List of variants reported as likely pathogenic for congenital structural myopathy by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000183.3(HADHB):c.182G>A (p.Arg61His)	rs121913132	0.00005
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln)	rs796052888	0.00001
NC_012920.1(MT-TL1):m.3243A>G	rs199474657
NM_001164508.2(NEB):c.19843_19853del (p.Tyr6615fs)
NM_152263.4(TPM3):c.535C>T (p.Arg179Cys)

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