ClinVar Miner

List of variants studied for malignant hyperthermia, susceptibility to, 1 by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (11):

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
Malignant hyperthermia, susceptibility to
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Centronuclear myopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.11518G>A (p.Val3840Ile)	rs140616359	0.00008
NM_000540.3(RYR1):c.251C>T (p.Thr84Met)	rs186983396	0.00004
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.7036G>A (p.Val2346Met)	rs193922799	0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys)	rs193922816	0.00001
NM_000540.3(RYR1):c.11444T>C (p.Met3815Thr)
NM_000540.3(RYR1):c.13667T>C (p.Leu4556Pro)
NM_000540.3(RYR1):c.14138C>T (p.Pro4713Leu)
NM_000540.3(RYR1):c.14421CTT[2] (p.Phe4810del)	rs1555803810
NM_000540.3(RYR1):c.742G>C (p.Gly248Arg)	rs1801086
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)	rs118192178
NM_000540.3(RYR1):c.7801G>A (p.Asp2601Asn)

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