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_001267550.2(TTN):c.100411_100412del (p.Asn33471fs) rs1575308833
NM_001267550.2(TTN):c.10120A>T (p.Lys3374Ter) rs770029258
NM_001267550.2(TTN):c.101943C>G (p.Tyr33981Ter) rs1575283255
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.103597_103598GA[1] (p.Arg34534fs) rs730880246
NM_001267550.2(TTN):c.104010C>A (p.Tyr34670Ter) rs751039219
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828
NM_001267550.2(TTN):c.105186dup (p.Ala35063fs) rs1558998118
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter) rs779948923
NM_001267550.2(TTN):c.11311+2518G>T rs869025543
NM_001267550.2(TTN):c.11311+4663del rs781363456
NM_001267550.2(TTN):c.11312-3964_11312-3963insA rs730880247
NM_001267550.2(TTN):c.11657del (p.Asp3886fs) rs397517826
NM_001267550.2(TTN):c.12027T>G (p.Tyr4009Ter) rs587782984
NM_001267550.2(TTN):c.12870dup (p.Val4291fs) rs869025556
NM_001267550.2(TTN):c.15500C>A (p.Pro5167His) rs730880237
NM_001267550.2(TTN):c.17183-7C>T rs371785683
NM_001267550.2(TTN):c.21404-4A>G rs72648965
NM_001267550.2(TTN):c.2227G>A (p.Ala743Thr) rs370728359
NM_001267550.2(TTN):c.23711A>T (p.Asn7904Ile) rs766762625
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys) rs200325324
NM_001267550.2(TTN):c.29962+1G>T rs774961188
NM_001267550.2(TTN):c.3002T>C (p.Met1001Thr) rs148269839
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011
NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys) rs199620003
NM_001267550.2(TTN):c.33501_33503AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.34132del (p.Leu11378fs) rs869025551
NM_001267550.2(TTN):c.34241_34243AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.39032del (p.Pro13011fs) rs1576980363
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.41383G>T (p.Gly13795Ter) rs1576742510
NM_001267550.2(TTN):c.41609-2A>C rs730880244
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485
NM_001267550.2(TTN):c.45322C>T (p.Arg15108Ter) rs1060500405
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225
NM_001267550.2(TTN):c.45688G>A (p.Glu15230Lys) rs730880238
NM_001267550.2(TTN):c.45896-2A>G rs869025548
NM_001267550.2(TTN):c.46222G>A (p.Ala15408Thr) rs730880239
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) rs374140736
NM_001267550.2(TTN):c.48863del (p.Pro16288fs) rs794729320
NM_001267550.2(TTN):c.49004dup (p.Asn16335fs) rs1576461647
NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter) rs570046043
NM_001267550.2(TTN):c.49648+2del rs727504851
NM_001267550.2(TTN):c.49813del (p.Val16605fs) rs730880245
NM_001267550.2(TTN):c.50858-3C>T rs587782987
NM_001267550.2(TTN):c.53432G>A (p.Trp17811Ter) rs1576359214
NM_001267550.2(TTN):c.53519A>G (p.Lys17840Arg) rs730880240
NM_001267550.2(TTN):c.54990dup (p.Thr18331fs) rs869025552
NM_001267550.2(TTN):c.56963-3C>T rs375979145
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.57367A>G (p.Thr19123Ala) rs587782985
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275
NM_001267550.2(TTN):c.57770G>A (p.Arg19257Gln) rs202076328
NM_001267550.2(TTN):c.57847+5_57847+8del rs587782988
NM_001267550.2(TTN):c.58259G>A (p.Trp19420Ter) rs869025544
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs) rs752948913
NM_001267550.2(TTN):c.61339del (p.Arg20446_Ile20447insTer) rs1576086839
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs) rs876657666
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855
NM_001267550.2(TTN):c.64072G>A (p.Val21358Met) rs371725212
NM_001267550.2(TTN):c.64098del (p.Glu21366fs) rs1576018303
NM_001267550.2(TTN):c.64915C>T (p.Arg21639Ter) rs1432889079
NM_001267550.2(TTN):c.65576-2A>G rs869025549
NM_001267550.2(TTN):c.66975_66978del (p.Lys22326fs) rs587782986
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.Val23214fs) 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) rs1575780854
NM_001267550.2(TTN):c.7330+5G>C rs869025547
NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter) rs794729286
NM_001267550.2(TTN):c.752A>G (p.His251Arg) rs587782983
NM_001267550.2(TTN):c.75314dup (p.Val25106fs) rs869025558
NM_001267550.2(TTN):c.76373del (p.Pro25458fs) 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.Gly26894fs) rs1575671618
NM_001267550.2(TTN):c.83789_83790del (p.Glu27930fs) rs869025559
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577
NM_001267550.2(TTN):c.85640_85652del (p.Pro28547fs) rs762286447
NM_001267550.2(TTN):c.85713G>A (p.Trp28571Ter) rs1575612435
NM_001267550.2(TTN):c.86277A>G (p.Glu28759=) rs1335123374
NM_001267550.2(TTN):c.86642del (p.His28881fs) rs1575603394
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter) rs776065839
NM_001267550.2(TTN):c.87316G>T (p.Glu29106Ter) rs730880243
NM_001267550.2(TTN):c.87849del (p.Leu29283fs) rs869025554
NM_001267550.2(TTN):c.88421G>A (p.Trp29474Ter) rs869025546
NM_001267550.2(TTN):c.88848_88864del (p.Ile29616_Gly29617insTer) rs1575544917
NM_001267550.2(TTN):c.89553del (p.Ala29853fs) rs1575529262
NM_001267550.2(TTN):c.89896_89899ATTA[1] (p.Asn29967fs) rs869312081
NM_001267550.2(TTN):c.90544A>T (p.Lys30182Ter) rs1575519034
NM_001267550.2(TTN):c.90562_90566del (p.Thr30188fs) rs1575518825
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892
NM_001267550.2(TTN):c.93674T>C (p.Ile31225Thr) rs727505175
NM_001267550.2(TTN):c.94249del (p.Val31417fs) rs869025555
NM_001267550.2(TTN):c.94667G>A (p.Trp31556Ter) rs868156117
NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu) rs587780983
NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter) rs746115846
NM_001267550.2(TTN):c.95966del (p.Asn31989fs) rs72648265
NM_001267550.2(TTN):c.97492+1G>C rs727505319
NM_001267550.2(TTN):c.97551_97554ACTT[3] (p.Trp32520fs) rs1575386270
NM_001267550.2(TTN):c.9955G>A (p.Val3319Ile) rs375533809
NM_003319.4(TTN):c.25047del (p.Asp8350fs) rs1576379332
NM_003319.4(TTN):c.80585_80595delinsTGAAAGAAAAA (p.Glu26862_Trp26865delinsValLysGluLys) rs281864927
NM_133379.5(TTN):c.16321C>T (p.Arg5441Ter) rs201273719
NM_133379.5(TTN):c.2775+4G>A rs548681281
NM_133379.5(TTN):c.7057+2dup rs765019023

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