List of variants in gene RYR1 reported as uncertain significance by Pediatric Department, Peking University First Hospital

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.12324G>C (p.Gln4108His)	rs762061959	0.00004
NM_000540.3(RYR1):c.12739_12750del (p.Ala4247_Ile4250del)	rs2145843330
NM_000540.3(RYR1):c.13762C>T (p.Pro4588Ser)	rs2145869414

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