ClinVar Miner

List of variants in gene RYR1 reported by Center for Genetic Medicine Research,Children's National Medical Center

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Total variants: 5
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HGVS dbSNP
NM_000540.2(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058
NM_000540.2(RYR1):c.1438G>A (p.Glu480Lys) rs878854375
NM_000540.2(RYR1):c.7244G>A (p.Arg2415Gln) rs201584482
NM_000540.2(RYR1):c.[14524G>A];[2029C>T]
NM_000540.2(RYR1):c.[14645C>T];[6721C>T]

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