ClinVar Miner

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

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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_006073.4(TRDN):c.1864A>G (p.Ser622Gly) rs577376276 0.00005
NM_006073.4(TRDN):c.1975+5G>T rs899940538 0.00002
NM_001035.3(RYR2):c.2287G>A (p.Ala763Thr) rs1306256963 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.10255T>C (p.Phe3419Leu) rs1405655091
NM_001035.3(RYR2):c.10894GAA[1] (p.Glu3633del) rs1690562656
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.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.14161T>C (p.Tyr4721His) rs1660612706
NM_001035.3(RYR2):c.1502G>A (p.Cys501Tyr) rs1558850485
NM_001035.3(RYR2):c.2948T>G (p.Leu983Arg) rs1670048479
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.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_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.425-4_425-3insLINE1

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