ClinVar Miner

List of variants in gene TTN reported as likely pathogenic by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 9
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NM_001267550.2(TTN):c.100446dup (p.Glu33483fs) rs878854281
NM_001267550.2(TTN):c.101494del (p.Ile33832fs) rs1559044465
NM_001267550.2(TTN):c.105810dup (p.Pro35271fs) rs1553484602
NM_001267550.2(TTN):c.11183dup (p.Leu3729fs) rs778172350
NM_001267550.2(TTN):c.13058del (p.Pro4353fs) rs1408345511
NM_001267550.2(TTN):c.22973C>G (p.Ser7658Ter) rs1553908254
NM_001267550.2(TTN):c.28001G>A (p.Trp9334Ter) rs1057519160
NM_001267550.2(TTN):c.30253C>T (p.Gln10085Ter) rs1057519237
NM_001267550.2(TTN):c.72827_72828CT[1] (p.Leu24277fs)

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