ClinVar Miner

List of variants in gene MTM1 reported as uncertain significance for X-linked centronuclear myopathy

Included ClinVar conditions (1):
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Total variants: 24
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HGVS dbSNP
NM_000252.2(MTM1):c.1225A>G (p.Lys409Glu) rs1569565526
NM_000252.2(MTM1):c.1260+5G>A rs587783769
NM_000252.2(MTM1):c.1353G>A (p.Gln451=) rs587783781
NM_000252.2(MTM1):c.1367T>C (p.Phe456Ser) rs587783783
NM_000252.2(MTM1):c.137-7T>G rs587783784
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.141A>G (p.Lys47=) rs587783790
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.1701C>T (p.Tyr567=) rs587783806
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.233A>T (p.Asp78Val)
NM_000252.2(MTM1):c.481G>A (p.Val161Met)
NM_000252.2(MTM1):c.526C>A (p.Gln176Lys) rs587783829
NM_000252.2(MTM1):c.530G>T (p.Gly177Val)
NM_000252.2(MTM1):c.543C>G (p.His181Gln)
NM_000252.2(MTM1):c.5C>T (p.Ala2Val)
NM_000252.2(MTM1):c.65C>T (p.Thr22Met)
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+4A>T rs1322584849

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