List of variants in gene RYR1 reported as pathogenic by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	rs200563280	0.00013
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	rs121918593	0.00006
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)	rs118192168	0.00001
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)	rs112563513	0.00001
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)	rs193922868
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)	rs28933396

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