List of variants reported as likely 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: 28

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)	rs377178986	0.00004
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs)	rs779723153	0.00004
NM_000540.3(RYR1):c.14173-2A>G	rs1189024951	0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)	rs146876145	0.00002
NM_000540.3(RYR1):c.4674dup (p.Asn1559fs)	rs759632485	0.00002
NM_000540.3(RYR1):c.11590+1G>T	rs113928116	0.00001
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs)	rs928989953	0.00001
NM_000540.3(RYR1):c.14129+1G>A	rs142929172	0.00001
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)	rs1432807966	0.00001
NM_000540.3(RYR1):c.4160+1G>A	rs113460156	0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)	rs193922781	0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)	rs118192174	0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)	rs193922809	0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)	rs28933397	0.00001
NM_000540.3(RYR1):c.9472+1G>A	rs776697656	0.00001
NM_000540.3(RYR1):c.12319del (p.Ile4107fs)	rs754572007
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)	rs772494345
NM_000540.3(RYR1):c.12978del (p.Glu4327fs)	rs1568582893
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)	rs193922868
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)	rs118192150
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)	rs1064794572
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)	rs1440262870
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs)	rs1281542312
NM_000540.3(RYR1):c.7835+1G>A	rs1057524858
NM_000540.3(RYR1):c.7836-1G>A	rs1568507354
NM_000540.3(RYR1):c.7954dup (p.Trp2652fs)	rs1600842678
NM_000540.3(RYR1):c.8196del (p.Gly2733fs)	rs1600844997
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG	rs1555786205

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