List of variants reported as likely pathogenic for hereditary skeletal muscle disorder by Department of Human Genetics, Hannover Medical School

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_213599.3(ANO5):c.173G>A (p.Arg58Gln)	rs749698519	0.00003
NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg)	rs727503883	0.00001
NC_000023.11:g.150649717_150649723del
NM_000116.5(TAFAZZIN):c.350del (p.Lys117fs)

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