ClinVar Miner

List of variants in gene TTN reported as likely pathogenic for Primary dilated cardiomyopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 275
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.29042-2A>C rs6716782 0.00060
NM_001267550.2(TTN):c.31763-1G>A rs202234172 0.00048
NM_001267550.2(TTN):c.50858-3C>T rs587782987 0.00011
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_001267550.2(TTN):c.1800+1G>A rs397517497 0.00005
NM_001267550.2(TTN):c.86821+2T>A rs397517735 0.00005
NM_001267550.2(TTN):c.88421G>A (p.Trp29474Ter) rs869025546 0.00003
NM_001267550.2(TTN):c.107377+1G>A rs112188483 0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_001256850.1(TTN):c.51809dup (p.Asp17270fs) rs397517626 0.00001
NM_001267550.2(TTN):c.104947C>T (p.Gln34983Ter) rs991187915 0.00001
NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter) rs727504499 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_001267550.2(TTN):c.48527G>A (p.Trp16176Ter) rs869312048 0.00001
NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter) rs794729265 0.00001
NM_001267550.2(TTN):c.52021C>T (p.Arg17341Ter) rs926741242 0.00001
NM_001267550.2(TTN):c.57995del (p.His19332fs) rs397517633 0.00001
NM_001267550.2(TTN):c.58732+2T>C rs869312054 0.00001
NM_001267550.2(TTN):c.72669del (p.Asp24224fs) rs727504531 0.00001
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter) rs1575649368 0.00001
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577 0.00001
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter) rs869312121 0.00001
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter) rs869312085 0.00001
NM_003319.4(TTN):c.16349dup (p.Phe5451fs) rs752856716 0.00001
NM_001256850.1(TTN):c.86916dup (p.Val28973fs) rs730880365
NM_001267550.2(TTN):c.100445C>A (p.Ser33482Ter) rs869312086
NM_001267550.2(TTN):c.100555_100571del (p.Val33519fs)
NM_001267550.2(TTN):c.101021_101022del (p.Arg33674fs) rs869312087
NM_001267550.2(TTN):c.101098_101099insT (p.Asp33700fs) rs869312122
NM_001267550.2(TTN):c.101208G>A (p.Trp33736Ter) rs1559047711
NM_001267550.2(TTN):c.10120A>T (p.Lys3374Ter) rs770029258
NM_001267550.2(TTN):c.101789del (p.Leu33930fs) rs1575285509
NM_001267550.2(TTN):c.101996G>A (p.Trp33999Ter) rs869312068
NM_001267550.2(TTN):c.10241_10247del (p.Tyr3414fs) rs876657663
NM_001267550.2(TTN):c.102946del (p.Tyr34316fs)
NM_001267550.2(TTN):c.102949C>T (p.Gln34317Ter) rs397517787
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.103374C>G (p.Tyr34458Ter) rs1060500505
NM_001267550.2(TTN):c.103599_103602del (p.Arg34534fs) rs730880246
NM_001267550.2(TTN):c.104010C>A (p.Tyr34670Ter) rs751039219
NM_001267550.2(TTN):c.104457C>A (p.Tyr34819Ter)
NM_001267550.2(TTN):c.106629del (p.Ala35544fs) rs869312069
NM_001267550.2(TTN):c.11444del (p.Lys3815fs) rs1574099951
NM_001267550.2(TTN):c.11912G>A (p.Trp3971Ter) rs869312102
NM_001267550.2(TTN):c.12057dup (p.Ser4020fs)
NM_001267550.2(TTN):c.12208G>T (p.Glu4070Ter) rs397517830
NM_001267550.2(TTN):c.12405del (p.Asn4135fs) rs727503658
NM_001267550.2(TTN):c.12643_12644del (p.Gln4215fs) rs869312038
NM_001267550.2(TTN):c.12645del (p.Gln4215fs)
NM_001267550.2(TTN):c.12757C>T (p.Gln4253Ter) rs869312039
NM_001267550.2(TTN):c.12870dup (p.Val4291fs) rs869025556
NM_001267550.2(TTN):c.13058del (p.Pro4353fs) rs1408345511
NM_001267550.2(TTN):c.13115del (p.Val4372fs) rs2154317965
NM_001267550.2(TTN):c.13732G>T (p.Glu4578Ter)
NM_001267550.2(TTN):c.13760del (p.Glu4587fs) rs1266489077
NM_001267550.2(TTN):c.13900G>T (p.Glu4634Ter) rs869312103
NM_001267550.2(TTN):c.14056del (p.Thr4686fs) rs869312104
NM_001267550.2(TTN):c.14334T>G (p.Tyr4778Ter)
NM_001267550.2(TTN):c.24385G>T (p.Glu8129Ter) rs727504843
NM_001267550.2(TTN):c.29062del (p.Ala9688fs) rs869312040
NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg) rs267607155
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter) rs397517547
NM_001267550.2(TTN):c.30484_30493del (p.Thr10162fs) rs727504452
NM_001267550.2(TTN):c.32888-1del rs869312041
NM_001267550.2(TTN):c.40608del (p.Lys13536fs) rs1284446305
NM_001267550.2(TTN):c.41447del (p.Gly13816fs) rs869312042
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter) rs869312043
NM_001267550.2(TTN):c.41483del (p.Pro13828fs) rs876657664
NM_001267550.2(TTN):c.41609-2A>C rs730880244
NM_001267550.2(TTN):c.41610del (p.Val13871fs) rs397517565
NM_001267550.2(TTN):c.41835T>G (p.Tyr13945Ter) rs869312105
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs) rs1553742630
NM_001267550.2(TTN):c.42636del (p.Ala14213fs) rs869312106
NM_001267550.2(TTN):c.42968dup (p.Pro14324fs) rs1553741321
NM_001267550.2(TTN):c.43604_43607dup (p.His14537fs) rs1576685753
NM_001267550.2(TTN):c.43792del (p.Gly14597_Val14598insTer) rs869312044
NM_001267550.2(TTN):c.43943T>A (p.Leu14648Ter)
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter) rs770767998
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs) rs397517576
NM_001267550.2(TTN):c.45756dup (p.Tyr15253fs) rs869312045
NM_001267550.2(TTN):c.45812T>G (p.Leu15271Ter) rs869312046
NM_001267550.2(TTN):c.45895+1G>A rs727504589
NM_001267550.2(TTN):c.45896-2A>G rs869025548
NM_001267550.2(TTN):c.46069_46070del (p.Met15357fs) rs397517584
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter) rs368200299
NM_001267550.2(TTN):c.46603C>T (p.Arg15535Ter) rs764654357
NM_001267550.2(TTN):c.46630del (p.Arg15544fs)
NM_001267550.2(TTN):c.46759del (p.Met15587fs)
NM_001267550.2(TTN):c.46773T>A (p.Tyr15591Ter) rs397517586
NM_001267550.2(TTN):c.46782C>A (p.Tyr15594Ter) rs397517587
NM_001267550.2(TTN):c.47142_47143dup (p.Glu15715fs) rs869312107
NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter) rs397517589
NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter) rs775186117
NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter) rs373040154
NM_001267550.2(TTN):c.47784del (p.Asn15928fs)
NM_001267550.2(TTN):c.47875+1G>A rs869312047
NM_001267550.2(TTN):c.49346-1G>A rs869312070
NM_001267550.2(TTN):c.49458G>A (p.Trp16486Ter) rs869312108
NM_001267550.2(TTN):c.49813del (p.Val16605fs) rs730880245
NM_001267550.2(TTN):c.50247del (p.Phe16749fs) rs869312071
NM_001267550.2(TTN):c.50467_50468del (p.Gln16823fs)
NM_001267550.2(TTN):c.50533del (p.Ser16845fs)
NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter) rs397517601
NM_001267550.2(TTN):c.51129dup (p.Val17044fs)
NM_001267550.2(TTN):c.51302del (p.Glu17101fs)
NM_001267550.2(TTN):c.51739+1G>C rs727504799
NM_001267550.2(TTN):c.51870del (p.Glu17291fs) rs1553691320
NM_001267550.2(TTN):c.52035_52036insTT (p.Leu17346fs) rs869312049
NM_001267550.2(TTN):c.52223_52227dup (p.Asp17410fs) rs869312050
NM_001267550.2(TTN):c.52226_52229del (p.Lys17409fs) rs727503615
NM_001267550.2(TTN):c.52334_52335del (p.Val17445fs) rs2055522786
NM_001267550.2(TTN):c.53488G>T (p.Gly17830Ter) rs759231562
NM_001267550.2(TTN):c.53606del (p.Leu17869fs)
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) rs727503607
NM_001267550.2(TTN):c.5383A>T (p.Lys1795Ter) rs1574659116
NM_001267550.2(TTN):c.53881+1G>T rs869312051
NM_001267550.2(TTN):c.54327del (p.Lys18110fs) rs2054381012
NM_001267550.2(TTN):c.54636T>G (p.Tyr18212Ter) rs397517620
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter) rs727503602
NM_001267550.2(TTN):c.54990dup (p.Thr18331fs) rs869025552
NM_001267550.2(TTN):c.55303-1G>A rs748369265
NM_001267550.2(TTN):c.55525_55531del (p.Asp18509fs) rs869312052
NM_001267550.2(TTN):c.55800G>A (p.Trp18600Ter) rs727503598
NM_001267550.2(TTN):c.56145dup (p.Leu18716fs)
NM_001267550.2(TTN):c.56206del (p.Thr18736fs) rs869312109
NM_001267550.2(TTN):c.56647+1G>A rs397517624
NM_001267550.2(TTN):c.56834del (p.Gly18945fs) rs869312110
NM_001267550.2(TTN):c.56892dup (p.Ala18965fs)
NM_001267550.2(TTN):c.57215del (p.Gly19072fs) rs397517628
NM_001267550.2(TTN):c.57297del (p.Asp19100fs)
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.58172del (p.Asp19391fs) rs869312072
NM_001267550.2(TTN):c.59186_59188delinsCTTCT (p.Arg19729fs)
NM_001267550.2(TTN):c.59205del (p.Glu19735fs) rs397517643
NM_001267550.2(TTN):c.60399del (p.Ser20134fs) rs727504466
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter) rs869312055
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter) rs869312112
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter) rs727503586
NM_001267550.2(TTN):c.62581_62584dup (p.Leu20862fs)
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs) rs876657666
NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter) rs368452607
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.64094-2A>G rs876657667
NM_001267550.2(TTN):c.64259dup (p.Val21421fs)
NM_001267550.2(TTN):c.64318A>T (p.Arg21440Ter) rs1576014673
NM_001267550.2(TTN):c.64397-1G>C rs876657668
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter) rs768345594
NM_001267550.2(TTN):c.65476G>T (p.Glu21826Ter) rs763824247
NM_001267550.2(TTN):c.65576-2A>G rs869025549
NM_001267550.2(TTN):c.65819dup (p.Asn21940fs)
NM_001267550.2(TTN):c.66753T>G (p.Tyr22251Ter) rs2047743679
NM_001267550.2(TTN):c.6678_6681del (p.Lys2227fs) rs397517698
NM_001267550.2(TTN):c.67157_67161dup (p.Asn22388delinsSerTer)
NM_001267550.2(TTN):c.67302T>G (p.Tyr22434Ter)
NM_001267550.2(TTN):c.68437G>T (p.Glu22813Ter) rs200797552
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) rs371678190
NM_001267550.2(TTN):c.68737G>T (p.Glu22913Ter)
NM_001267550.2(TTN):c.69412+1G>A rs869312074
NM_001267550.2(TTN):c.69458_69461dup (p.Asn23154fs) rs397517679
NM_001267550.2(TTN):c.69491_69492del (p.Val23164fs) rs869312113
NM_001267550.2(TTN):c.70791del (p.Gly23598fs) rs869312076
NM_001267550.2(TTN):c.71083G>T (p.Glu23695Ter) rs1575796530
NM_001267550.2(TTN):c.71321G>A (p.Trp23774Ter) rs727503567
NM_001267550.2(TTN):c.71500C>T (p.Gln23834Ter) rs730880242
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.71634del (p.Ala23879fs) rs727503565
NM_001267550.2(TTN):c.72431G>A (p.Trp24144Ter)
NM_001267550.2(TTN):c.73109G>A (p.Trp24370Ter) rs869312115
NM_001267550.2(TTN):c.73387del (p.Ala24463fs) rs1553607425
NM_001267550.2(TTN):c.73827del (p.Glu24609fs) rs397517695
NM_001267550.2(TTN):c.73828_73835del (p.Val24611fs) rs1708504899
NM_001267550.2(TTN):c.73845del (p.Glu24615fs) rs397517696
NM_001267550.2(TTN):c.74242del (p.Thr24748fs)
NM_001267550.2(TTN):c.74306dup (p.Asn24769fs) rs869312056
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter) rs794729285
NM_001267550.2(TTN):c.74370_74373dup (p.Asn24792delinsAspTer)
NM_001267550.2(TTN):c.74560del (p.Thr24854fs)
NM_001267550.2(TTN):c.74880_74883dup (p.Pro24962fs) rs869312116
NM_001267550.2(TTN):c.75314dup (p.Val25106fs) rs869025558
NM_001267550.2(TTN):c.75443del (p.Gly25148fs) rs1553603456
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs) rs774604740
NM_001267550.2(TTN):c.76116_76117insA (p.His25373fs) rs869312077
NM_001267550.2(TTN):c.76383_76386del (p.Asn25462fs) rs869312078
NM_001267550.2(TTN):c.78095_78098del (p.Arg26032fs) rs869312117
NM_001267550.2(TTN):c.78184G>T (p.Glu26062Ter) rs869312057
NM_001267550.2(TTN):c.78507del (p.Gly26170fs) rs869312058
NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter) rs779996703
NM_001267550.2(TTN):c.79070_79071del (p.Tyr26357fs)
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) rs869025545
NM_001267550.2(TTN):c.8023A>T (p.Arg2675Ter)
NM_001267550.2(TTN):c.80398dup (p.Met26800fs)
NM_001267550.2(TTN):c.80413del (p.Glu26805fs)
NM_001267550.2(TTN):c.80494G>T (p.Glu26832Ter) rs780512337
NM_001267550.2(TTN):c.80950G>T (p.Glu26984Ter) rs1060500562
NM_001267550.2(TTN):c.81262_81269del (p.Gln27088fs) rs869312059
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.81518del (p.Pro27173fs) rs869312079
NM_001267550.2(TTN):c.81521del (p.Pro27174fs) rs1553577362
NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter) rs397517721
NM_001267550.2(TTN):c.81878_81879del (p.Phe27293fs) rs727504660
NM_001267550.2(TTN):c.81886del (p.Glu27296fs) rs727503557
NM_001267550.2(TTN):c.81936_81937delinsAT (p.Asp27312_Gly27313delinsGluTer)
NM_001267550.2(TTN):c.82513del (p.Ile27505fs) rs869312060
NM_001267550.2(TTN):c.82773G>A (p.Trp27591Ter) rs727505288
NM_001267550.2(TTN):c.8307_8308del (p.Ala2770fs) rs869312037
NM_001267550.2(TTN):c.83340_83341delinsTTT (p.Lys27780fs)
NM_001267550.2(TTN):c.83407del (p.Val27803fs) rs727504782
NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter) rs869312118
NM_001267550.2(TTN):c.83575_83579del (p.Lys27859fs)
NM_001267550.2(TTN):c.83603del (p.Gly27868fs) rs727505014
NM_001267550.2(TTN):c.83789_83790del (p.Glu27930fs) rs869025559
NM_001267550.2(TTN):c.83843del (p.Arg27948fs) rs1703956616
NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter) rs869312119
NM_001267550.2(TTN):c.84757del (p.Cys28253fs)
NM_001267550.2(TTN):c.85200_85203del (p.Arg28401fs) rs1703415128
NM_001267550.2(TTN):c.85510G>T (p.Glu28504Ter) rs876657670
NM_001267550.2(TTN):c.85891del (p.Ala28631fs) rs1575610911
NM_001267550.2(TTN):c.86168del (p.Phe28723fs)
NM_001267550.2(TTN):c.86437G>T (p.Glu28813Ter) rs868494032
NM_001267550.2(TTN):c.86459_86460del (p.Ser28820fs) rs869312080
NM_001267550.2(TTN):c.86641del (p.His28881fs) rs869312061
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.86821+1G>C
NM_001267550.2(TTN):c.86967G>A (p.Trp28989Ter) rs869312062
NM_001267550.2(TTN):c.87316G>T (p.Glu29106Ter) rs730880243
NM_001267550.2(TTN):c.87516del (p.Tyr29173fs) rs727503552
NM_001267550.2(TTN):c.87624C>A (p.Tyr29208Ter) rs772121356
NM_001267550.2(TTN):c.87705C>G (p.Tyr29235Ter) rs1575584918
NM_001267550.2(TTN):c.87706+1G>C
NM_001267550.2(TTN):c.87716del (p.Gly29239fs) rs869312028
NM_001267550.2(TTN):c.8780_8781insAT (p.Phe2927fs) rs2091199299
NM_001267550.2(TTN):c.87849del (p.Leu29283fs) rs869025554
NM_001267550.2(TTN):c.87887_87890del (p.His29296fs) rs869312120
NM_001267550.2(TTN):c.89197_89197+2del rs397517741
NM_001267550.2(TTN):c.89750dup (p.Val29918fs) rs869312063
NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter) rs727505224
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs) rs869312081
NM_001267550.2(TTN):c.90087_90088del (p.Glu30029fs) rs869312064
NM_001267550.2(TTN):c.90322_90323insT (p.Glu30108fs) rs869312082
NM_001267550.2(TTN):c.90587del (p.Lys30196fs) rs397517749
NM_001267550.2(TTN):c.91097_91100del (p.Arg30366fs) rs769422187
NM_001267550.2(TTN):c.91341_91343delinsTAAGTGGGTGTGA (p.Leu30447_Arg30448delinsPheLysTrpValTer) rs727505076
NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter) rs727504646
NM_001267550.2(TTN):c.91613_91620del (p.Ile30538fs)
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892
NM_001267550.2(TTN):c.92478dup (p.Val30827fs) rs2154147931
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter) rs869312065
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.93897del (p.Phe31299fs) rs397517758
NM_001267550.2(TTN):c.93974C>A (p.Ser31325Ter)
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs) rs727503547
NM_001267550.2(TTN):c.94249del (p.Val31417fs) rs869025555
NM_001267550.2(TTN):c.94344_94347del (p.Lys31448fs) rs727503546
NM_001267550.2(TTN):c.94562dup (p.Thr31522fs) rs869312083
NM_001267550.2(TTN):c.94805_94806del (p.Pro31602fs)
NM_001267550.2(TTN):c.94852_94858del (p.Ala31618fs) rs869312066
NM_001267550.2(TTN):c.95415_95416+2del rs769407533
NM_001267550.2(TTN):c.95416+4_95416+7del
NM_001267550.2(TTN):c.95966del (p.Asn31989fs) rs72648265
NM_001267550.2(TTN):c.97336G>T (p.Gly32446Ter)
NM_001267550.2(TTN):c.97492+1G>C rs727505319
NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter) rs727504679
NM_001267550.2(TTN):c.98265_98268dup (p.His32757fs) rs869312067
NM_001267550.2(TTN):c.98528G>A (p.Trp32843Ter) rs727504550
NM_001267550.2(TTN):c.98989+1G>A rs112240298
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) rs727504535
NM_003319.4(TTN):c.45637dup (p.Thr15213fs) rs876657669
NM_003319.4(TTN):c.50226dup (p.Ser16743fs) rs730880343
NM_003319.4(TTN):c.53802_53817del (p.Ala17933_Tyr17934insTer) rs727503559
NM_003319.4(TTN):c.63583dup (p.Tyr21195fs) rs397517750
NM_003319.4(TTN):c.80003_80028+4del rs1553479603
NM_133378.4(TTN):c.10361-1262dup rs876657673
NM_133378.4(TTN):c.41592_41611del (p.Val13865fs) rs727504825
NM_133379.5(TTN):c.13479del (p.Ala4494fs)

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