List of variants in gene RYR1 reported as pathogenic for Abnormality of the musculature

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro)	rs756870293	0.00001
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp)	rs886039586
NM_000540.3(RYR1):c.9851G>A (p.Trp3284Ter)	rs2145682223

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