List of variants reported as pathogenic for hereditary skeletal muscle disorder by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000117.3(EMD):c.178del (p.Ser60fs)
NM_001849.4(COL6A2):c.2305_2306del (p.Glu768_Ser769insTer)	rs2078662535
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)	rs606231128

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