ClinVar Miner

List of variants reported as pathogenic for X-linked centronuclear myopathy by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

Included ClinVar conditions (1):
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Total variants: 12
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HGVS dbSNP
NM_000252.2(MTM1):c.1053+1G>A rs587783751
NM_000252.2(MTM1):c.1089dup (p.Val364fs) rs587783752
NM_000252.2(MTM1):c.1261-10A>G rs397518445
NM_000252.2(MTM1):c.1261C>T (p.Arg421Ter) rs587783771
NM_000252.2(MTM1):c.1381C>T (p.Gln461Ter) rs782234944
NM_000252.2(MTM1):c.205C>T (p.Arg69Cys) rs132630304
NM_000252.2(MTM1):c.342_342+4del rs797045717
NM_000252.2(MTM1):c.593A>C (p.Tyr198Ser) rs1569565497
NM_000252.2(MTM1):c.664C>T (p.Arg222Ter) rs587783847
NM_000252.2(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000252.2(MTM1):c.757C>T (p.Arg253Ter) rs587783854
NM_000252.2(MTM1):c.969dup (p.Val324fs) rs587783865

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