List of variants in gene LOC129391106, 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.1453A>G (p.Met485Val)	rs147723844	0.00033
NM_000540.3(RYR1):c.1475G>A (p.Arg492His)	rs901087791	0.00007
NM_000540.3(RYR1):c.1479A>C (p.Leu493=)	rs748552245	0.00006
NM_000540.3(RYR1):c.1533C>T (p.Ala511=)	rs758172706	0.00002
NM_000540.3(RYR1):c.1518A>G (p.Ala506=)	rs1488570862	0.00001
NM_000540.3(RYR1):c.1474C>T (p.Arg492Cys)	rs199826952
NM_000540.3(RYR1):c.1561C>T (p.Leu521Phe)	rs750009277

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