List of variants in gene RYR1 reported as pathogenic for Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.10348-6C>G	rs193922837	0.00010
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	rs121918593	0.00006
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	rs118192173	0.00005
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)	rs118192140	0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)	rs118192177	0.00004
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)	rs146876145	0.00002
NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys)	rs193922768	0.00001
NM_000540.3(RYR1):c.4225C>T (p.Arg1409Ter)	rs587784376	0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)	rs118192122	0.00001
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter)	rs1365856881	0.00001
NM_000540.3(RYR1):c.10347+1G>A	rs111436401
NM_000540.3(RYR1):c.14804G>A (p.Gly4935Asp)
NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter)	rs878854365
NM_000540.3(RYR1):c.4837C>T (p.Gln1613Ter)	rs1332371891
NM_000540.3(RYR1):c.718C>T (p.Gln240Ter)

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