ClinVar Miner

List of variants in gene SCN5A reported as not provided for Brugada syndrome

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 213
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037 0.00068
NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu) rs199473320 0.00041
NM_000335.5(SCN5A):c.694G>A (p.Val232Ile) rs45471994 0.00041
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733 0.00019
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn) rs199473599 0.00009
NM_000335.5(SCN5A):c.5035G>A (p.Ala1679Thr) rs199473294 0.00009
NM_000335.5(SCN5A):c.1855C>T (p.Leu619Phe) rs199473133 0.00006
NM_000335.5(SCN5A):c.955G>A (p.Gly319Ser) rs199473090 0.00006
NM_000335.5(SCN5A):c.103G>A (p.Gly35Ser) rs199473552 0.00004
NM_000335.5(SCN5A):c.1858C>T (p.Arg620Cys) rs199473577 0.00004
NM_000335.5(SCN5A):c.3692G>A (p.Arg1231Gln) rs199473206 0.00004
NM_000335.5(SCN5A):c.4807G>A (p.Val1603Met) rs199473280 0.00004
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561 0.00004
NM_000335.5(SCN5A):c.880G>A (p.Val294Met) rs199473086 0.00004
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His) rs199473101 0.00003
NM_000335.5(SCN5A):c.1577G>A (p.Arg526His) rs45627438 0.00003
NM_000335.5(SCN5A):c.1663G>A (p.Glu555Lys) rs199473123 0.00003
NM_000335.5(SCN5A):c.2553C>A (p.Phe851Leu) rs199473340 0.00003
NM_000335.5(SCN5A):c.2657A>C (p.His886Pro) rs199473169 0.00003
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln) rs199473211 0.00003
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220 0.00003
NM_000335.5(SCN5A):c.4339A>C (p.Ile1447Leu) rs199473250 0.00003
NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr) rs137854603 0.00003
NM_000335.5(SCN5A):c.5809G>A (p.Glu1937Lys) rs199473329 0.00003
NM_000335.5(SCN5A):c.5948C>T (p.Thr1983Ile) rs778230530 0.00003
NM_000335.5(SCN5A):c.2365G>A (p.Val789Ile) rs199473159 0.00002
NM_000335.5(SCN5A):c.4015G>A (p.Val1339Ile) rs199473605 0.00002
NM_000335.5(SCN5A):c.436G>A (p.Val146Met) rs199473061 0.00002
NM_000335.5(SCN5A):c.4745G>A (p.Arg1582His) rs199473621 0.00002
NM_000335.5(SCN5A):c.845G>A (p.Arg282His) rs199473083 0.00002
NM_000335.5(SCN5A):c.874G>A (p.Gly292Ser) rs199473085 0.00002
NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565 0.00001
NM_000335.5(SCN5A):c.1100G>A (p.Arg367His) rs28937318 0.00001
NM_000335.5(SCN5A):c.1595T>G (p.Phe532Cys) rs199473573 0.00001
NM_000335.5(SCN5A):c.1700T>A (p.Leu567Gln) rs199473124 0.00001
NM_000335.5(SCN5A):c.1895C>T (p.Thr632Met) rs199473134 0.00001
NM_000335.5(SCN5A):c.1981C>T (p.Arg661Trp) rs199473139 0.00001
NM_000335.5(SCN5A):c.2047T>G (p.Cys683Gly) rs199473144 0.00001
NM_000335.5(SCN5A):c.210T>G (p.Asn70Lys) rs199473050 0.00001
NM_000335.5(SCN5A):c.2150C>T (p.Pro717Leu) rs199473149 0.00001
NM_000335.5(SCN5A):c.2236G>A (p.Glu746Lys) rs199473582 0.00001
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 0.00001
NM_000335.5(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171 0.00001
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His) rs199473172 0.00001
NM_000335.5(SCN5A):c.376A>G (p.Lys126Glu) rs185492581 0.00001
NM_000335.5(SCN5A):c.3781G>A (p.Gly1261Ser) rs137854616 0.00001
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618 0.00001
NM_000335.5(SCN5A):c.4054G>A (p.Val1352Met) rs199473233 0.00001
NM_000335.5(SCN5A):c.4349T>A (p.Val1450Asp) rs199473252 0.00001
NM_000335.5(SCN5A):c.4570G>A (p.Val1524Met) rs199473269 0.00001
NM_000335.5(SCN5A):c.4639G>A (p.Glu1547Lys) rs199473271 0.00001
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys) rs45514691 0.00001
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met) rs199473282 0.00001
NM_000335.5(SCN5A):c.4883G>A (p.Arg1628Gln) rs199473623 0.00001
NM_000335.5(SCN5A):c.4G>A (p.Ala2Thr) rs199473042 0.00001
NM_000335.5(SCN5A):c.5089G>A (p.Ala1697Thr) rs199473295 0.00001
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg) rs199473305 0.00001
NM_000335.5(SCN5A):c.554C>T (p.Ala185Val) rs199473067 0.00001
NM_000335.5(SCN5A):c.5800G>A (p.Gly1934Ser) rs199473637 0.00001
NM_000335.5(SCN5A):c.5888C>T (p.Ser1963Phe) rs199473332 0.00001
NM_000335.5(SCN5A):c.5900T>G (p.Ile1967Ser) rs199473639 0.00001
NM_000335.5(SCN5A):c.898G>A (p.Val300Ile) rs199473088 0.00001
NM_000335.5(SCN5A):c.944T>C (p.Leu315Pro) rs199473564 0.00001
NM_000335.5(SCN5A):c.959C>A (p.Thr320Asn) rs199473091 0.00001
NM_000335.5(SCN5A):c.1007C>T (p.Pro336Leu) rs199473093
NM_000335.5(SCN5A):c.1052G>A (p.Gly351Asp) rs199473095
NM_000335.5(SCN5A):c.1052G>T (p.Gly351Val) rs199473095
NM_000335.5(SCN5A):c.1058C>T (p.Thr353Ile) rs199473096
NM_000335.5(SCN5A):c.1076C>A (p.Ala359Asp) rs1553704925
NM_000335.5(SCN5A):c.1100G>T (p.Arg367Leu) rs28937318
NM_000335.5(SCN5A):c.1106T>A (p.Met369Lys) rs199473098
NM_000335.5(SCN5A):c.1120T>G (p.Trp374Gly) rs199473566
NM_000335.5(SCN5A):c.1156G>A (p.Gly386Arg) rs199473102
NM_000335.5(SCN5A):c.1157G>A (p.Gly386Glu) rs199473567
NM_000335.5(SCN5A):c.1186G>C (p.Val396Leu) rs199473104
NM_000335.5(SCN5A):c.1187T>C (p.Val396Ala) rs199473103
NM_000335.5(SCN5A):c.1217A>G (p.Asn406Ser) rs199473568
NM_000335.5(SCN5A):c.1315G>A (p.Glu439Lys) rs199473570
NM_000335.5(SCN5A):c.1502A>G (p.Asp501Gly) rs199473117
NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile) rs199473118
NM_000335.5(SCN5A):c.1629T>A (p.Phe543Leu) rs199473122
NM_000335.5(SCN5A):c.1651G>A (p.Ala551Thr) rs199473574
NM_000335.5(SCN5A):c.1654G>A (p.Gly552Arg) rs3918389
NM_000335.5(SCN5A):c.1756G>A (p.Ala586Thr) rs199473129
NM_000335.5(SCN5A):c.1918C>G (p.Pro640Ala) rs199473137
NM_000335.5(SCN5A):c.2042A>C (p.His681Pro) rs199473143
NM_000335.5(SCN5A):c.2203G>A (p.Ala735Thr) rs199473151
NM_000335.5(SCN5A):c.2204C>A (p.Ala735Glu) rs137854611
NM_000335.5(SCN5A):c.2204C>T (p.Ala735Val) rs137854611
NM_000335.5(SCN5A):c.2254G>A (p.Gly752Arg) rs199473153
NM_000335.5(SCN5A):c.2273G>A (p.Gly758Glu) rs199473154
NM_000335.5(SCN5A):c.2291T>G (p.Met764Arg) rs199473156
NM_000335.5(SCN5A):c.2317C>T (p.Pro773Ser) rs199473158
NM_000335.5(SCN5A):c.2504C>T (p.Ser835Leu) rs199473163
NM_000335.5(SCN5A):c.250G>A (p.Asp84Asn) rs199473051
NM_000335.5(SCN5A):c.2516T>C (p.Leu839Pro) rs199473164
NM_000335.5(SCN5A):c.2551T>C (p.Phe851Leu) rs199473586
NM_000335.5(SCN5A):c.2599G>C (p.Glu867Gln) rs199473167
NM_000335.5(SCN5A):c.2632C>T (p.Arg878Cys) rs199473168
NM_000335.5(SCN5A):c.2633G>A (p.Arg878His) rs199473587
NM_000335.5(SCN5A):c.2674T>A (p.Phe892Ile) rs199473170
NM_000335.5(SCN5A):c.2686T>A (p.Cys896Ser) rs199473173
NM_000335.5(SCN5A):c.2701G>A (p.Glu901Lys) rs199473174
NM_000335.5(SCN5A):c.2729C>T (p.Ser910Leu) rs199473175
NM_000335.5(SCN5A):c.2743T>C (p.Cys915Arg) rs199473588
NM_000335.5(SCN5A):c.2750T>G (p.Leu917Arg) rs199473176
NM_000335.5(SCN5A):c.2780A>G (p.Asn927Ser) rs199473589
NM_000335.5(SCN5A):c.2783T>C (p.Leu928Pro) rs199473178
NM_000335.5(SCN5A):c.278T>C (p.Phe93Ser) rs199473052
NM_000335.5(SCN5A):c.281T>G (p.Ile94Ser) rs199473053
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile) rs199473054
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_000335.5(SCN5A):c.311G>A (p.Arg104Gln) rs199473554
NM_000335.5(SCN5A):c.327C>A (p.Asn109Lys) rs199473056
NM_000335.5(SCN5A):c.3416G>C (p.Ser1139Thr) rs199473199
NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_000335.5(SCN5A):c.362G>A (p.Arg121Gln) rs199473058
NM_000335.5(SCN5A):c.3653G>A (p.Ser1218Asn) rs199473597
NM_000335.5(SCN5A):c.3679T>C (p.Tyr1227His) rs199473205
NM_000335.5(SCN5A):c.3691C>T (p.Arg1231Trp) rs199473207
NM_000335.5(SCN5A):c.3704A>G (p.Lys1235Arg) rs199473209
NM_000335.5(SCN5A):c.3705G>T (p.Lys1235Asn) rs199473208
NM_000335.5(SCN5A):c.3713T>C (p.Leu1238Pro) rs199473210
NM_000335.5(SCN5A):c.3743T>A (p.Val1248Asp) rs199473213
NM_000335.5(SCN5A):c.3755A>G (p.Glu1252Gly) rs199473214
NM_000335.5(SCN5A):c.3810G>C (p.Trp1270Cys) rs199473601
NM_000335.5(SCN5A):c.3838G>T (p.Val1280Phe) rs199473602
NM_000335.5(SCN5A):c.3860C>G (p.Ala1287Gly) rs199473217
NM_000335.5(SCN5A):c.3929T>C (p.Leu1310Pro) rs199473219
NM_000335.5(SCN5A):c.3965T>G (p.Val1322Gly) rs199473221
NM_000335.5(SCN5A):c.3992C>T (p.Pro1331Leu) rs199473225
NM_000335.5(SCN5A):c.3G>A (p.Met1Ile) rs199473550
NM_000335.5(SCN5A):c.4027T>C (p.Phe1343Leu) rs199473228
NM_000335.5(SCN5A):c.4028T>C (p.Phe1343Ser) rs199473229
NM_000335.5(SCN5A):c.4032G>T (p.Trp1344Cys) rs199473606
NM_000335.5(SCN5A):c.4033C>A (p.Leu1345Ile) rs199473230
NM_000335.5(SCN5A):c.4034T>C (p.Leu1345Pro) rs199473231
NM_000335.5(SCN5A):c.4046T>C (p.Ile1349Thr) rs199473607
NM_000335.5(SCN5A):c.4049T>G (p.Met1350Arg) rs199473232
NM_000335.5(SCN5A):c.4069G>T (p.Gly1357Trp) rs199473234
NM_000335.5(SCN5A):c.4074G>T (p.Lys1358Asn) rs199473235
NM_000335.5(SCN5A):c.4076T>G (p.Phe1359Cys) rs199473236
NM_000335.5(SCN5A):c.407T>C (p.Leu136Pro) rs199473557
NM_000335.5(SCN5A):c.4085G>A (p.Cys1362Tyr) rs199473237
NM_000335.5(SCN5A):c.4137C>G (p.Asn1379Lys) rs199473238
NM_000335.5(SCN5A):c.4142G>T (p.Ser1381Ile) rs199473608
NM_000335.5(SCN5A):c.4210G>A (p.Val1404Met) rs199473239
NM_000335.5(SCN5A):c.4210G>C (p.Val1404Leu) rs199473239
NM_000335.5(SCN5A):c.4213G>A (p.Gly1405Arg) rs199473240
NM_000335.5(SCN5A):c.4214G>A (p.Gly1405Glu) rs199473609
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.5(SCN5A):c.4223A>G (p.Tyr1408Cys) rs199473610
NM_000335.5(SCN5A):c.4231C>T (p.Leu1411Phe) rs199473241
NM_000335.5(SCN5A):c.4252A>G (p.Lys1418Glu) rs199473242
NM_000335.5(SCN5A):c.4255G>C (p.Gly1419Arg) rs199473611
NM_000335.5(SCN5A):c.4256G>T (p.Gly1419Val) rs199473243
NM_000335.5(SCN5A):c.4276G>T (p.Ala1426Ser) rs199473244
NM_000335.5(SCN5A):c.4280C>T (p.Ala1427Val) rs199473612
NM_000335.5(SCN5A):c.4291A>G (p.Arg1431Gly) rs199473245
NM_000335.5(SCN5A):c.4295G>T (p.Gly1432Val) rs199473247
NM_000335.5(SCN5A):c.4310C>T (p.Pro1437Leu) rs199473248
NM_000335.5(SCN5A):c.4318G>C (p.Glu1440Gln) rs199473249
NM_000335.5(SCN5A):c.4340T>C (p.Ile1447Thr) rs199473251
NM_000335.5(SCN5A):c.4343A>G (p.Tyr1448Cys) rs199473613
NM_000335.5(SCN5A):c.4384A>T (p.Asn1462Tyr) rs199473614
NM_000335.5(SCN5A):c.4399G>T (p.Val1467Phe) rs199473254
NM_000335.5(SCN5A):c.4477T>A (p.Tyr1493Asn) rs199473261
NM_000335.5(SCN5A):c.4501G>A (p.Gly1501Ser) rs199473267
NM_000335.5(SCN5A):c.4559T>A (p.Ile1520Lys) rs199473617
NM_000335.5(SCN5A):c.4577A>G (p.Lys1526Arg) rs199473270
NM_000335.5(SCN5A):c.4654A>C (p.Ser1552Arg) rs199473272
NM_000335.5(SCN5A):c.4702G>C (p.Ala1568Pro) rs199473273
NM_000335.5(SCN5A):c.4709T>G (p.Phe1570Cys) rs199473274
NM_000335.5(SCN5A):c.4717G>A (p.Glu1573Lys) rs199473620
NM_000335.5(SCN5A):c.4742T>C (p.Leu1581Pro) rs199473275
NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys) rs199473062
NM_000335.5(SCN5A):c.481G>C (p.Glu161Gln) rs199473062
NM_000335.5(SCN5A):c.4835A>T (p.Gln1612Leu) rs199473281
NM_000335.5(SCN5A):c.4882C>G (p.Arg1628Gly) rs199473284
NM_000335.5(SCN5A):c.4922G>A (p.Gly1641Glu) rs199473624
NM_000335.5(SCN5A):c.4943C>T (p.Ala1648Val) rs199473289
NM_000335.5(SCN5A):c.4978G>C (p.Gly1660Arg) rs199473292
NM_000335.5(SCN5A):c.5012C>A (p.Ser1671Tyr) rs199473626
NM_000335.5(SCN5A):c.5115G>C (p.Gln1705His) rs199473296
NM_000335.5(SCN5A):c.5123C>G (p.Thr1708Arg) rs199473297
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met) rs199473297
NM_000335.5(SCN5A):c.5131G>A (p.Gly1711Ser) rs199473298
NM_000335.5(SCN5A):c.5138A>G (p.Asp1713Gly) rs199473628
NM_000335.5(SCN5A):c.5161A>G (p.Asn1721Asp) rs199473299
NM_000335.5(SCN5A):c.5179T>C (p.Cys1727Arg) rs199473302
NM_000335.5(SCN5A):c.5181C>G (p.Cys1727Trp) rs193922726
NM_000335.5(SCN5A):c.5215G>A (p.Gly1739Arg) rs199473304
NM_000335.5(SCN5A):c.5225G>A (p.Gly1742Glu) rs199473629
NM_000335.5(SCN5A):c.525G>C (p.Lys175Asn) rs199473063
NM_000335.5(SCN5A):c.5287G>T (p.Val1763Phe) rs199473309
NM_000335.5(SCN5A):c.5318A>G (p.Asn1773Ser) rs199473313
NM_000335.5(SCN5A):c.533C>G (p.Ala178Gly) rs199473065
NM_000335.5(SCN5A):c.5380T>C (p.Tyr1794His) rs137854615
NM_000335.5(SCN5A):c.544T>C (p.Cys182Arg) rs199473066
NM_000335.5(SCN5A):c.5546G>C (p.Cys1849Ser) rs199473322
NM_000335.5(SCN5A):c.5578G>A (p.Val1860Ile) rs199473636
NM_000335.5(SCN5A):c.560C>T (p.Thr187Ile) rs199473558
NM_000335.5(SCN5A):c.5613G>C (p.Lys1871Asn) rs199473323
NM_000335.5(SCN5A):c.611C>T (p.Ala204Val) rs199473559
NM_000335.5(SCN5A):c.635T>A (p.Leu212Gln) rs199473070
NM_000335.5(SCN5A):c.667G>C (p.Val223Leu) rs199473560
NM_000335.5(SCN5A):c.688A>G (p.Ile230Val) rs199473074
NM_000335.5(SCN5A):c.808C>A (p.Gln270Lys) rs199473079
NM_000335.5(SCN5A):c.827T>A (p.Leu276Gln) rs199473081
NM_000335.5(SCN5A):c.832C>G (p.His278Asp) rs199473562
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_000335.5(SCN5A):c.951G>C (p.Lys317Asn) rs199473089
NM_000335.5(SCN5A):c.974T>G (p.Leu325Arg) rs199473092

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