ClinVar Miner

List of variants in gene RYR1 reported as uncertain significance for Malignant hyperthermia

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Total variants: 8
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HGVS dbSNP
NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) rs193922854
NM_000540.2(RYR1):c.1453A>G (p.Met485Val) rs147723844
NM_000540.2(RYR1):c.14928C>G (p.Phe4976Leu) rs368874586
NM_000540.2(RYR1):c.15088C>T (p.Arg5030Cys) rs374070555
NM_000540.2(RYR1):c.2320G>A (p.Gly774Arg) rs147918857
NM_000540.2(RYR1):c.4006C>A (p.Arg1336Ser) rs755911690
NM_000540.2(RYR1):c.4088C>G (p.Ala1363Gly) rs774603798
NM_000540.2(RYR1):c.4424T>C (p.Met1475Thr) rs779963151

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