List of variants reported as likely pathogenic for hereditary skeletal muscle disorder by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)	rs141656719	0.00015
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)	rs868791726
NM_001267550.2(TTN):c.13807del (p.Glu4603fs)	rs1574066113
NM_005476.7(GNE):c.1475T>A (p.Ile492Asn)	rs1563930321
NM_005476.7(GNE):c.22C>T (p.Arg8Ter)	rs766420673
NM_173660.5(DOK7):c.1378dup (p.Gln460fs)	rs606231133

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