List of variants 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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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.1077T>C (p.Ala359=)	rs10406027	0.90489
NM_000540.3(RYR1):c.1668G>A (p.Ser556=)	rs2288888	0.64200
NM_000540.3(RYR1):c.2286C>T (p.Pro762=)	rs3745847	0.62871
NM_000540.3(RYR1):c.2943G>A (p.Thr981=)	rs2228069	0.60233
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=)	rs2915951	0.33482
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=)	rs2229144	0.33092
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=)	rs2960340	0.33086
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=)	rs2229146	0.32548
NM_000540.3(RYR1):c.8693-10G>C	rs2915958	0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=)	rs2915952	0.32150
NM_000540.3(RYR1):c.7872C>T (p.Arg2624=)	rs1469698	0.17268
NM_000540.3(RYR1):c.9555-13C>T	rs2960328	0.03214
NM_000540.3(RYR1):c.7260C>T (p.His2420=)	rs12973632	0.03031
NM_000540.3(RYR1):c.1577-6C>G	rs61586345	0.02394
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln)	rs55876273	0.01228
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=)	rs80039127	0.00793
NM_000540.3(RYR1):c.906C>T (p.Asp302=)	rs145943283	0.00765
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=)	rs146072491	0.00628
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=)	rs61750975	0.00517
NM_000540.3(RYR1):c.10938-17A>G	rs181147531	0.00513
NM_000540.3(RYR1):c.9414G>A (p.Pro3138=)	rs116130182	0.00478
NM_000540.3(RYR1):c.11034+20G>T	rs186460831	0.00456
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser)	rs35180584	0.00291
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val)	rs34390345	0.00058

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