ClinVar Miner

List of variants reported as uncertain significance for Central core myopathy by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)	rs587784379	0.00006
NM_000540.3(RYR1):c.14647-3C>G	rs1974401494
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)	rs776252106

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