ClinVar Miner

List of variants in gene RYR1 studied for Malignant hyperthermia

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Total variants: 12
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HGVS dbSNP
NM_000540.2(RYR1):c.12532G>A (p.Gly4178Ser) rs1057518885
NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) rs193922854
NM_000540.2(RYR1):c.13513G>C (p.Asp4505His) rs150396398
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.1597C>A (p.Arg533Ser) rs193922768
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
NM_000540.2(RYR1):c.5036G>A (p.Arg1679His) rs146504767

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