ClinVar Miner

List of variants reported as pathogenic for X-linked centronuclear myopathy by Victorian Clinical Genetics Services,Murdoch Childrens Research Institute

Included ClinVar conditions (1):

Severe X-linked myotubular myopathy

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP
NM_000252.2(MTM1):c.226G>T (p.Glu76Ter)	rs1057516031

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