ClinVar Miner

List of variants in gene RYR1 reported as pathogenic by Baylor Miraca Genetics Laboratories,

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Gene type:
ClinVar version:
Total variants: 4
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NM_000540.2(RYR1):c.14126C>T (p.Thr4709Met) rs118192140
NM_000540.2(RYR1):c.208C>T (p.Gln70Ter) rs1456276440
NM_000540.2(RYR1):c.6721C>T rs200563280
NM_000540.2(RYR1):c.7215del (p.Phe2406fs) rs1568501473

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