ClinVar Miner

List of variants in gene TTN reported by Blueprint Genetics,

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Gene type:
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Total variants: 115
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HGVS dbSNP
NM_001256850.1(TTN):c.39358C>T (p.Pro13120Ser) rs192766485
NM_001256850.1(TTN):c.43360C>T (p.Arg14454Ter) rs374140736
NM_001256850.1(TTN):c.43940delC (p.Pro14647Leufs) rs794729320
NM_001256850.1(TTN):c.44725+2delT rs727504851
NM_001256850.1(TTN):c.54278_54279delCT (p.Pro18093Argfs) rs752948913
NM_001256850.1(TTN):c.70327C>T (p.Arg23443Ter) rs794729286
NM_001256850.1(TTN):c.82117C>T (p.Arg27373Ter) rs776065839
NM_001256850.1(TTN):c.84977_84980delATTA (p.Asn28326Metfs) rs869312081
NM_001256850.1(TTN):c.90492C>A (p.Phe30164Leu) rs587780983
NM_001256850.1(TTN):c.92569+1G>C rs727505319
NM_001267550.1(TTN):c.33513_33515dup (p.Glu11172_Tyr11173insGlu) rs368327166
NM_001267550.1:c.97555_97558dup
NM_001267550.2(TTN):c.100409_100410del (p.Asn33471Serfs)
NM_001267550.2(TTN):c.10120A>T (p.Lys3374Ter) rs770029258
NM_001267550.2(TTN):c.101943C>G (p.Tyr33981Ter)
NM_001267550.2(TTN):c.103360delG (p.Glu34454Asnfs) rs760768093
NM_001267550.2(TTN):c.103599_103602del (p.Arg34534Asnfs) rs730880246
NM_001267550.2(TTN):c.104010C>A (p.Tyr34670Ter) rs751039219
NM_001267550.2(TTN):c.105186dup (p.Ala35063Cysfs)
NM_001267550.2(TTN):c.105514_105516delTCT (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter) rs779948923
NM_001267550.2(TTN):c.107780_107790delAAGTAACATGGinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) rs281864927
NM_001267550.2(TTN):c.11657delA (p.Asp3886Valfs) rs397517826
NM_001267550.2(TTN):c.12870dupA (p.Val4291Serfs) rs869025556
NM_001267550.2(TTN):c.23711A>T (p.Asn7904Ile)
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys) rs200325324
NM_001267550.2(TTN):c.2775+4G>A rs548681281
NM_001267550.2(TTN):c.29962+1G>T rs774961188
NM_001267550.2(TTN):c.34132del (p.Leu11378Tyrfs) rs869025551
NM_001267550.2(TTN):c.39030del (p.Pro13011Hisfs)
NM_001267550.2(TTN):c.41383G>T (p.Gly13795Ter)
NM_001267550.2(TTN):c.41609-2A>C rs730880244
NM_001267550.2(TTN):c.45322C>T (p.Arg15108Ter) rs1060500405
NM_001267550.2(TTN):c.45896-2A>G rs869025548
NM_001267550.2(TTN):c.49003dup (p.Asn16335Lysfs)
NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter)
NM_001267550.2(TTN):c.49813del (p.Val16605Phefs) rs730880245
NM_001267550.2(TTN):c.50858-3C>T rs587782987
NM_001267550.2(TTN):c.52240del (p.Asp17415Thrfs)
NM_001267550.2(TTN):c.53432G>A (p.Trp17811Ter)
NM_001267550.2(TTN):c.54990dup (p.Thr18331Tyrfs) rs869025552
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.57847+5_57847+8delGTAA rs587782988
NM_001267550.2(TTN):c.58259G>A (p.Trp19420Ter) rs869025544
NM_001267550.2(TTN):c.61339del (p.Ile20447Terfs)
NM_001267550.2(TTN):c.64098del (p.Glu21366Aspfs)
NM_001267550.2(TTN):c.64915C>T (p.Arg21639Ter) rs1432889079
NM_001267550.2(TTN):c.65576-2A>G rs869025549
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186
NM_001267550.2(TTN):c.67637-2A>G rs869025550
NM_001267550.2(TTN):c.68437G>T (p.Glu22813Ter) rs200797552
NM_001267550.2(TTN):c.69639dup (p.Val23214Cysfs) rs869025557
NM_001267550.2(TTN):c.69783G>A (p.Trp23261Ter) rs730880241
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.72227T>A (p.Leu24076Ter)
NM_001267550.2(TTN):c.7330+5G>C rs869025547
NM_001267550.2(TTN):c.75314dup (p.Val25106Glyfs) rs869025558
NM_001267550.2(TTN):c.76373del (p.Pro25458Glnfs) rs869025553
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter) rs545954490
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) rs869025545
NM_001267550.2(TTN):c.80679del (p.Gly26894Glufs)
NM_001267550.2(TTN):c.83789_83790del (p.Glu27930Glyfs) rs869025559
NM_001267550.2(TTN):c.85639_85651del (p.Pro28547Glnfs)
NM_001267550.2(TTN):c.85713G>A (p.Trp28571Ter)
NM_001267550.2(TTN):c.86277A>G (p.Glu28759=)
NM_001267550.2(TTN):c.86642del (p.His28881Profs)
NM_001267550.2(TTN):c.87316G>T (p.Glu29106Ter) rs730880243
NM_001267550.2(TTN):c.87849del (p.Leu29283Phefs) rs869025554
NM_001267550.2(TTN):c.88421G>A (p.Trp29474Ter) rs869025546
NM_001267550.2(TTN):c.88842_88858del (p.Gly29617Terfs)
NM_001267550.2(TTN):c.89552del (p.Ala29853Leufs)
NM_001267550.2(TTN):c.90544A>T (p.Lys30182Ter)
NM_001267550.2(TTN):c.90560_90564del (p.Thr30188Glufs)
NM_001267550.2(TTN):c.91715dup (p.Asn30572Lysfs) rs779129892
NM_001267550.2(TTN):c.94249del (p.Val31417Serfs) rs869025555
NM_001267550.2(TTN):c.94667G>A (p.Trp31556Ter)
NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter)
NM_001267550.2(TTN):c.95966del (p.Asn31989Thrfs) rs72648265
NM_003319.4(TTN):c.57895C>T (p.Arg19299Ter) rs770038577
NM_133378.4(TTN):c.10360+7045C>T rs201273719
NM_133378.4(TTN):c.11768C>A (p.Pro3923His) rs730880237
NM_133378.4(TTN):c.13451-7C>T rs371785683
NM_133378.4(TTN):c.17672-4A>G rs72648965
NM_133378.4(TTN):c.23117A>G (p.Tyr7706Cys) rs199557654
NM_133378.4(TTN):c.23131A>G (p.Ile7711Val) rs72648994
NM_133378.4(TTN):c.26542C>T (p.His8848Tyr) rs72650011
NM_133378.4(TTN):c.28999G>A (p.Glu9667Lys) rs199620003
NM_133378.4(TTN):c.30515_30517delAAG (p.Glu10172del) rs397517549
NM_133378.4(TTN):c.32164C>A (p.Pro10722Thr) rs72650064
NM_133378.4(TTN):c.32704+8delA rs727504922
NM_133378.4(TTN):c.37704G>T (p.Lys12568Asn) rs72677225
NM_133378.4(TTN):c.49259-3C>T rs375979145
NM_133378.4(TTN):c.55205_55206insC (p.Glu18403Argfs) rs876657666
NM_133378.4(TTN):c.55885A>G (p.Ile18629Val) rs72646855
NM_133378.4(TTN):c.7057+2dup rs765019023
NM_133378.4(TTN):c.85970T>C (p.Ile28657Thr) rs727505175
NM_133378.4(TTN):c.96856G>C (p.Val32286Leu) rs55866005
NM_133378.4(TTN):c.97070A>C (p.Glu32357Ala) rs201218828
NM_133378.4(TTN):c.9955G>A (p.Val3319Ile) rs375533809
NM_133379.4(TTN):c.*265+149735C>T rs794729275
NM_133379.4(TTN):c.11794G>T (p.Glu3932Ter) rs869025543
NM_133379.4(TTN):c.13939delG (p.Glu4647Lysfs) rs781363456
NM_133379.4(TTN):c.16515_16516insA (p.Glu5506Argfs) rs730880247
NM_133379.4(TTN):c.2227G>A (p.Ala743Thr) rs370728359
NM_133379.4(TTN):c.3002T>C (p.Met1001Thr) rs148269839
NM_133379.4(TTN):c.752A>G (p.His251Arg) rs587782983
NM_133432.3(TTN):c.11313T>G (p.Tyr3771Ter) rs587782984
NM_133432.3(TTN):c.18868G>A (p.Glu6290Lys) rs730880238
NM_133432.3(TTN):c.19402G>A (p.Ala6468Thr) rs730880239
NM_133432.3(TTN):c.26699A>G (p.Lys8900Arg) rs730880240
NM_133432.3(TTN):c.30547A>G (p.Thr10183Ala) rs587782985
NM_133432.3(TTN):c.30950G>A (p.Arg10317Gln) rs202076328
NM_133432.3(TTN):c.37252G>A (p.Val12418Met) rs371725212
NM_133432.3(TTN):c.40155_40158delCAAA (p.Lys13386Metfs) rs587782986

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