List of variants reported as likely pathogenic for hereditary skeletal muscle disorder by Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln)	rs398123143	0.00001
NM_001849.4(COL6A2):c.946G>A (p.Gly316Ser)	rs762882543	0.00001
NM_000257.4(MYH7):c.3119A>G (p.Gln1040Arg)
NM_001100.4(ACTA1):c.685A>G (p.Met229Val)	rs794727714
NM_001267550.2(TTN):c.101247dup (p.Ile33750fs)
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met)	rs794727419
NM_182914.3(SYNE2):c.14503dup (p.Ser4835fs)
NM_182961.4(SYNE1):c.24001_24002del (p.Trp8001fs)

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