List of variants studied for hereditary skeletal muscle disorder by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001848.3(COL6A1):c.1741-6G>A	rs200334019	0.00016
NM_000540.3(RYR1):c.3381+5G>A	rs199691436	0.00001
NM_003000.3(SDHB):c.143A>T (p.Asp48Val)	rs202101384	0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His)	rs587782604	0.00001
NM_003000.3(SDHB):c.769C>G (p.Leu257Val)	rs761350633	0.00001
NC_012920.1(MT-CYB):m.14701C>T	rs1569484669
NM_000070.3(CAPN3):c.1715G>C (p.Arg572Pro)	rs121434544
NM_000116.5(TAFAZZIN):c.632C>A (p.Pro211His)	rs2148212627
NM_001164508.2(NEB):c.21417+1G>A	rs2153515061
NM_001382567.1(STIM1):c.1403del (p.Pro468fs)	rs2133226731
NM_001849.4(COL6A2):c.901-3C>G	rs112317259
NM_004369.4(COL6A3):c.8481del (p.Leu2828fs)	rs2106317762
NM_004370.6(COL12A1):c.8258G>A (p.Gly2753Asp)	rs1768488927
NM_021830.5(TWNK):c.868T>A (p.Leu290Ile)	rs2133937386

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