.88558_88559del (p.Gly29520fs) rs1575551371
NM_001267550.2(TTN):c.88594+2T>G rs1057520744
NM_001267550.2(TTN):c.88696del (p.Ile29566fs) rs1064796323
NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter) rs766450773
NM_001267550.2(TTN):c.89084dup (p.Thr29696fs) rs1553544064
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs) rs869312081
NM_001267550.2(TTN):c.89920_89921del (p.Asp29974fs) rs1553540975
NM_001267550.2(TTN):c.89993C>A (p.Ser29998Ter) rs376543931
NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter) rs1553539995
NM_001267550.2(TTN):c.90587del (p.Lys30196fs) rs397517749
NM_001267550.2(TTN):c.90653_90654del (p.Thr30218fs) rs794729363
NM_001267550.2(TTN):c.91035G>A (p.Trp30345Ter) rs1559200525
NM_001267550.2(TTN):c.91097_91100del (p.Arg30366fs) rs769422187
NM_001267550.2(TTN):c.91271-1G>A rs1057522831
NM_001267550.2(TTN):c.9220C>T (p.Arg3074Ter) rs780706937
NM_001267550.2(TTN):c.92762_92765del (p.Thr30921fs) rs2154147735
NM_001267550.2(TTN):c.92812dup (p.Arg30938fs) rs1559173391
NM_001267550.2(TTN):c.93781C>T (p.Arg31261Ter) rs1553528016
NM_001267550.2(TTN):c.94729G>T (p.Gly31577Ter) rs1559151333
NM_001267550.2(TTN):c.94816C>T (p.Arg31606Ter) rs1060500435
NM_001267550.2(TTN):c.95032T>G (p.Cys31678Gly) rs2555818
NM_001267550.2(TTN):c.95164C>T (p.Gln31722Ter) rs2154145603
NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp) rs869320744
NM_001267550.2(TTN):c.95415_95416+2del rs769407533
NM_001267550.2(TTN):c.95469dup (p.Ile31824fs) rs1553520581
NM_001267550.2(TTN):c.95549del (p.Lys31850fs) rs1064795399
NM_001267550.2(TTN):c.9654C>G (p.Tyr3218Ter) rs1553987591
NM_001267550.2(TTN):c.97114dup (p.Arg32372fs) rs1064793419
NM_001267550.2(TTN):c.97950dup (p.Asn32651Ter) rs2154140546
NM_001267550.2(TTN):c.98171_98174dup (p.Ile32726fs) rs1275153634
NM_001267550.2(TTN):c.99034A>T (p.Lys33012Ter) rs771511344
NM_001267550.2(TTN):c.99063del (p.Lys33021fs) rs1445687820
NM_001267550.2(TTN):c.99496G>T (p.Glu33166Ter) rs886038825
NM_001267550.2(TTN):c.99502G>T (p.Glu33168Ter) rs1064794982

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