ClinVar Miner

List of variants studied for Central core myopathy by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)	rs112563513	0.00001
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)	rs28933396

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