ClinVar Miner

List of variants studied for Malignant hyperthermia, susceptibility to, 1 by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.2383C>T (p.Arg795Cys) rs547608972 0.00026
NM_000540.3(RYR1):c.10702T>G (p.Ser3568Ala) rs772784769
NM_000540.3(RYR1):c.9643G>A (p.Ala3215Thr) rs745421419
NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del) rs1438501767

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