ClinVar Miner

List of variants studied for Central core myopathy by Department of Pathophysiology and Transplantation, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu) rs368874586 0.00003
NM_000540.2(RYR1):c.[14344G>A;14928C>G]
NM_000540.3(RYR1):c.3485C>T (p.Thr1162Ile) rs1280346095

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