ClinVar Miner

List of variants reported as likely pathogenic for congenital multicore myopathy with external ophthalmoplegia by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (7):

Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome
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
Congenital multicore myopathy with external ophthalmoplegia

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln)	rs148399313	0.00001
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His)	rs193922875	0.00001
NM_000540.3(RYR1):c.10336del (p.Ser3446fs)
NM_000540.3(RYR1):c.13667T>C (p.Leu4556Pro)

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