List of variants studied for congenital multicore myopathy with external ophthalmoplegia by Baylor Genetics

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Total variants: 11

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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.14126C>T (p.Thr4709Met)	rs118192140	0.00004
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg)	rs761224660	0.00003
NM_000540.3(RYR1):c.13334C>G (p.Pro4445Arg)	rs905232339	0.00001
NM_000540.3(RYR1):c.13022C>G (p.Thr4341Arg)	rs752855919
NM_000540.3(RYR1):c.13027G>A (p.Ala4343Thr)	rs1204041410
NM_000540.3(RYR1):c.177dup (p.Asp60fs)	rs756326114
NM_000540.3(RYR1):c.487C>A (p.Arg163Ser)	rs118192161
NM_000540.3(RYR1):c.7215del (p.Phe2406fs)	rs1568501473
NM_000540.3(RYR1):c.7522C>A (p.Arg2508Ser)
NM_000540.3(RYR1):c.8382C>G (p.Tyr2794Ter)	rs146514343

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