ClinVar Miner

List of variants in gene combination LOC126806068, RYR2 reported as pathogenic for Catecholaminergic polymorphic ventricular tachycardia 1

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.12424G>A (p.Ala4142Thr) rs761834154
NM_001035.3(RYR2):c.12446A>G (p.Tyr4149Cys) rs1234449785
NM_001035.3(RYR2):c.12464C>A (p.Ser4155Tyr) rs2149353940
NM_001035.3(RYR2):c.12470G>A (p.Arg4157Gln) rs794728786
NM_001035.3(RYR2):c.12475C>A (p.Gln4159Lys)
NM_001035.3(RYR2):c.12477G>T (p.Gln4159His) rs1558405653
NM_001035.3(RYR2):c.12521T>A (p.Phe4174Tyr)
NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser) rs794728787
NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg) rs121918605
NM_001035.3(RYR2):c.12603G>T (p.Gln4201His) rs2149354441

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