List of variants studied for hereditary skeletal muscle disorder by Centro de Genética y Biología Molecular, Universidad de San Martín de Porres

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_004006.3(DMD):c.10409del (p.Leu3470fs)	rs2039782181
NM_004006.3(DMD):c.131dup (p.Gln45fs)	rs2080984178
NM_004006.3(DMD):c.1672del (p.Leu558fs)	rs2052703269
NM_004006.3(DMD):c.2348C>G (p.Ser783Ter)	rs2044079791
NM_004006.3(DMD):c.2945T>A (p.Leu982Ter)	rs2040710629
NM_004006.3(DMD):c.3490A>T (p.Lys1164Ter)	rs2098349160
NM_004006.3(DMD):c.44del (p.Asp15fs)	rs2093886453
NM_004006.3(DMD):c.4675-1G>A	rs2097921115
NM_004006.3(DMD):c.4840G>T (p.Gly1614Ter)	rs2097920506
NM_004006.3(DMD):c.5812G>T (p.Glu1938Ter)	rs2097747311
NM_004006.3(DMD):c.6253del (p.Trp2085fs)	rs2097447453
NM_004006.3(DMD):c.7618_7619del (p.Lys2540fs)	rs2086354048
NM_004006.3(DMD):c.7768G>T (p.Glu2590Ter)	rs2082258116
NM_004006.3(DMD):c.803del (p.Leu268fs)	rs2063891560

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