ClinVar Miner

List of variants studied for Catecholaminergic polymorphic ventricular tachycardia 1 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.1249C>G (p.Arg417Gly) rs564822776 0.00004
NM_001035.3(RYR2):c.1031_1035del (p.Lys344fs) rs2150146622
NM_001035.3(RYR2):c.6202C>T (p.Arg2068Ter) rs1679845277

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