ClinVar Miner

List of variants in gene TTN reported as likely pathogenic for Cardiomyopathy

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Gene type:
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Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn) rs794729474 0.00003
NM_001256850.1(TTN):c.51809dup (p.Asp17270fs) rs397517626 0.00001
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter) rs766265889 0.00001
NM_001267550.2(TTN):c.14194C>T (p.Gln4732Ter) rs2081878770 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.67349-2A>C rs753948675 0.00001
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter) rs1575649368 0.00001
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter) rs869312085 0.00001
NM_001267550.2(TTN):c.100887G>A (p.Trp33629Ter) rs1559051231
NM_001267550.2(TTN):c.101001T>A (p.Tyr33667Ter)
NM_001267550.2(TTN):c.102234_102235delinsGT (p.Arg34079Ter) rs1690511212
NM_001267550.2(TTN):c.103845C>G (p.Tyr34615Ter) rs2154134580
NM_001267550.2(TTN):c.104515C>T (p.Arg34839Ter) rs1553488049
NM_001267550.2(TTN):c.11657del (p.Asp3886fs) rs397517826
NM_001267550.2(TTN):c.11913G>A (p.Trp3971Ter) rs749961489
NM_001267550.2(TTN):c.12744_12745del (p.Arg4249fs) rs2154318180
NM_001267550.2(TTN):c.12870dup (p.Val4291fs) rs869025556
NM_001267550.2(TTN):c.13066_13087dup (p.Pro4363delinsHisHisTer) rs2154317982
NM_001267550.2(TTN):c.1558del (p.Thr520fs) rs1561445221
NM_001267550.2(TTN):c.2775+1G>T rs1057346353
NM_001267550.2(TTN):c.3462C>G (p.Tyr1154Ter) rs2154348959
NM_001267550.2(TTN):c.40537_40540del (p.Glu13513fs) rs2061340651
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.42486_42489del (p.Cys14163fs) rs797046064
NM_001267550.2(TTN):c.43326_43327del (p.Gly14443fs) rs2154222273
NM_001267550.2(TTN):c.43509del (p.Asp14505fs)
NM_001267550.2(TTN):c.44035C>T (p.Arg14679Ter) rs776970935
NM_001267550.2(TTN):c.44294dup (p.Leu14766fs)
NM_001267550.2(TTN):c.45758_45764del (p.Tyr15253fs) rs1559873786
NM_001267550.2(TTN):c.45852_45853del (p.His15284fs) rs1266824761
NM_001267550.2(TTN):c.46089_46090del (p.Cys15363fs) rs2154211017
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter) rs368200299
NM_001267550.2(TTN):c.47142T>A (p.Cys15714Ter) rs2154209488
NM_001267550.2(TTN):c.47211_47212del (p.Arg15737fs)
NM_001267550.2(TTN):c.48212C>G (p.Ser16071Ter)
NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter) rs397517601
NM_001267550.2(TTN):c.51459_51462del (p.Asp17153fs) rs886043718
NM_001267550.2(TTN):c.53648G>A (p.Trp17883Ter) rs1171413936
NM_001267550.2(TTN):c.54382-12_54387delinsCT rs1559712733
NM_001267550.2(TTN):c.54811+1G>A rs1205836993
NM_001267550.2(TTN):c.56741del (p.Ser18914fs) rs1553663867
NM_001267550.2(TTN):c.57152del (p.Thr19051fs)
NM_001267550.2(TTN):c.57166G>T (p.Gly19056Ter)
NM_001267550.2(TTN):c.584-1G>T
NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter) rs1553644307
NM_001267550.2(TTN):c.60399del (p.Ser20134fs) rs727504466
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter) rs869312055
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter) rs794729278
NM_001267550.2(TTN):c.61898del (p.Leu20632_Leu20633insTer)
NM_001267550.2(TTN):c.62830del (p.Lys20943_Ile20944insTer)
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs) rs876657666
NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter) rs368452607
NM_001267550.2(TTN):c.63363_63367del (p.Ala21122fs) rs1559556267
NM_001267550.2(TTN):c.63556delinsTA (p.Val21186fs) rs2154182456
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.64098del (p.Glu21366fs) rs1576018303
NM_001267550.2(TTN):c.64828del (p.Ala21610fs)
NM_001267550.2(TTN):c.65697dup (p.Asp21900fs) rs2154178712
NM_001267550.2(TTN):c.65796dup (p.Asp21933fs)
NM_001267550.2(TTN):c.658C>T (p.Arg220Ter) rs748313513
NM_001267550.2(TTN):c.66251dup (p.Ser22085fs) rs2047912002
NM_001267550.2(TTN):c.66525_66528dup (p.Trp22177fs)
NM_001267550.2(TTN):c.68357del (p.Asn22786fs)
NM_001267550.2(TTN):c.69104dup (p.Thr23036fs) rs1559469421
NM_001267550.2(TTN):c.69225T>A (p.Tyr23075Ter) rs2046607104
NM_001267550.2(TTN):c.69379C>T (p.Gln23127Ter)
NM_001267550.2(TTN):c.70745dup (p.Thr23583fs) rs1559448864
NM_001267550.2(TTN):c.71202dup (p.Lys23735fs) rs1553611989
NM_001267550.2(TTN):c.71329_71332dup (p.Ala23778fs) rs1709484351
NM_001267550.2(TTN):c.72826del (p.Thr24276fs) rs971618751
NM_001267550.2(TTN):c.73347del (p.Phe24449fs) rs2154170352
NM_001267550.2(TTN):c.73939C>T (p.Arg24647Ter) rs2154169928
NM_001267550.2(TTN):c.74080G>T (p.Glu24694Ter)
NM_001267550.2(TTN):c.74880_74883dup (p.Pro24962fs) rs869312116
NM_001267550.2(TTN):c.7719_7720dup (p.Pro2574fs) rs2154344521
NM_001267550.2(TTN):c.78063del (p.Val26022fs)
NM_001267550.2(TTN):c.78395_78396insG (p.Asp26132fs) rs2154166489
NM_001267550.2(TTN):c.78588_78624dup (p.Glu26209fs) rs1706342425
NM_001267550.2(TTN):c.79809dup (p.Val26604fs)
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.81340_81344del (p.Lys27114fs) rs886038928
NM_001267550.2(TTN):c.8219G>A (p.Trp2740Ter)
NM_001267550.2(TTN):c.82912del (p.Glu27638fs)
NM_001267550.2(TTN):c.8324_8330delinsTT (p.Ser2775fs)
NM_001267550.2(TTN):c.84056C>A (p.Ser28019Ter) rs769665204
NM_001267550.2(TTN):c.84504del (p.Lys28168fs) rs1703692114
NM_001267550.2(TTN):c.85510G>T (p.Glu28504Ter) rs876657670
NM_001267550.2(TTN):c.85835C>A (p.Ser28612Ter)
NM_001267550.2(TTN):c.86152G>T (p.Gly28718Ter) rs2154158315
NM_001267550.2(TTN):c.86290_86303delinsA (p.Leu28764fs) rs1064792916
NM_001267550.2(TTN):c.87354del (p.Ala29119fs) rs1559262463
NM_001267550.2(TTN):c.87877del (p.Arg29293fs) rs2154155591
NM_001267550.2(TTN):c.91544_91554del (p.Ile30515fs) rs1559192617
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer) rs886044536
NM_001267550.2(TTN):c.93541G>T (p.Glu31181Ter) rs1243301263
NM_001267550.2(TTN):c.93665_93668dup (p.Leu31224fs) rs1697890809
NM_001267550.2(TTN):c.94634del (p.Arg31545fs) rs1697365096
NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter) rs1322596650
NM_001267550.2(TTN):c.95075dup (p.Asn31692fs) rs1697077852
NM_001267550.2(TTN):c.95593_95594del (p.Asp31865fs)
NM_001267550.2(TTN):c.9571C>T (p.Gln3191Ter)
NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter) rs746115846
NM_001267550.2(TTN):c.99103del (p.Val33035fs) rs1559079166
NM_133378.4(TTN):c.41592_41611del (p.Val13865fs) rs727504825

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