List of variants in gene RYR1 reported as likely benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=)	rs193922854	0.00873
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=)	rs118126378	0.00334
NM_000540.3(RYR1):c.9555-9G>A	rs149569999	0.00180
NM_000540.3(RYR1):c.2919C>T (p.His973=)	rs139363830	0.00140
NM_000540.3(RYR1):c.725+6G>A	rs201679831	0.00111
NM_000540.3(RYR1):c.10119G>A (p.Val3373=)	rs140689610	0.00079
NM_000540.3(RYR1):c.5364T>G (p.Ala1788=)	rs200950362	0.00073
NM_000540.3(RYR1):c.2091C>T (p.Ala697=)	rs138704724	0.00057
NM_000540.3(RYR1):c.7830C>T (p.Leu2610=)	rs140063541	0.00046
NM_000540.3(RYR1):c.13190C>G (p.Ala4397Gly)	rs1057520588	0.00008
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)	rs150396398
NM_000540.3(RYR1):c.2501G>A (p.Arg834Gln)	rs1314923827

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