ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 12
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NM_000252.2(MTM1):c.1190A>G (p.Tyr397Cys) rs132630303
NM_000252.2(MTM1):c.1261-10A>G rs397518445
NM_000252.2(MTM1):c.141_144del (p.Glu48fs) rs587783791
NM_000252.2(MTM1):c.205C>T (p.Arg69Cys) rs132630304
NM_000252.2(MTM1):c.469G>A (p.Glu157Lys) rs132630307
NM_000252.2(MTM1):c.566A>G (p.Asn189Ser) rs132630302
NM_000252.2(MTM1):c.605del (p.Leu202fs) rs672601325
NM_000252.2(MTM1):c.670C>T (p.Arg224Ter) rs132630306
NM_000252.2(MTM1):c.679-1G>A rs672601324
NM_000252.2(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_001005360.2(DNM2):c.1856C>G (p.Ser619Trp) rs121909095
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) rs121909095

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