ClinVar Miner

List of variants in gene combination LOC126806420, TTN reported as uncertain significance for Myopathy, myofibrillar, 9, with early respiratory failure

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.99716del (p.Asn33239fs)
NM_001267550.2(TTN):c.99787A>G (p.Thr33263Ala) rs369648529
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781
NM_001267550.2(TTN):c.99903A>G (p.Glu33301=) rs886055227

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