ClinVar Miner

List of variants reported as uncertain significance for congenital multicore myopathy with external ophthalmoplegia by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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.2383C>T (p.Arg795Cys)	rs547608972	0.00026
NM_000540.3(RYR1):c.2654G>A (p.Arg885His)	rs370634440	0.00013
NM_000540.3(RYR1):c.11687A>T (p.Asn3896Ile)	rs1555793251
NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del)	rs1438501767

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