ClinVar Miner

List of variants studied for Catecholaminergic polymorphic ventricular tachycardia 1 by KardioGenetik, Herz- und Diabeteszentrum NRW

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258 0.00014
NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn) rs1695348814 0.00001
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721

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