List of variants reported as pathogenic for Myopathy, centronuclear, 5

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_005876.5(SPEG):c.2915_2916delinsA (p.Ala972fs)	rs587777675
NM_005876.5(SPEG):c.3709_3715+29del	rs587777674
NM_005876.5(SPEG):c.4276C>T (p.Arg1426Ter)	rs587777673
NM_005876.5(SPEG):c.4360_4375del (p.Val1454fs)
NM_005876.5(SPEG):c.6618dup (p.Ala2207fs)
NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter)	rs587777672
NM_005876.5(SPEG):c.8270G>T (p.Gly2757Val)	rs587777676
NM_005876.5(SPEG):c.8839C>T (p.Arg2947Ter)	rs768300296
NM_005876.5(SPEG):c.8872C>T (p.Arg2958Ter)
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs)	rs1575201712

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