List of variants reported as likely pathogenic for hereditary skeletal muscle disorder by Neurogenomics Lab, Neuroscience Institute, University Of Cape Town

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)	rs147764579	0.00016
NM_015713.5(RRM2B):c.671T>G (p.Ile224Ser)	rs515726196	0.00003
NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr)	rs946415346
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)	rs118192170
NM_001927.4(DES):c.1366G>A (p.Gly456Arg)	rs397516690
NM_005476.7(GNE):c.794T>C (p.Met265Thr)	rs2133068813
NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro)	rs61444459

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