ClinVar Miner

List of variants in gene RYR1 reported by Institute of Human Genetics,University of Wuerzburg

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Total variants: 4
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HGVS dbSNP
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.4160+1G>A rs113460156
NM_000540.3(RYR1):c.396C>T (p.Phe132=)

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