List of variants in gene combination LOC126862902, RYR1 reported as uncertain significance by Ambry Genetics

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.8347G>A (p.Glu2783Lys)	rs761023180	0.00001
NM_000540.3(RYR1):c.8497A>G (p.Lys2833Glu)	rs777147998	0.00001
NM_000540.3(RYR1):c.8396A>G (p.Glu2799Gly)
NM_000540.3(RYR1):c.8446A>G (p.Met2816Val)	rs775492883
NM_000540.3(RYR1):c.8474A>G (p.Lys2825Arg)	rs930504916
NM_000540.3(RYR1):c.8539C>G (p.Gln2847Glu)	rs1357730526
NM_000540.3(RYR1):c.8615A>G (p.Gln2872Arg)	rs2514366206

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