ClinVar Miner

List of variants studied for X-linked centronuclear myopathy by Invitae

Included ClinVar conditions (1):
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Total variants: 49
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HGVS dbSNP
NC_000023.10:g.(?_149761067)_(149840078_?)del
NC_000023.10:g.(?_149783042)_(149787632_?)del
NC_000023.10:g.(?_149826274)_(149826520_?)del
NC_000023.10:g.(?_149826274)_(149840088_?)del
NC_000023.10:g.(?_149826294)_(149826500_?)del
NC_000023.10:g.(?_149831886)_(149840088_?)del
NM_000252.2(MTM1):c.1052A>G (p.Lys351Arg) rs150430628
NM_000252.2(MTM1):c.1119G>A (p.Val373=) rs941979306
NM_000252.2(MTM1):c.1204G>A (p.Gly402Arg) rs1569565525
NM_000252.2(MTM1):c.1210G>A (p.Glu404Lys) rs781933660
NM_000252.2(MTM1):c.1260+5G>A rs587783769
NM_000252.2(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000252.2(MTM1):c.1349_1353+4del rs797045715
NM_000252.2(MTM1):c.136+9C>T rs191553188
NM_000252.2(MTM1):c.1367T>C (p.Phe456Ser) rs587783783
NM_000252.2(MTM1):c.1406A>C (p.His469Pro) rs587783789
NM_000252.2(MTM1):c.1406A>G (p.His469Arg) rs587783789
NM_000252.2(MTM1):c.1420C>T (p.Arg474Ter) rs587783792
NM_000252.2(MTM1):c.1454C>T (p.Ala485Val) rs782137551
NM_000252.2(MTM1):c.1505T>A (p.Ile502Lys) rs1557414802
NM_000252.2(MTM1):c.1666C>T (p.Arg556Cys)
NM_000252.2(MTM1):c.1667G>A (p.Arg556His)
NM_000252.2(MTM1):c.1713T>C (p.Leu571=) rs1557415142
NM_000252.2(MTM1):c.1724A>C (p.Gln575Pro) rs1347335331
NM_000252.2(MTM1):c.1724A>G (p.Gln575Arg) rs1347335331
NM_000252.2(MTM1):c.232-7A>G rs373045797
NM_000252.2(MTM1):c.233A>T (p.Asp78Val)
NM_000252.2(MTM1):c.339T>C (p.Cys113=) rs147644722
NM_000252.2(MTM1):c.342_342+4del rs797045717
NM_000252.2(MTM1):c.422C>T (p.Ala141Val) rs140642341
NM_000252.2(MTM1):c.423G>A (p.Ala141=) rs377311110
NM_000252.2(MTM1):c.431del (p.Leu144fs) rs587783826
NM_000252.2(MTM1):c.481G>A (p.Val161Met)
NM_000252.2(MTM1):c.530G>T (p.Gly177Val)
NM_000252.2(MTM1):c.543C>G (p.His181Gln)
NM_000252.2(MTM1):c.575A>G (p.Tyr192Cys) rs587783838
NM_000252.2(MTM1):c.582C>T (p.Leu194=) rs367912069
NM_000252.2(MTM1):c.5C>T (p.Ala2Val)
NM_000252.2(MTM1):c.64-2A>G
NM_000252.2(MTM1):c.65C>T (p.Thr22Met)
NM_000252.2(MTM1):c.670C>T (p.Arg224Ter) rs132630306
NM_000252.2(MTM1):c.679-1G>A rs672601324
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.734C>T (p.Pro245Leu) rs1557413958
NM_000252.2(MTM1):c.76_90del (p.Gly26_Asp30del)
NM_000252.2(MTM1):c.867+1G>A rs587783858
NM_000252.2(MTM1):c.867+4A>T rs1322584849
NM_000252.2(MTM1):c.969del (p.Lys323_Val324insTer) rs587783865

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