ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 133
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001232.4(CASQ2):c.*503G>A rs72554068 0.00381
NM_001035.3(RYR2):c.14703G>C (p.Val4901=) rs201371633 0.00013
NM_001232.3(CASQ2):c.-225G>A rs535999427 0.00011
NM_001035.3(RYR2):c.13957-5C>G rs189772599 0.00010
NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly) rs549476254 0.00009
NM_001035.3(RYR2):c.5756G>A (p.Arg1919Gln) rs199893812 0.00009
NM_006073.4(TRDN):c.1864A>G (p.Ser622Gly) rs577376276 0.00005
NM_000256.3(MYBPC3):c.841C>T (p.Arg281Trp) rs371711564 0.00003
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_006073.4(TRDN):c.1975+5G>T rs899940538 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.3898A>C (p.Met1300Leu) rs769384124 0.00001
NM_001035.3(RYR2):c.8363G>A (p.Arg2788Lys) rs1374332710 0.00001
NM_001232.4(CASQ2):c.205C>G (p.Gln69Glu) rs761862949 0.00001
NM_006073.4(TRDN):c.1018G>A (p.Glu340Lys) rs778821180 0.00001
NC_000001.10:g.(?_236902582)_(237205889_?)dup
NC_000001.10:g.(?_237205702)_(237519285_?)dup
NC_000001.10:g.(?_237205812)_(237205879_?)dup
NC_000001.10:g.(?_237433777)_(237532928_?)del
NC_000001.10:g.(?_237433797)_(237519285_?)dup
NC_000001.10:g.(?_237519255)_(237519295_?)del
NC_000001.10:g.(?_237580329)_(237965236_?)dup
NC_000001.10:g.(?_237580339)_(237995957_?)dup
NC_000001.10:g.(?_237655086)_(237995967_?)dup
NC_000001.10:g.(?_237893550)_(237995957_?)dup
NC_000001.10:g.(?_237941946)_(237995967_?)del
NC_000001.11:g.(?_115701231)_(115744922_?)dup
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.(?_237666502)_(237794007_?)del
NC_000001.11:g.(?_237756278)_(237832657_?)del
NC_000001.11:g.(?_237770797)_(237773658_?)del
NC_000006.11:g.(?_123536484)_(123959238_?)dup
NC_000006.11:g.(?_123539726)_(123957940_?)dup
NC_000006.11:g.(?_123539737)_(123957930_?)dup
NC_000006.11:g.(?_123581598)_(123581802_?)del
NC_000006.11:g.(?_123581747)_(123581793_?)del
NC_000006.11:g.(?_123586443)_(123588916_?)dup
NC_000006.11:g.(?_123818328)_(123825056_?)del
NC_000006.11:g.(?_123851641)_(123851720_?)del
NC_000006.12:g.(?_123260612)_(123260638_?)del
NC_000006.12:g.(?_123337609)_(123439013_?)dup
NC_000006.12:g.(?_123547330)_(123548622_?)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.12519A>G (p.Ile4173Met) rs1553322892
NM_001035.3(RYR2):c.1256T>G (p.Ile419Ser) rs1553454866
NM_001035.3(RYR2):c.12997A>G (p.Asn4333Asp) rs371680410
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.3807+4T>A rs1572996258
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
NM_001232.3(CASQ2):c.-221_-220GT[10] rs72554067
NM_001232.3(CASQ2):c.-221_-220GT[11] rs72554067
NM_001232.3(CASQ2):c.-221_-220GT[12] rs72554067
NM_001232.3(CASQ2):c.-221_-220GT[5] rs72554067
NM_001232.4(CASQ2):c.*1017dup rs11347859
NM_001232.4(CASQ2):c.*1183CTAA[1] rs886045155
NM_001232.4(CASQ2):c.-206_-205dup rs72554067
NM_001232.4(CASQ2):c.-212_-211insATGTGT rs886045162
NM_001232.4(CASQ2):c.-218delinsCGTGCGTGC rs886045163
NM_001232.4(CASQ2):c.-219_-218insCGTGTG rs886045164
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del) rs72554069
NM_006073.4(TRDN):c.*1456CA[3] rs764560250
NM_006073.4(TRDN):c.1052-9C>T rs765883002
NM_006073.4(TRDN):c.109A>T (p.Thr37Ser) rs1554258810
NM_006073.4(TRDN):c.1720G>A (p.Ala574Thr) rs866787639
NM_006073.4(TRDN):c.233-13del rs66509682
NM_006073.4(TRDN):c.233-15_233-13del rs66509682
NM_006073.4(TRDN):c.425-4_425-3insLINE1
NM_006073.4(TRDN):c.932-6C>A rs886061033

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.