ClinVar Miner

List of variants in gene TTN reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 107
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HGVS dbSNP
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) rs192001910
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val) rs727505020
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln) rs530537991
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln) rs144531477
NM_001267550.2(TTN):c.11311+1270T>A
NM_001267550.2(TTN):c.11311+1940A>G
NM_001267550.2(TTN):c.11311+3697C>T rs142273664
NM_001267550.2(TTN):c.11311+5536A>G rs145581345
NM_001267550.2(TTN):c.11312-4085G>A rs148147002
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940
NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met) rs199796249
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108
NM_001267550.2(TTN):c.21958T>A (p.Leu7320Ile)
NM_001267550.2(TTN):c.22163A>G (p.Asn7388Ser)
NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu) rs200061856
NM_001267550.2(TTN):c.23065G>A (p.Asp7689Asn) rs727505052
NM_001267550.2(TTN):c.23947G>A (p.Val7983Met) rs1060500564
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser) rs375209098
NM_001267550.2(TTN):c.2601T>A (p.Ser867Arg)
NM_001267550.2(TTN):c.26599G>A (p.Gly8867Arg) rs762113080
NM_001267550.2(TTN):c.26744C>G (p.Ala8915Gly) rs536974988
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654
NM_001267550.2(TTN):c.27994G>A (p.Val9332Met) rs367734747
NM_001267550.2(TTN):c.28924A>G (p.Ser9642Gly) rs367888853
NM_001267550.2(TTN):c.2996G>C (p.Arg999Pro)
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505
NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys) rs772195716
NM_001267550.2(TTN):c.31181T>C (p.Ile10394Thr) rs1219872673
NM_001267550.2(TTN):c.31324G>A (p.Glu10442Lys)
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met) rs72647868
NM_001267550.2(TTN):c.31486C>G (p.His10496Asp) rs1553860465
NM_001267550.2(TTN):c.32136T>G (p.Phe10712Leu) rs1560398106
NM_001267550.2(TTN):c.36049G>A (p.Glu12017Lys)
NM_001267550.2(TTN):c.39089C>A (p.Ala13030Glu)
NM_001267550.2(TTN):c.39250G>T (p.Val13084Leu) rs72650062
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys) rs201035457
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr) rs181189778
NM_001267550.2(TTN):c.44083G>C (p.Glu14695Gln)
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485
NM_001267550.2(TTN):c.44323G>A (p.Val14775Met) rs540115992
NM_001267550.2(TTN):c.45192del (p.Trp15063_Tyr15064insTer) rs1553718908
NM_001267550.2(TTN):c.45652C>T (p.Arg15218Trp) rs371621174
NM_001267550.2(TTN):c.45940A>G (p.Met15314Val) rs1391292606
NM_001267550.2(TTN):c.46928A>G (p.His15643Arg) rs368502650
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871
NM_001267550.2(TTN):c.47196G>C (p.Val15732=) rs369979598
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) rs199640194
NM_001267550.2(TTN):c.48164G>A (p.Arg16055His) rs72677238
NM_001267550.2(TTN):c.48346G>A (p.Val16116Ile) rs367769671
NM_001267550.2(TTN):c.48557G>T (p.Arg16186Leu) rs769784536
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637
NM_001267550.2(TTN):c.51481G>A (p.Ala17161Thr)
NM_001267550.2(TTN):c.51500C>T (p.Thr17167Ile) rs749322226
NM_001267550.2(TTN):c.51527G>C (p.Gly17176Ala) rs768961892
NM_001267550.2(TTN):c.51551T>C (p.Ile17184Thr)
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901
NM_001267550.2(TTN):c.52891G>A (p.Val17631Ile) rs749503285
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu) rs200968679
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro) rs372541479
NM_001267550.2(TTN):c.56693G>A (p.Arg18898His) rs572453785
NM_001267550.2(TTN):c.56884C>T (p.Arg18962Trp) rs556286196
NM_001267550.2(TTN):c.59225A>G (p.Tyr19742Cys) rs1559607092
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr) rs727503588
NM_001267550.2(TTN):c.64238A>G (p.Asp21413Gly) rs375659466
NM_001267550.2(TTN):c.65010A>T (p.Lys21670Asn) rs878892116
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn) rs727503577
NM_001267550.2(TTN):c.67151G>A (p.Ser22384Asn) rs1451120123
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala) rs201381085
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) rs56399205
NM_001267550.2(TTN):c.72514A>G (p.Asn24172Asp) rs1457842450
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys) rs200028088
NM_001267550.2(TTN):c.73765T>C (p.Tyr24589His) rs371821218
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu) rs142453163
NM_001267550.2(TTN):c.76556T>C (p.Ile25519Thr) rs376185524
NM_001267550.2(TTN):c.7739T>C (p.Ile2580Thr) rs1554000030
NM_001267550.2(TTN):c.79342G>A (p.Val26448Met) rs1380054566
NM_001267550.2(TTN):c.79970A>G (p.Asp26657Gly)
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys) rs397517719
NM_001267550.2(TTN):c.82739C>T (p.Thr27580Met) rs748535477
NM_001267550.2(TTN):c.82895C>T (p.Thr27632Ile) rs1229009880
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser) rs727505053
NM_001267550.2(TTN):c.84436G>A (p.Val28146Ile) rs371366196
NM_001267550.2(TTN):c.85789T>C (p.Trp28597Arg)
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu) rs189030321
NM_001267550.2(TTN):c.87600G>C (p.Met29200Ile) rs750362675
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237
NM_001267550.2(TTN):c.89491A>G (p.Lys29831Glu) rs774632104
NM_001267550.2(TTN):c.90614T>A (p.Ile30205Asn)
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val) rs182549226
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His) rs397517756
NM_001267550.2(TTN):c.9348C>G (p.Ile3116Met) rs760230943
NM_001267550.2(TTN):c.96212T>G (p.Ile32071Arg) rs755545981
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His) rs575939045
NM_001267550.2(TTN):c.98806C>T (p.Arg32936Cys) rs764276622
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val) rs727503538
NM_001267550.2(TTN):c.98959T>C (p.Ser32987Pro) rs758494581
NM_001267550.2(TTN):c.98960C>T (p.Ser32987Phe) rs746380940
NM_001267550.2(TTN):c.99335C>A (p.Thr33112Lys) rs374883160
NM_001267550.2(TTN):c.99605T>C (p.Leu33202Pro) rs370632563
NM_133379.5(TTN):c.583+5G>A rs397517663

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