ClinVar Miner

List of variants reported as likely pathogenic for Central core myopathy by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His) rs774242947
NM_000540.3(RYR1):c.12623A>G (p.Gln4208Arg)
NM_000540.3(RYR1):c.14228G>T (p.Gly4743Val)
NM_000540.3(RYR1):c.2633A>G (p.His878Arg) rs2514074117
NM_000540.3(RYR1):c.7282G>T (p.Ala2428Ser) rs193922809

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