ClinVar Miner

List of variants in gene RYR2 reported by Agnes Ginges Centre for Molecular Cardiology, Centenary Institute

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.14655+22T>C rs147311361 0.00608
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001035.3(RYR2):c.3460C>T (p.Arg1154Cys) rs765617616 0.00003
NM_001035.3(RYR2):c.2360T>G (p.Leu787Arg) rs1251442610 0.00002
NM_001035.3(RYR2):c.8414G>A (p.Arg2805His) rs1247067433 0.00001
NM_001035.3(RYR2):c.848+1G>A rs772984053 0.00001
NM_001035.3(RYR2):c.8968C>T (p.Leu2990Phe) rs746439954 0.00001
NM_001035.3(RYR2):c.11146G>A (p.Glu3716Lys) rs1573821155
NM_001035.3(RYR2):c.11180A>G (p.Gln3727Arg) rs1692948853
NM_001035.3(RYR2):c.11217G>A (p.Met3739Ile) rs397516502
NM_001035.3(RYR2):c.14122T>G (p.Trp4708Gly) rs397516513
NM_001035.3(RYR2):c.4235A>G (p.Asp1412Gly) rs1553515461
NM_001035.3(RYR2):c.4452C>A (p.Asn1484Lys) rs1291160405
NM_001035.3(RYR2):c.7382G>A (p.Cys2461Tyr) rs373193260
NM_001035.3(RYR2):c.8794T>C (p.Tyr2932His) rs1573466838

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