ClinVar Miner

List of variants in gene TTN reported as pathogenic by CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

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Total variants: 9
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HGVS dbSNP
NM_001256850.1(TTN):c.81898+2T>A rs397517735
NM_001256850.1(TTN):c.92569+1G>C rs727505319
NM_001267550.2(TTN):c.51739+1G>C rs727504799
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) rs371678190
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.86387_86391del (p.Arg28796fs) rs794729354
NM_001267550.2(TTN):c.91839dup (p.Val30614fs) rs730880365
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) rs869320740

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