ClinVar Miner

List of variants in gene TTN reported as pathogenic for Myopathy, early-onset, with fatal cardiomyopathy

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Total variants: 7
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HGVS dbSNP
NM_001256850.1(TTN):c.102966delA (p.Lys34322Asnfs) rs281864930
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg) rs375159973
NM_001267550.2(TTN):c.107780_107790delAAGTAACATGGinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) rs281864927
NM_001267550.2(TTN):c.22145_22146delTT (p.Phe7382Terfs) rs794727888
NM_001267550.2(TTN):c.9163+1G>C rs1060500549
NM_133378.4(TTN):c.97820_97827delACCAAGTG (p.Gln32608Hisfs) rs199469665
TTN:c.106668delA (p.Lys35556Argfs) rs587776772

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