List of variants in gene RYR1 reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu)	rs73933023	0.00601
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr)	rs148772854	0.00409
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)	rs137933390	0.00282
NM_000540.3(RYR1):c.271-7C>G	rs192495718	0.00197
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)	rs147213895	0.00104
NM_000540.3(RYR1):c.4088C>T (p.Ala1363Val)	rs774603798	0.00084
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)	rs138874610	0.00065
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	rs200563280	0.00013
NM_000540.3(RYR1):c.13548G>C (p.Glu4516Asp)	rs1057520187	0.00001
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)	rs118192181
NM_000540.3(RYR1):c.2575C>T (p.Gln859Ter)	rs1555770968

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