ClinVar Miner

List of variants in gene TTN reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 9
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HGVS dbSNP
NM_001256850.1(TTN):c.102454+1G>A rs112188483
NM_001256850.1(TTN):c.102712C>T (p.Gln34238Ter) rs757082154
NM_001256850.1(TTN):c.102966delA (p.Lys34322Asnfs) rs281864930
NM_001256850.1(TTN):c.44725+2delT rs727504851
NM_001256850.1(TTN):c.90211T>C (p.Cys30071Arg) rs869320740
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.86821+2T>A rs397517735
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568

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