List of variants in gene RYR1 reported as likely pathogenic by Juno Genomics, Hangzhou Juno Genomics, Inc

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)	rs111888148	0.00003
NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln)	rs148399313	0.00001
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His)	rs193922875	0.00001
NM_000540.3(RYR1):c.7036G>A (p.Val2346Met)	rs193922799	0.00001
NM_000540.3(RYR1):c.10336del (p.Ser3446fs)
NM_000540.3(RYR1):c.13667T>C (p.Leu4556Pro)
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del)	rs121918596
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)	rs118192178

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