ClinVar Miner

List of variants studied for Central core myopathy by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_000540.3(RYR1):c.13672C>T (p.Arg4558Trp) rs771741606 0.00001
NM_000540.3(RYR1):c.11193+1G>A
NM_000540.3(RYR1):c.14364+1G>A rs1974046221
NM_000540.3(RYR1):c.1441-2A>G
NM_000540.3(RYR1):c.14490dup (p.Val4831fs) rs2145895408
NM_000540.3(RYR1):c.1999dup (p.Val667fs)
NM_000540.3(RYR1):c.2290C>T (p.Gln764Ter) rs371455345
NM_000540.3(RYR1):c.2578-2A>G
NM_000540.3(RYR1):c.3364del (p.Val1122fs)
NM_000540.3(RYR1):c.7968C>A (p.Cys2656Ter)

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