List of variants in gene RYR2 reported by Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val)	rs72549415	0.00737
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)	rs571985775	0.00028
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)	rs564806219	0.00018
NM_001035.3(RYR2):c.2630A>C (p.His877Pro)	rs561321743	0.00011
NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln)	rs752144775	0.00008
NM_001035.3(RYR2):c.10640C>T (p.Thr3547Met)	rs552050895	0.00004
NM_001035.3(RYR2):c.13672C>T (p.His4558Tyr)	rs773264033	0.00003
NM_001035.3(RYR2):c.1601A>G (p.Tyr534Cys)	rs1572409976
NM_001035.3(RYR2):c.2434A>C (p.Lys812Gln)	rs1572625235
NM_001035.3(RYR2):c.49G>T (p.Asp17Tyr)	rs370488091
NM_001035.3(RYR2):c.7774T>G (p.Leu2592Val)	rs761019645
NM_001035.3(RYR2):c.8573TGGAGT[1] (p.Leu2860_Glu2861del)	rs794728835

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