ClinVar Miner

List of variants reported as pathogenic for X-linked centronuclear myopathy by Invitae

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP
NM_000252.2(MTM1):c.1210G>A (p.Glu404Lys) rs781933660
NM_000252.2(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000252.2(MTM1):c.1349_1353+4del rs797045715
NM_000252.2(MTM1):c.1420C>T (p.Arg474Ter) rs587783792
NM_000252.2(MTM1):c.431delT (p.Leu144Argfs) rs587783826
NM_000252.2(MTM1):c.670C>T (p.Arg224Ter) rs132630306
NM_000252.2(MTM1):c.70C>T (p.Arg24Ter) rs398123275
NM_000252.2(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000252.2(MTM1):c.867+1G>A rs587783858

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