ClinVar Miner

List of variants studied for congenital multicore myopathy with external ophthalmoplegia by Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital

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
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.14701G>A (p.Glu4901Lys)	rs764602570	0.00001
NM_000540.3(RYR1):c.6664-2A>G	rs1346257891	0.00001
NM_000540.3(RYR1):c.2505del (p.Pro836fs)	rs797045932

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