ClinVar Miner

List of variants studied for Catecholaminergic polymorphic ventricular tachycardia 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys) rs202040519 0.00020
NM_001035.3(RYR2):c.9067+10C>T rs372631657 0.00010
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln) rs727503404 0.00009
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) rs190140598 0.00001
NM_001035.3(RYR2):c.226C>T (p.Arg76Trp) rs542777295 0.00001
NM_001035.3(RYR2):c.6430C>T (p.Arg2144Cys) rs770847446 0.00001
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser) rs1401116572
NM_001035.3(RYR2):c.11863C>A (p.Gln3955Lys)
NM_001035.3(RYR2):c.12313C>T (p.Leu4105Phe)
NM_001035.3(RYR2):c.12340C>G (p.Arg4114Gly)
NM_001035.3(RYR2):c.1244C>T (p.Thr415Ile)
NM_001035.3(RYR2):c.12457A>C (p.Ser4153Arg)
NM_001035.3(RYR2):c.12608C>T (p.Ala4203Val) rs794728792
NM_001035.3(RYR2):c.13273A>G (p.Lys4425Glu) rs2149359920
NM_001035.3(RYR2):c.13735C>T (p.His4579Tyr) rs794728830
NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln) rs1553328170
NM_001035.3(RYR2):c.139T>C (p.Cys47Arg)
NM_001035.3(RYR2):c.14174A>G (p.Tyr4725Cys) rs2149437479
NM_001035.3(RYR2):c.14297A>C (p.Gln4766Pro)
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile) rs794728804
NM_001035.3(RYR2):c.14569A>G (p.Ile4857Val) rs1085307524
NM_001035.3(RYR2):c.14722C>A (p.His4908Asn)
NM_001035.3(RYR2):c.2747C>T (p.Pro916Leu)
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln) rs397516539
NM_001035.3(RYR2):c.6982C>T (p.Pro2328Ser) rs121918603
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val) rs794728754
NM_001035.3(RYR2):c.7175A>G (p.Tyr2392Cys)
NM_001035.3(RYR2):c.7897G>A (p.Ala2633Thr) rs1683042825

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