List of variants in gene RYR1 reported as likely benign 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.13847C>A (p.Ala4616Asp)	rs59468283	0.00132
NM_000540.3(RYR1):c.3505A>C (p.Met1169Leu)	rs139069946	0.00051
NM_000540.3(RYR1):c.12203A>G (p.Lys4068Arg)	rs114009747	0.00043
NM_000540.3(RYR1):c.12847G>A (p.Glu4283Lys)	rs794728692	0.00007
NM_000540.3(RYR1):c.2356G>A (p.Val786Ile)	rs369281291	0.00006
NM_000540.3(RYR1):c.2603G>A (p.Arg868His)	rs750938678	0.00006
NM_000540.3(RYR1):c.4346C>T (p.Ala1449Val)	rs775455157	0.00005
NM_000540.3(RYR1):c.2551G>A (p.Val851Met)	rs375669412	0.00003
NM_000540.3(RYR1):c.13225A>G (p.Ser4409Gly)	rs1211340506	0.00002
NM_000540.3(RYR1):c.4444G>A (p.Val1482Ile)	rs747718728	0.00001
NM_000540.3(RYR1):c.7047C>T (p.Asn2349=)	rs149295336	0.00001
NM_000540.3(RYR1):c.1926C>T (p.Ser642=)	rs2514041361
NM_000540.3(RYR1):c.4269C>T (p.Pro1423=)	rs2229141

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