ClinVar Miner

List of variants in gene RYR1 reported by Institute of Human Genetics, University Hospital Muenster

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	rs200546266	0.00010
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)	rs118192158	0.00001
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)	rs1064794572

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