List of variants in gene RYR1 reported as uncertain significance by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)	rs143987857	0.00166
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val)	rs34390345	0.00058
NM_000540.3(RYR1):c.2320G>A (p.Gly774Arg)	rs147918857	0.00019
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=)	rs149185729	0.00016
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)	rs147320363	0.00014
NM_000540.3(RYR1):c.821G>C (p.Arg274Pro)	rs368711923	0.00003
NM_000540.3(RYR1):c.11302C>T (p.Arg3768Trp)	rs910313832	0.00002
NM_000540.3(RYR1):c.10681G>A (p.Gly3561Arg)	rs771320029	0.00001
NM_000540.3(RYR1):c.1196C>T (p.Ala399Val)	rs1443878514

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