List of variants reported as pathogenic for congenital myopathy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)	rs137852769	0.00182
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	rs113994097	0.00081
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	rs113994095	0.00068
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys)	rs74315511	0.00011
NM_001953.5(TYMP):c.1160-1G>A	rs797044455	0.00004
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)	rs118192174	0.00001
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp)	rs121912683	0.00001
NM_000252.3(MTM1):c.1644+1G>A	rs398123272
NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys)	rs1057518940
NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys)	rs2073098775
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)	rs760768093
NM_001267550.2(TTN):c.47961del (p.Gly15988fs)	rs1553707780
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter)	rs751502842

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