List of variants in gene RYR1 reported by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp)	rs536304635	0.00008
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys)	rs199870223	0.00007
NM_000540.3(RYR1):c.7036G>A (p.Val2346Met)	rs193922799	0.00001
NM_000540.3(RYR1):c.13213G>A (p.Gly4405Ser)
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)	rs118192181
NM_000540.3(RYR1):c.2335G>A (p.Val779Ile)

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