ClinVar Miner

List of variants in gene TTN reported as likely pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 73
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HGVS dbSNP
NM_001256850.1(TTN):c.62425+1G>A rs758279518
NM_001267550.2(TTN):c.103705A>T (p.Lys34569Ter) rs1553490574
NM_001267550.2(TTN):c.104087del (p.Pro34696fs) rs1553489404
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter) rs727504184
NM_001267550.2(TTN):c.104399del (p.Arg34800fs) rs747662439
NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter) rs750519430
NM_001267550.2(TTN):c.105077_105078del (p.Tyr35026fs) rs1558999779
NM_001267550.2(TTN):c.105422dup (p.Tyr35141Ter) rs1558995457
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter)
NM_001267550.2(TTN):c.105605_105606del (p.Val35202fs) rs886043462
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter) rs886043924
NM_001267550.2(TTN):c.106137dup (p.Lys35380Ter) rs886044460
NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs) rs794727544
NM_001267550.2(TTN):c.107205G>A (p.Trp35735Ter) rs886044505
NM_001267550.2(TTN):c.107623_107626dup (p.Asn35876delinsIleTer) rs1558958418
NM_001267550.2(TTN):c.107644del (p.Ser35882fs) rs1179955071
NM_001267550.2(TTN):c.47629C>T (p.Gln15877Ter) rs886044009
NM_001267550.2(TTN):c.49336dup (p.Tyr16446fs) rs797044683
NM_001267550.2(TTN):c.51459_51462del (p.Asp17153fs) rs886043718
NM_001267550.2(TTN):c.51883_51892del (p.Lys17295fs) rs886042414
NM_001267550.2(TTN):c.53995G>T (p.Glu17999Ter) rs794727387
NM_001267550.2(TTN):c.54190+1G>A rs756339648
NM_001267550.2(TTN):c.55896_55908del (p.Arg18632fs) rs1553670762
NM_001267550.2(TTN):c.56153G>A (p.Trp18718Ter) rs1477101279
NM_001267550.2(TTN):c.56294del (p.Thr18765fs) rs886044096
NM_001267550.2(TTN):c.56330_56334del (p.Met18777fs) rs1559669161
NM_001267550.2(TTN):c.56359_56360del (p.Pro18787fs) rs1553665556
NM_001267550.2(TTN):c.56716del (p.Glu18906fs) rs1553663997
NM_001267550.2(TTN):c.56806C>T (p.Arg18936Ter) rs72646828
NM_001267550.2(TTN):c.58699_58700GT[1] (p.Val19567_Ser19568insTer) rs1559614642
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs) rs886039027
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter) rs797044692
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs) rs876657666
NM_001267550.2(TTN):c.64680dup (p.Gly21561fs) rs794729330
NM_001267550.2(TTN):c.66160+2T>C rs753146898
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186
NM_001267550.2(TTN):c.67609del (p.Ile22537fs) rs1553622205
NM_001267550.2(TTN):c.68328A>G (p.Thr22776=) rs1553619783
NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs) rs757603460
NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter) rs878854328
NM_001267550.2(TTN):c.70754del (p.Val23585fs) rs886042441
NM_001267550.2(TTN):c.73332C>A (p.Cys24444Ter)
NM_001267550.2(TTN):c.73676_73694del (p.Arg24559fs) rs1559414146
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter) rs794729289
NM_001267550.2(TTN):c.78197dup (p.Tyr26066Ter) rs1553596594
NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter) rs1419374180
NM_001267550.2(TTN):c.79162G>T (p.Gly26388Ter) rs763822931
NM_001267550.2(TTN):c.80850C>G (p.Tyr26950Ter) rs794729291
NM_001267550.2(TTN):c.80997_81012del (p.Ala26998_Tyr26999insTer) rs727503559
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter) rs869038795
NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter) rs886042331
NM_001267550.2(TTN):c.82541_82544dup (p.Arg27515delinsSerTer) rs797044697
NM_001267550.2(TTN):c.82732A>T (p.Lys27578Ter)
NM_001267550.2(TTN):c.84294_84295CT[1] (p.Ser28099fs) rs1553565463
NM_001267550.2(TTN):c.85173G>A (p.Trp28391Ter) rs1553563519
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.88594+1G>T rs794727467
NM_001267550.2(TTN):c.88979_88985del (p.Asp29660fs) rs794727468
NM_001267550.2(TTN):c.90561del (p.Thr30188fs) rs886044318
NM_001267550.2(TTN):c.91798_91799insT (p.Glu30600fs) rs886042502
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter) rs794729301
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer) rs886044536
NM_001267550.2(TTN):c.95009del (p.Arg31670fs) rs1559147521
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys) rs869320742
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) rs794729365
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776
NM_001267550.2(TTN):c.99401G>A (p.Trp33134Ter) rs1559071558
NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter) rs794727539
NM_001267550.2(TTN):c.99919_99920dup (p.Ala33308fs) rs886043854
NM_003319.4(TTN):c.63060_63061del (p.Thr21020_Cys21021insTer) rs773840992
Single allele

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