ClinVar Miner

List of variants in gene RYR2 studied for Arrhythmogenic right ventricular dysplasia, familial, 2; Catecholaminergic polymorphic ventricular tachycardia type 1

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Total variants: 19
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HGVS dbSNP
NM_001035.3(RYR2):c.10361G>A (p.Arg3454His) rs1229045575
NM_001035.3(RYR2):c.1166G>A (p.Arg389His) rs200685968
NM_001035.3(RYR2):c.12541G>A (p.Gly4181Arg) rs775477470
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) rs190140598
NM_001035.3(RYR2):c.13370A>G (p.Lys4457Arg) rs747584325
NM_001035.3(RYR2):c.14048_14049delinsAT (p.Arg4683Asn) rs1558439258
NM_001035.3(RYR2):c.1423A>C (p.Lys475Gln)
NM_001035.3(RYR2):c.1600T>C (p.Tyr534His) rs376007579
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr) rs727504718
NM_001035.3(RYR2):c.2306G>T (p.Arg769Leu) rs754901791
NM_001035.3(RYR2):c.2320C>A (p.Pro774Thr) rs780965490
NM_001035.3(RYR2):c.239A>G (p.Glu80Gly) rs794728706
NM_001035.3(RYR2):c.2755G>A (p.Val919Met) rs201079716
NM_001035.3(RYR2):c.3660T>A (p.Asp1220Glu) rs1019112544
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676
NM_001035.3(RYR2):c.5585A>G (p.Asp1862Gly) rs1559117209
NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met) rs370331492
NM_001035.3(RYR2):c.724G>A (p.Asp242Asn) rs1060499569
NM_001035.3(RYR2):c.8617C>T (p.Pro2873Ser) rs1031049689

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