ClinVar Miner

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

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Total variants: 23
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HGVS dbSNP
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.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.78947dup (p.Ser26317fs) rs1553592841
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.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.97492+1G>C rs727505319

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