ClinVar Miner

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

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Total variants: 11
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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.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.40621A>T (p.Lys13541Ter) rs869238992
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001
NM_001267550.2(TTN):c.65655del (p.Thr21886fs) rs1575948935
NM_001267550.2(TTN):c.66770-2A>C rs1553624468

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