ClinVar Miner

List of variants studied for Severe X-linked myotubular myopathy by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys) rs132630305

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