ClinVar Miner

List of variants in gene TTN reported as likely pathogenic for Cardiomyopathy

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Total variants: 18
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HGVS dbSNP
NM_001267550.2(TTN):c.100887G>A (p.Trp33629Ter) rs1559051231
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter) rs766265889
NM_001267550.2(TTN):c.1558del (p.Thr520fs) rs1561445221
NM_001267550.2(TTN):c.45758_45764del (p.Tyr15253fs) rs1559873786
NM_001267550.2(TTN):c.52601T>A (p.Leu17534Ter) rs1559746821
NM_001267550.2(TTN):c.54382-12_54387delinsCT rs1559712733
NM_001267550.2(TTN):c.56741del (p.Ser18914fs) rs1553663867
NM_001267550.2(TTN):c.58732+2T>C rs869312054
NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter) rs1553644307
NM_001267550.2(TTN):c.60399del (p.Ser20134fs) rs727504466
NM_001267550.2(TTN):c.63363_63367del (p.Ala21122fs) rs1559556267
NM_001267550.2(TTN):c.69104dup (p.Thr23036fs) rs1559469421
NM_001267550.2(TTN):c.70745dup (p.Thr23583fs) rs1559448864
NM_001267550.2(TTN):c.84056C>A (p.Ser28019Ter) rs769665204
NM_001267550.2(TTN):c.85510G>T (p.Glu28504Ter) rs876657670
NM_001267550.2(TTN):c.87354del (p.Ala29119fs) rs1559262463
NM_001267550.2(TTN):c.91544_91554del (p.Ile30515fs) rs1559192617
NM_133378.4(TTN):c.38532C>A rs368200299

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