ClinVar Miner

List of variants in gene RYR1 reported as uncertain significance for Elevated serum creatine phosphokinase; Dystonia; Global developmental delay; Abnormality of female external genitalia; Oculomotor apraxia; Orofacial dyskinesia; Abnormality of the globus pallidus; Involuntary movements; Hypoplastic female external genitalia; Rhabdomyolysis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_000540.2(RYR1):c.1312G>C (p.Glu438Gln)

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