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: 28
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HGVS dbSNP
NC_000023.10:g.(?_149761067)_(149840078_?)del
NC_000023.10:g.(?_149831886)_(149840088_?)del
NC_000023.10:g.(?_149831896)_(149832092_?)del
NM_000252.2(MTM1):c.1132G>A (p.Gly378Arg) rs587783755
NM_000252.2(MTM1):c.1210G>A (p.Glu404Lys) rs781933660
NM_000252.2(MTM1):c.1261-10A>G rs397518445
NM_000252.2(MTM1):c.1261C>T (p.Arg421Ter) rs587783771
NM_000252.2(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000252.2(MTM1):c.1349_1353+4del rs797045715
NM_000252.2(MTM1):c.1353G>A (p.Gln451=) rs587783781
NM_000252.2(MTM1):c.1420C>T (p.Arg474Ter) rs587783792
NM_000252.2(MTM1):c.1456C>T (p.Arg486Ter) rs587783795
NM_000252.2(MTM1):c.342_342+4del rs797045717
NM_000252.2(MTM1):c.431del (p.Leu144fs) rs587783826
NM_000252.2(MTM1):c.549dup (p.Arg184fs) rs797045719
NM_000252.2(MTM1):c.64-2A>G rs1603123976
NM_000252.2(MTM1):c.664C>T (p.Arg222Ter) rs587783847
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.757C>T (p.Arg253Ter) rs587783854
NM_000252.2(MTM1):c.867+1G>A rs587783858
NM_000252.2(MTM1):c.969del (p.Lys323_Val324insTer) rs587783865
NM_000252.2(MTM1):c.969dup (p.Val324fs) rs587783865
NM_000252.3(MTM1):c.116del (p.Pro39fs)
NM_000252.3(MTM1):c.516del (p.Glu172fs)
NM_000252.3(MTM1):c.624del (p.Ser209fs)
NM_000252.3(MTM1):c.730C>T (p.Gln244Ter)

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