List of variants in gene RYR1 reported as likely pathogenic 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.10348-6C>G	rs193922837	0.00010
NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu)	rs368874586	0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)	rs111888148	0.00003
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)	rs146876145	0.00002
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)	rs193922839	0.00001
NM_000540.3(RYR1):c.3362A>G (p.Tyr1121Cys)	rs756138074	0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)	rs193922781	0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)	rs193922809	0.00001
NM_000540.3(RYR1):c.9472+1G>A	rs776697656	0.00001
NM_000540.3(RYR1):c.10347+1G>A	rs111436401
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp)	rs753208767
NM_000540.3(RYR1):c.13882_13896dup (p.Met4628_Phe4632dup)	rs1555801872
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln)	rs118192151

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