List of variants in gene MTM1 reported as pathogenic for Centronuclear myopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter)	rs587783771	0.00001
NM_000252.3(MTM1):c.1089dup (p.Val364fs)	rs587783752
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys)	rs781933660
NM_000252.3(MTM1):c.1261-10A>G	rs397518445
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)	rs587783772
NM_000252.3(MTM1):c.141_144del	rs587783791
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys)	rs132630304
NM_000252.3(MTM1):c.535C>T (p.Pro179Ser)	rs587783832
NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys)	rs587783838
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)	rs587783841
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter)	rs132630306

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