List of variants reported as likely pathogenic for hereditary skeletal muscle disorder by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 9

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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_001267550.2(TTN):c.40663G>T (p.Glu13555Ter)
NM_001848.3(COL6A1):c.782_789del (p.Leu261fs)	rs886043354
NM_005476.7(GNE):c.31C>T (p.Arg11Trp)	rs769716748
NM_017739.4(POMGNT1):c.246_262dup (p.Pro88fs)	rs2148217590
NM_152263.4(TPM3):c.535C>T (p.Arg179Cys)

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