ClinVar Miner

List of variants in gene CACNA1S studied for Malignant hyperthermia

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Total variants: 7
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HGVS dbSNP
NM_000069.3(CACNA1S):c.1193T>A (p.Leu398Gln) rs879255337
NM_000069.3(CACNA1S):c.2047C>T (p.Arg683Cys) rs35708442
NM_000069.3(CACNA1S):c.3686G>C (p.Arg1229Pro) rs774416016
NM_000069.3(CACNA1S):c.5417T>C (p.Phe1806Ser) rs1553247334
NM_000069.3(CACNA1S):c.5489C>G (p.Thr1830Arg) rs1553247295
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169
NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr) rs527702358

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