ClinVar Miner

List of variants in gene TTN reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute

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Total variants: 48
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HGVS dbSNP
NM_001267550.1(TTN):c.42315_42318del rs878854371
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter) rs752697861
NM_001267550.2(TTN):c.103857G>A (p.Trp34619Ter) rs1575253896
NM_001267550.2(TTN):c.104950del (p.Glu34984fs) rs727503533
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279
NM_001267550.2(TTN):c.11311+5478T>G rs72648908
NM_001267550.2(TTN):c.12268C>T (p.Gln4090Ter) rs1574087037
NM_001267550.2(TTN):c.12521_12522CA[1] (p.Gln4175fs) rs1574083547
NM_001267550.2(TTN):c.22743_22744CT[1] (p.Ser7582fs) rs779549899
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476
NM_001267550.2(TTN):c.39731_39748TTGCTCCTGAAGAGGAAA[1] (p.13244_13249IAPEEE[1]) rs139512154
NM_001267550.2(TTN):c.40576_40578GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.40621A>T (p.Lys13541Ter) rs869238992
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=) rs186699871
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001
NM_001267550.2(TTN):c.44481_44483AGA[1] (p.Glu14828del) rs727505315
NM_001267550.2(TTN):c.51581G>A (p.Trp17194Ter) rs1553692290
NM_001267550.2(TTN):c.51654C>G (p.Tyr17218Ter) rs1131691655
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) rs727503607
NM_001267550.2(TTN):c.53984del (p.Met17995fs) rs1553682326
NM_001267550.2(TTN):c.65142C>G (p.Val21714=) rs1575973571
NM_001267550.2(TTN):c.65655del (p.Thr21886fs) rs1575948935
NM_001267550.2(TTN):c.66770-2A>C rs1553624468
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) rs371678190
NM_001267550.2(TTN):c.68923_68924insT (p.Pro22975fs) rs1553617407
NM_001267550.2(TTN):c.69880del (p.Thr23294fs) rs1553614987
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.72347del (p.Asn24116fs) rs1553609675
NM_001267550.2(TTN):c.72663del (p.Pro24223fs) rs1575775337
NM_001267550.2(TTN):c.72826del (p.Thr24276fs) rs971618751
NM_001267550.2(TTN):c.76179_76180insAACTTAGTGAACCAAGCCCTCCT (p.Ser25394fs) rs878854335
NM_001267550.2(TTN):c.76904dup (p.Asn25635fs) rs1553601017
NM_001267550.2(TTN):c.78117G>A (p.Lys26039=) rs772900049
NM_001267550.2(TTN):c.78947dup (p.Ser26317fs) rs1553592841
NM_001267550.2(TTN):c.80692_80697del (p.Lys26898_Ile26899del) rs1385301438
NM_001267550.2(TTN):c.81724G>T (p.Glu27242Ter) rs868349549
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) rs869178171
NM_001267550.2(TTN):c.85295del (p.Leu28432fs) rs1575616801
NM_001267550.2(TTN):c.86076dup (p.Ser28693fs) rs1285329277
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.90706G>T (p.Glu30236Ter) rs974510652
NM_001267550.2(TTN):c.91839dup (p.Val30614fs) rs730880365
NM_001267550.2(TTN):c.92151T>C (p.Tyr30717=) rs182422055
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.97492+1G>C rs727505319
NM_003319.4(TTN):c.13282+39166del rs1553868981
NM_133379.5(TTN):c.15285_15317dup (p.5058_5068TLERYSTPPGE[6]) rs397517815
NM_133379.5(TTN):c.587_589AAG[2] (p.Glu198del) rs771898264

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