ClinVar Miner

List of variants in gene TTN reported as pathogenic for Hereditary myopathy with early respiratory failure

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Total variants: 9
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HGVS dbSNP
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg) rs869320739
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) rs869320740
NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg) rs869320741
NM_001267550.2(TTN):c.95186G>T (p.Trp31729Leu) rs786205367
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys) rs869320742
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568
NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys) rs869320743
NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp) rs869320744

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