ClinVar Miner

List of variants in gene RYR1 reported as not provided for TPM3-related myopathy

Included ClinVar conditions (16):

Actin accumulation myopathy; Congenital myopathy with fiber type disproportion; Progressive scapulohumeroperoneal distal myopathy
Arthrogryposis, distal, type 1A; Congenital myopathy 23; Congenital myopathy with fiber type disproportion
Cap myopathy
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 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
Congenital myopathy 4B, autosomal recessive
Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion
Hypertrophic cardiomyopathy 1; Left ventricular noncompaction 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy; MYH7-related disorder
Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy
Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Centronuclear myopathy
TPM3-related myopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)	rs193922855	0.00163
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)	rs147213895	0.00104
NM_000540.3(RYR1):c.6891+3G>T	rs373333757	0.00006
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)	rs367543058	0.00005
NM_000540.3(RYR1):c.3043C>T (p.Arg1015Cys)	rs139006437	0.00004
NM_000540.3(RYR1):c.13069C>A (p.Leu4357Met)	rs1236057233	0.00003
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr)	rs146407179	0.00002
NM_000540.3(RYR1):c.5962G>A (p.Ala1988Thr)	rs763360938	0.00002
NM_000540.3(RYR1):c.1205T>C (p.Met402Thr)	rs118192117
NM_000540.3(RYR1):c.13480G>T (p.Glu4494Ter)	rs143849895
NM_000540.3(RYR1):c.5333C>A (p.Ser1778Ter)	rs367543055
NM_000540.3(RYR1):c.6104A>T (p.His2035Leu)	rs367543056
NM_000540.3(RYR1):c.738T>G (p.Tyr246Ter)	rs367543054
NM_000540.3(RYR1):c.9000+1G>T	rs111364670
NM_000540.3(RYR1):c.9978C>A (p.Asn3326Lys)	rs367543057

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