ClinVar Miner

List of variants in gene TTN reported as likely pathogenic by Institute of Human Genetics, University of Wuerzburg

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.50723del (p.Lys16908fs)
NM_001267550.2(TTN):c.5383A>T (p.Lys1795Ter) rs1574659116
NM_001267550.2(TTN):c.71083G>T (p.Glu23695Ter) rs1575796530
NM_001267550.2(TTN):c.74080G>T (p.Glu24694Ter)
NM_001267550.2(TTN):c.79809dup (p.Val26604fs)
NM_001267550.2(TTN):c.87877del (p.Arg29293fs) rs2154155591

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