List of variants reported as pathogenic for hereditary skeletal muscle disorder by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000023.4(SGCA):c.790_791dup (p.Gly265fs)	rs1905254738
NM_000182.5(HADHA):c.2134_2138dup (p.Gly715fs)	rs1669501514
NM_002693.3(POLG):c.3630C>A (p.Tyr1210Ter)	rs139562274
NM_005138.3(SCO2):c.227_230del (p.Leu76fs)
NM_021830.5(TWNK):c.1422G>C (p.Trp474Cys)	rs111033574

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