ClinVar Miner

List of variants in gene SCN5A reported as not provided for Brugada syndrome 1

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 212
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.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.4639G>A (p.Glu1547Lys) rs199473271 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.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

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.