List of variants reported as pathogenic for hereditary skeletal muscle disorder by Centogene AG - the Rare Disease Company

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)	rs140291094	0.00039
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)	rs121908188	0.00030
NM_005476.7(GNE):c.1892C>T (p.Ala631Val)	rs62541771	0.00011
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)	rs121918044	0.00004
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)	rs752199191	0.00003
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro)	rs757917335	0.00002
NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del)	rs367543052
NM_000426.4(LAMA2):c.6488del (p.Lys2163fs)	rs886039482
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)	rs121909095
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)	rs398124245
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter)	rs104893898
NM_004006.3(DMD):c.1087C>T (p.Gln363Ter)	rs2059695805
NM_006790.3(MYOT):c.179C>G (p.Ser60Cys)	rs121908458

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