List of variants reported as pathogenic for Central core myopathy by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)	rs146876145	0.00002
NM_000540.3(RYR1):c.13910C>T (p.Thr4637Ile)	rs118192134
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)	rs118192176
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys)	rs1568440962

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