ClinVar Miner

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

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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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