List of variants in gene RYR2 reported by Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)	rs564806219	0.00018
NM_001035.3(RYR2):c.12241G>A (p.Glu4081Lys)	rs763004638	0.00003
NM_001035.3(RYR2):c.10987C>T (p.Pro3663Ser)	rs1299197961	0.00001
NM_001035.3(RYR2):c.10993C>T (p.His3665Tyr)	rs1374577335
NM_001035.3(RYR2):c.13994G>A (p.Arg4665Lys)	rs1299849256
NM_001035.3(RYR2):c.14020A>G (p.Lys4674Glu)	rs2149404327
NM_001035.3(RYR2):c.4459A>C (p.Met1487Leu)	rs1278512393
NM_001035.3(RYR2):c.4867G>T (p.Asp1623Tyr)	rs1194621692
NM_001035.3(RYR2):c.5288T>G (p.Phe1763Cys)	rs1057518518
NM_001035.3(RYR2):c.6314C>T (p.Thr2105Ile)	rs2148667252
NM_001035.3(RYR2):c.7093A>G (p.Asn2365Asp)	rs2148728656
NM_001035.3(RYR2):c.7859A>G (p.Tyr2620Cys)	rs1683039143
NM_001035.3(RYR2):c.8048C>T (p.Ser2683Leu)	rs776621043
NM_001035.3(RYR2):c.8390G>A (p.Ser2797Asn)	rs2148846582

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