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

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Total variants: 5

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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.6697C>T (p.Gln2233Ter)	rs587777672
NM_005876.5(SPEG):c.8270G>T (p.Gly2757Val)	rs587777676

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