List of variants in gene combination LOC129391106, RYR1 reported as likely 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.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

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