List of variants reported as pathogenic for hereditary skeletal muscle disorder by UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	rs113994096	0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	rs11394094	0.00159
NM_005476.7(GNE):c.1892C>T (p.Ala631Val)	rs62541771	0.00011

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