List of variants in gene combination LOC126862902, 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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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.8450T>C (p.Ile2817Thr)	rs369194674	0.00006
NM_000540.3(RYR1):c.8516C>T (p.Thr2839Met)	rs781458272	0.00006
NM_000540.3(RYR1):c.8330A>T (p.Tyr2777Phe)	rs769276412	0.00003
NM_000540.3(RYR1):c.8377C>T (p.Pro2793Ser)	rs369040621	0.00001
NM_000540.3(RYR1):c.8518C>T (p.Arg2840Trp)	rs193922830	0.00001
NM_000540.3(RYR1):c.8488GAG[2] (p.Glu2832del)	rs767722812

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