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: 15
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NM_001256850.1(TTN):c.92569+1G>C rs727505319
NM_001267550.2(TTN):c.51581G>A (p.Trp17194Ter) rs1553692290
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) rs727503607
NM_001267550.2(TTN):c.53984del (p.Met17995fs) rs1553682326
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.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.82657G>T (p.Gly27553Ter) rs869178171
NM_001267550.2(TTN):c.86076dup (p.Ser28693fs) rs1285329277
NM_001267550.2(TTN):c.90706G>T (p.Glu30236Ter) rs974510652

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