ClinVar Miner

List of variants studied for Myopathy, myofibrillar, 9, with early respiratory failure by NeuroMeGen, Hospital Clinico Santiago de Compostela

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.22480T>C (p.Ser7494Pro)	rs1560689563
NM_001267550.2(TTN):c.91615_91616dup (p.Gly30541fs)	rs1559187287

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