List of variants reported as pathogenic for hereditary skeletal muscle disorder by Breakthrough Genomics, Breakthrough Genomics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)	rs201725369	0.00016
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)	rs80338958	0.00003
NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile)	rs202013297	0.00003
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro)	rs757917335	0.00002
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)	rs863224956	0.00001
NM_000070.3(CAPN3):c.2050+1G>A	rs768374736
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)	rs121909092
NM_004006.3(DMD):c.3457A>T (p.Lys1153Ter)	rs2098349366
NM_004006.3(DMD):c.4327C>T (p.Gln1443Ter)	rs1603632322
NM_004006.3(DMD):c.633dup (p.Leu212fs)	rs2148750700

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