List of variants in gene combination LOC130064357, RYR1 reported as uncertain significance 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.13313T>G (p.Val4438Gly)	rs1328605630	0.00002
NM_000540.3(RYR1):c.13279C>T (p.His4427Tyr)	rs1973378079
NM_000540.3(RYR1):c.13331_13351dup (p.Gly4444_Gly4450dup)	rs1358102336
NM_000540.3(RYR1):c.13342C>T (p.Pro4448Ser)	rs886054407

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