List of variants reported as pathogenic for Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	rs200563280	0.00013
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	rs118192172	0.00011
NM_000540.3(RYR1):c.10348-6C>G	rs193922837	0.00010
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	rs118192173	0.00005
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)	rs752199191	0.00003
NM_000540.3(RYR1):c.14130-2A>G	rs1457662393	0.00001
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)	rs1305971341	0.00001
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter)	rs1365856881	0.00001
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs)	rs1419938249
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu)	rs193922772
NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter)	rs878854365
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)	rs1456276440
NM_000540.3(RYR1):c.6806dup (p.Ser2270fs)	rs886041380
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs)	rs758580075

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