ClinVar Miner

List of variants studied for Severe X-linked myotubular myopathy by 3billion

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys) rs781933660
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000252.3(MTM1):c.1467+1G>T rs587783798

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