ClinVar Miner

List of variants studied for Myosin storage myopathy by MGZ Medical Genetics Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.4691A>C (p.Glu1564Ala)
NM_000257.4(MYH7):c.5361A>C (p.Glu1787Asp)
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) rs397516248
NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp) rs28933098

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