List of variants in gene RYR1 reported as not provided for Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia

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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.14918C>T (p.Pro4973Leu)	rs146876145	0.00002
NM_000540.3(RYR1):c.3145G>A (p.Gly1049Ser)	rs990842315	0.00001
NM_000540.3(RYR1):c.3719G>T (p.Gly1240Val)	rs1374486975	0.00001

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