List of variants in gene combination LOC126862902, RYR1 reported as benign for Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome

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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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=)	rs2229146	0.32548
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=)	rs2915952	0.32150
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser)	rs35180584	0.00291

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