List of variants reported as likely pathogenic for congenital myopathy by Clinical Genomics Laboratory, Washington University in St. Louis

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter)	rs886043924	0.00001
NM_000334.4(SCN4A):c.2919del (p.Glu974fs)	rs1567819905
NM_001267550.2(TTN):c.101376T>G (p.Tyr33792Ter)
NM_001267550.2(TTN):c.29863C>T (p.Arg9955Ter)
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter)	rs368200299
NM_001267550.2(TTN):c.46304+2_46304+5del
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs)	rs876657666
NM_001267550.2(TTN):c.69291C>A (p.Cys23097Ter)
NM_001267550.2(TTN):c.69421_69422insAAAAG (p.Gly23141fs)	rs1247353236

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