ClinVar Miner

List of variants reported as pathogenic for central core myopathy by Baylor Genetics

Included ClinVar conditions (13):

Central core myopathy
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome
Central core myopathy; King Denborough syndrome
Central core myopathy; Malignant hyperthermia, susceptibility to, 1
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Central core disease, autosomal recessive; Centronuclear myopathy
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Myopathy, RYR1-associated
Central core myopathy; Neuromuscular disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)	rs118192181
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)	rs1456276440
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)	rs118192124

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