ClinVar Miner

List of variants in gene TTN reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 5
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NM_001267550.2(TTN):c.105486del (p.Trp35162fs) rs1553485330
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) rs374140736
NM_001267550.2(TTN):c.58567_58568dup (p.Lys19524fs) rs1553650442
NM_001267550.2(TTN):c.86076dup (p.Ser28693fs) rs1285329277
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250

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