List of variants reported as likely pathogenic for congenital myopathy by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)	rs68080670	0.01276
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	rs113994096	0.00160
NM_000540.3(RYR1):c.7613C>T (p.Thr2538Met)	rs575446156	0.00003
NM_000540.3(RYR1):c.8518C>T (p.Arg2840Trp)	rs193922830	0.00001
NM_000116.5(TAFAZZIN):c.836del (p.Thr279fs)	rs1557194525
NM_001100.4(ACTA1):c.521C>T (p.Pro174Leu)	rs1057519311
NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met)	rs535661345
NM_006063.3(KLHL41):c.881_890del (p.Asp294fs)

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