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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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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
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr)	rs767805554	0.00007
NM_000540.3(RYR1):c.8450T>C (p.Ile2817Thr)	rs369194674	0.00006
NM_000540.3(RYR1):c.8516C>T (p.Thr2839Met)	rs781458272	0.00006
NM_000540.3(RYR1):c.8330A>T (p.Tyr2777Phe)	rs769276412	0.00003
NM_000540.3(RYR1):c.8377C>T (p.Pro2793Ser)	rs369040621	0.00001
NM_000540.3(RYR1):c.8518C>T (p.Arg2840Trp)	rs193922830	0.00001
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs)	rs758580075
NM_000540.3(RYR1):c.8488GAG[2] (p.Glu2832del)	rs767722812

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