List of variants reported as 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	rs28937900	0.00103
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	rs113994098	0.00028
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)	rs118192140	0.00004
NM_001267550.2(TTN):c.64252_64253insGAGTA (p.Tyr21418Ter)
NM_001267550.2(TTN):c.80380C>T (p.Gln26794Ter)	rs2154165062
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs)	rs886042506

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