ClinVar Miner

List of variants in gene RYR1 studied for Malignant hypothermia

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Total variants: 14
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HGVS dbSNP
NM_000540.2(RYR1):c.10730G>A (p.Arg3577Gln) rs372914229
NM_000540.2(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273
NM_000540.2(RYR1):c.11061_11063delGGA rs760784102
NM_000540.2(RYR1):c.11321C>T (p.Ala3774Val) rs146361173
NM_000540.2(RYR1):c.13505A>G (p.Glu4502Gly) rs139647387
NM_000540.2(RYR1):c.13691G>A (p.Arg4564Gln) rs864309559
NM_000540.2(RYR1):c.2366G>A (p.Arg789Gln) rs200069592
NM_000540.2(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615
NM_000540.2(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950
NM_000540.2(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920
NM_000540.2(RYR1):c.6052G>C (p.Glu2018Gln) rs879255343
NM_000540.2(RYR1):c.725+6G>A rs201679831
NM_000540.2(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584
NM_000540.2(RYR1):c.9262G>A (p.Val3088Met) rs145044872

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