ClinVar Miner

List of variants studied for Central core myopathy by MVZ Medizinische Genetik Mainz

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.1837G>C (p.Val613Leu)	rs1169815000	0.00001
NM_000540.3(RYR1):c.13363G>A (p.Gly4455Arg)	rs2514681962
NM_000540.3(RYR1):c.2812G>T (p.Val938Leu)	rs369182023
NM_000540.3(RYR1):c.3391T>G (p.Trp1131Gly)

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