List of variants reported as pathogenic for hereditary skeletal muscle disorder by SIB Swiss Institute of Bioinformatics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	rs113994097	0.00081
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)	rs201725369	0.00016
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)	rs141656719	0.00015
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln)	rs116840778	0.00001

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