List of variants in gene RYR1 reported as uncertain significance by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser)	rs76537615	0.00586
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)	rs143987857	0.00171
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)	rs144157950	0.00165
NM_000540.3(RYR1):c.725+6G>A	rs201679831	0.00111
NM_000540.3(RYR1):c.11321C>T (p.Ala3774Val)	rs146361173	0.00061
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met)	rs145044872	0.00046
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln)	rs200069592	0.00011
NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly)	rs139647387	0.00003
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln)	rs864309559	0.00003
NM_000540.3(RYR1):c.10730G>A (p.Arg3577Gln)	rs372914229	0.00001
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del)	rs760784102
NM_000540.3(RYR1):c.6052G>C (p.Glu2018Gln)	rs879255343

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