ClinVar Miner

List of variants studied for Catecholaminergic polymorphic ventricular tachycardia 1 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala) rs776046135 0.00009
NM_001035.3(RYR2):c.10209dup (p.Ile3404fs) rs1688657241
NM_001035.3(RYR2):c.12365_12367del (p.Ala4122del) rs1695350400
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp) rs794728799
NM_001035.3(RYR2):c.14482G>A (p.Gly4828Arg) rs1402571360
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.1709-15T>A rs1663379209
NM_001035.3(RYR2):c.3023C>T (p.Ala1008Val) rs1232224119
NM_001035.3(RYR2):c.9129G>T (p.Arg3043Ser) rs1687847434

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