ClinVar Miner

List of variants in gene RYR2 reported as uncertain significance for Catecholaminergic polymorphic ventricular tachycardia

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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.14703G>C (p.Val4901=) rs201371633 0.00013
NM_001035.3(RYR2):c.13957-5C>G rs189772599 0.00010
NM_001035.3(RYR2):c.5756G>A (p.Arg1919Gln) rs199893812 0.00009
NM_001035.3(RYR2):c.6232C>T (p.Pro2078Ser) rs780993255 0.00003
NM_001035.3(RYR2):c.11039+7T>C rs569571855 0.00002
NM_001035.3(RYR2):c.9085A>G (p.Ile3029Val) rs370141970 0.00002
NM_001035.3(RYR2):c.10844G>A (p.Arg3615Gln) rs879255349 0.00001
NM_001035.3(RYR2):c.12083C>T (p.Ser4028Leu) rs779666612 0.00001
NM_001035.3(RYR2):c.12333C>T (p.Asn4111=) rs748716535 0.00001
NM_001035.3(RYR2):c.2101G>A (p.Glu701Lys) rs748762074 0.00001
NM_001035.3(RYR2):c.2287G>A (p.Ala763Thr) rs1306256963 0.00001
NM_001035.3(RYR2):c.8363G>A (p.Arg2788Lys) rs1374332710 0.00001
NC_000001.10:g.(?_237205812)_(237205879_?)dup
NC_000001.10:g.(?_237433777)_(237532928_?)del
NC_000001.10:g.(?_237519255)_(237519295_?)del
NC_000001.10:g.(?_237580339)_(237995957_?)dup
NC_000001.10:g.(?_237941946)_(237995967_?)del
NC_000001.11:g.(?_237042512)_(237355995_?)dup
NC_000001.11:g.(?_237270487)_(237377445_?)dup
NC_000001.11:g.(?_237417039)_(237801926_?)dup
NC_000001.11:g.(?_237756278)_(237832657_?)del
NC_000001.11:g.(?_237770797)_(237773658_?)del
NM_001035.3(RYR2):c.*1023G>T rs886046304
NM_001035.3(RYR2):c.*1065A>G rs886046305
NM_001035.3(RYR2):c.*1070G>T rs886046306
NM_001035.3(RYR2):c.*167_*168dup rs886046284
NM_001035.3(RYR2):c.*187C>A rs886046285
NM_001035.3(RYR2):c.*206C>A rs886046286
NM_001035.3(RYR2):c.*272C>A rs886046287
NM_001035.3(RYR2):c.*354A>G rs886046289
NM_001035.3(RYR2):c.*378C>A rs886046290
NM_001035.3(RYR2):c.*578del rs113047070
NM_001035.3(RYR2):c.*578dup rs113047070
NM_001035.3(RYR2):c.*642A>C rs886046297
NM_001035.3(RYR2):c.*646dup rs377407067
NM_001035.3(RYR2):c.*715_*716insGC rs886046302
NM_001035.3(RYR2):c.*716del rs397983403
NM_001035.3(RYR2):c.*716dup rs397983403
NM_001035.3(RYR2):c.*717GCCCCC[1] rs886046299
NM_001035.3(RYR2):c.*79C>A rs886046282
NM_001035.3(RYR2):c.*84del rs764277833
NM_001035.3(RYR2):c.-20C>A rs778527185
NM_001035.3(RYR2):c.-27C>A rs886046260
NM_001035.3(RYR2):c.10255T>C (p.Phe3419Leu) rs1405655091
NM_001035.3(RYR2):c.10323+13dup rs886046276
NM_001035.3(RYR2):c.10894GAA[1] (p.Glu3633del) rs1690562656
NM_001035.3(RYR2):c.11180A>G (p.Gln3727Arg) rs1692948853
NM_001035.3(RYR2):c.11189G>A (p.Arg3730Gln) rs1060500157
NM_001035.3(RYR2):c.11236G>C (p.Ala3746Pro) rs1692954476
NM_001035.3(RYR2):c.1153G>T (p.Gly385Ter) rs1553453398
NM_001035.3(RYR2):c.11639G>C (p.Arg3880Thr) rs766515965
NM_001035.3(RYR2):c.11754C>A (p.Asn3918Lys) rs886046278
NM_001035.3(RYR2):c.12280A>G (p.Ile4094Val) rs1573933519
NM_001035.3(RYR2):c.12289A>G (p.Asn4097Asp) rs1695343403
NM_001035.3(RYR2):c.12322C>G (p.His4108Asp) rs1250457347
NM_001035.3(RYR2):c.1256T>G (p.Ile419Ser) rs1553454866
NM_001035.3(RYR2):c.13729A>G (p.Ile4577Val) rs1658467547
NM_001035.3(RYR2):c.1372G>A (p.Asp458Asn) rs1553458124
NM_001035.3(RYR2):c.14122T>G (p.Trp4708Gly) rs397516513
NM_001035.3(RYR2):c.14161T>C (p.Tyr4721His) rs1660612706
NM_001035.3(RYR2):c.1502G>A (p.Cys501Tyr) rs1558850485
NM_001035.3(RYR2):c.2204-10C>A rs886046264
NM_001035.3(RYR2):c.2948T>G (p.Leu983Arg) rs1670048479
NM_001035.3(RYR2):c.3265C>T (p.Arg1089Cys) rs879255350
NM_001035.3(RYR2):c.4183C>G (p.Pro1395Ala) rs1553515418
NM_001035.3(RYR2):c.4430A>C (p.His1477Pro) rs1461139776
NM_001035.3(RYR2):c.4747_4748insT (p.Pro1583fs) rs1677768338
NM_001035.3(RYR2):c.4920C>A (p.Asp1640Glu) rs886046267
NM_001035.3(RYR2):c.4941G>A (p.Gln1647=) rs727504997
NM_001035.3(RYR2):c.4972C>T (p.Leu1658Phe) rs767540663
NM_001035.3(RYR2):c.5078A>G (p.Tyr1693Cys) rs886046268
NM_001035.3(RYR2):c.5315G>A (p.Ser1772Asn) rs1559116458
NM_001035.3(RYR2):c.570G>T (p.Arg190Ser) rs397516544
NM_001035.3(RYR2):c.6192G>T (p.Glu2064Asp) rs1679843736
NM_001035.3(RYR2):c.6475C>T (p.Pro2159Ser) rs1573222038
NM_001035.3(RYR2):c.6532G>A (p.Val2178Ile) rs794728821
NM_001035.3(RYR2):c.7156A>G (p.Asn2386Asp) rs1553264670
NM_001035.3(RYR2):c.7390C>G (p.His2464Asp) rs1682397546
NM_001035.3(RYR2):c.7533del (p.Asp2511fs) rs1553268185
NM_001035.3(RYR2):c.7585A>T (p.Thr2529Ser) rs1682562289
NM_001035.3(RYR2):c.8591-4T>G rs1553277202
NM_001035.3(RYR2):c.907G>A (p.Gly303Arg) rs1705766226
NM_001035.3(RYR2):c.9578C>G (p.Ala3193Gly) rs1412111895

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