List of variants in gene RYR1 reported as likely pathogenic by Neuberg Centre For Genomic Medicine, NCGM

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val)	rs193922791	0.00002
NM_000540.3(RYR1):c.12590_12591del (p.Ile4196_Ser4197insTer)
NM_000540.3(RYR1):c.2065G>T (p.Glu689Ter)
NM_000540.3(RYR1):c.8953C>T (p.Arg2985Ter)

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