List of variants in gene RYR1 reported as pathogenic by Color Diagnostics, LLC DBA Color Health

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	rs118192172	0.00011
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	rs121918593	0.00006
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)	rs118192177	0.00004
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys)	rs193922764	0.00002
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)	rs193922803	0.00002
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)	rs118192168	0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)	rs118192122	0.00001
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg)	rs121918592
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)	rs193922868

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