ClinVar Miner

List of variants in gene RYR1 studied for Elevated circulating creatine kinase concentration; Dystonic disorder; Global developmental delay; Abnormal female external genitalia morphology; Oculomotor apraxia; Orofacial dyskinesia; Abnormal globus pallidus morphology; Involuntary movements; Hypoplastic female external genitalia; Rhabdomyolysis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.1312G>C (p.Glu438Gln)	rs765668209

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