List of variants reported as likely pathogenic for hereditary skeletal muscle disorder by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	rs121918054	0.00096
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)	rs121908188	0.00030
NM_000540.3(RYR1):c.5988C>T (p.Arg1996=)	rs193922787
NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter)	rs761796175

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