ClinVar Miner

List of variants studied for central core myopathy by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)	rs147136339	0.00108
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)	rs146429605	0.00107
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)	rs137932199	0.00073
NM_000540.3(RYR1):c.2687G>A (p.Arg896Gln)	rs147515913	0.00013
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro)	rs764262446	0.00004
NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg)	rs757157750	0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)	rs146876145	0.00002
NM_000540.3(RYR1):c.6445G>A (p.Val2149Met)	rs776830747	0.00001
NM_000540.3(RYR1):c.11120G>A (p.Arg3707His)
NM_000540.3(RYR1):c.13910C>T (p.Thr4637Ile)	rs118192134
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)	rs118192176
NM_000540.3(RYR1):c.7166A>G (p.Asp2389Gly)
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys)	rs1568440962

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