List of variants reported as likely pathogenic for hereditary skeletal muscle disorder by Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.5042T>C (p.Leu1681Pro)
NM_000540.3(RYR1):c.12012G>A (p.Gln4004=)
NM_001164508.2(NEB):c.19356T>A (p.Tyr6452Ter)
NM_001848.3:c.19dup

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