ClinVar Miner

List of variants in gene TTN reported as pathogenic for Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Distal myopathy Markesbery-Griggs type; Hereditary myopathy with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9

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Total variants: 4
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HGVS dbSNP
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186
NM_001267550.2(TTN):c.75134_75137AGAA[1] (p.Lys25046fs) rs794729340
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) rs869178171
NM_133378.4(TTN):c.10361-1G>A rs869312099

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