List of variants in gene RYR1 reported as likely pathogenic by Athena Diagnostics

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)	rs752199191	0.00003
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro)	rs756870293	0.00001
NM_000540.3(RYR1):c.10627-1G>C	rs1568539909
NM_000540.3(RYR1):c.12094+2T>C
NM_000540.3(RYR1):c.7879G>A (p.Val2627Met)	rs914804033

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