ClinVar Miner

List of variants in gene RYR1 reported by Center of Genomic medicine, Geneva, University Hospital of Geneva

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.3224G>A (p.Arg1075Gln)	rs749040743	0.00001
NM_000540.3(RYR1):c.10620C>G (p.Tyr3540Ter)	rs758247804
NM_000540.3(RYR1):c.7856T>C (p.Leu2619Pro)	rs1263237391

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