ClinVar Miner

List of variants in gene SCN5A reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 255
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln) rs191009474 0.00011
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) rs199473072 0.00009
NM_000335.5(SCN5A):c.4067C>T (p.Ala1356Val) rs370588133 0.00007
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_000335.5(SCN5A):c.4456A>C (p.Met1486Leu) rs199473258 0.00005
NM_000335.5(SCN5A):c.3905G>A (p.Arg1302Gln) rs977717858 0.00004
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg) rs199473260 0.00004
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His) rs199473283 0.00004
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter) rs794728940 0.00004
NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter) rs757532106 0.00004
NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met) rs762981322 0.00004
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561 0.00004
NM_000335.5(SCN5A):c.739G>C (p.Val247Leu) rs199473078 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.2657A>C (p.His886Pro) rs199473169 0.00003
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln) rs199473211 0.00003
NM_000335.5(SCN5A):c.393-1C>T rs759235726 0.00003
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220 0.00003
NM_000335.5(SCN5A):c.4867G>A (p.Val1623Ile) rs794728888 0.00003
NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr) rs137854603 0.00003
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266 0.00002
NM_000335.5(SCN5A):c.612-2A>G rs370438420 0.00002
NM_000335.5(SCN5A):c.655C>T (p.Arg219Cys) rs762012668 0.00002
NM_000335.5(SCN5A):c.845G>A (p.Arg282His) rs199473083 0.00002
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn) rs779687673 0.00001
NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565 0.00001
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097 0.00001
NM_000335.5(SCN5A):c.1141-1G>A rs1377226524 0.00001
NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys) rs199473119 0.00001
NM_000335.5(SCN5A):c.1700T>A (p.Leu567Gln) rs199473124 0.00001
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=) rs1204915217 0.00001
NM_000335.5(SCN5A):c.2422C>T (p.Arg808Cys) rs749864465 0.00001
NM_000335.5(SCN5A):c.2431C>T (p.Arg811Cys) rs794728864 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.3647T>G (p.Leu1216Arg) rs794728876 0.00001
NM_000335.5(SCN5A):c.3781G>A (p.Gly1261Ser) rs137854616 0.00001
NM_000335.5(SCN5A):c.4129G>A (p.Val1377Met) rs748312802 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.4708T>C (p.Phe1570Leu) rs1369632373 0.00001
NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=) rs754221948 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.4873C>T (p.Arg1625Cys) rs918933961 0.00001
NM_000335.5(SCN5A):c.4883G>A (p.Arg1628Gln) rs199473623 0.00001
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) rs199473286 0.00001
NM_000335.5(SCN5A):c.4909C>T (p.Arg1637Ter) rs761505217 0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) rs28937316 0.00001
NM_000335.5(SCN5A):c.5065G>A (p.Asp1689Asn) rs1060499900 0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_000335.5(SCN5A):c.5210C>T (p.Ser1737Phe) rs786205271 0.00001
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg) rs199473305 0.00001
NM_000335.5(SCN5A):c.5228G>T (p.Ser1743Ile) rs794728895 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000335.5(SCN5A):c.5375T>A (p.Met1792Lys) rs794728897 0.00001
NM_000335.5(SCN5A):c.5473C>T (p.Arg1825Cys) rs199473635 0.00001
NM_000335.5(SCN5A):c.559A>G (p.Thr187Ala) rs869025517 0.00001
NM_000335.5(SCN5A):c.5737A>G (p.Arg1913Gly) rs766751878 0.00001
NM_000335.5(SCN5A):c.5935G>T (p.Val1979Phe) rs772258197 0.00001
NM_000335.5(SCN5A):c.656G>A (p.Arg219His) rs878855296 0.00001
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln) rs199473071 0.00001
NM_000335.5(SCN5A):c.680T>C (p.Leu227Pro) rs760011764 0.00001
NM_000335.5(SCN5A):c.689T>C (p.Ile230Thr) rs199473073 0.00001
NM_000335.5(SCN5A):c.820G>A (p.Gly274Ser) rs794728852 0.00001
NC_000003.11:g.(?_38591792)_(38593069_?)del
NC_000003.11:g.(?_38591812)_(38593069_?)del
NC_000003.12:g.(?_38548062)_(38551558_?)del
NC_000003.12:g.(?_38585671)_(38604928_?)del
NC_000003.12:g.(?_38609714)_(38609984_?)del
NM_000335.5(SCN5A):c.1058C>T (p.Thr353Ile) rs199473096
NM_000335.5(SCN5A):c.1066G>T (p.Asp356Tyr) rs199473565
NM_000335.5(SCN5A):c.1120T>G (p.Trp374Gly) rs199473566
NM_000335.5(SCN5A):c.1126C>T (p.Arg376Cys) rs199473100
NM_000335.5(SCN5A):c.1140+1G>A rs730880210
NM_000335.5(SCN5A):c.1141-2A>G rs2125905004
NM_000335.5(SCN5A):c.1198G>T (p.Gly400Trp) rs2062008854
NM_000335.5(SCN5A):c.1218C>A (p.Asn406Lys) rs199473108
NM_000335.5(SCN5A):c.1252G>T (p.Glu418Ter) rs869025519
NM_000335.5(SCN5A):c.1255C>T (p.Gln419Ter) rs1057518916
NM_000335.5(SCN5A):c.1338+2T>A rs786204839
NM_000335.5(SCN5A):c.1428_1431del (p.Ser476fs) rs794728906
NM_000335.5(SCN5A):c.1519-1G>A rs1553704259
NM_000335.5(SCN5A):c.1613del (p.Gly538fs) rs1553704183
NM_000335.5(SCN5A):c.1705C>G (p.Arg569Gly) rs199473576
NM_000335.5(SCN5A):c.175C>T (p.Gln59Ter) rs2125935492
NM_000335.5(SCN5A):c.1816del (p.Ala606fs) rs2125901090
NM_000335.5(SCN5A):c.1891-1G>A rs794728858
NM_000335.5(SCN5A):c.1921C>T (p.Gln641Ter) rs1064795085
NM_000335.5(SCN5A):c.1A>T (p.Met1Leu) rs1553607722
NM_000335.5(SCN5A):c.2023+1G>A rs1553703211
NM_000335.5(SCN5A):c.2024-1G>A rs2125893875
NM_000335.5(SCN5A):c.2176_2177dup (p.Ile727fs) rs869025523
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.2263-2A>G rs1274495820
NM_000335.5(SCN5A):c.2320del (p.Tyr774fs) rs2125881165
NM_000335.5(SCN5A):c.2335del (p.Gln779fs) rs2061687300
NM_000335.5(SCN5A):c.2437-1G>C
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000335.5(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.255del (p.Phe86fs) rs727503411
NM_000335.5(SCN5A):c.2575C>T (p.Gln859Ter) rs794728865
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.2677C>A (p.Arg893Ser)
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.273+1G>A rs1057524447
NM_000335.5(SCN5A):c.274-9_274-2del
NM_000335.5(SCN5A):c.2777G>A (p.Gly926Asp) rs2061653516
NM_000335.5(SCN5A):c.2787+1G>T rs1060501130
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.3388-1G>A rs2125864009
NM_000335.5(SCN5A):c.3388-1G>C
NM_000335.5(SCN5A):c.3508+1G>C
NM_000335.5(SCN5A):c.3508+1G>T
NM_000335.5(SCN5A):c.3509-1G>A rs1553698563
NM_000335.5(SCN5A):c.3509-1G>C rs1553698563
NM_000335.5(SCN5A):c.3570G>A (p.Trp1190Ter) rs1237724419
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.3650G>T (p.Ser1217Ile) rs1350817503
NM_000335.5(SCN5A):c.3663+2T>C rs2061467212
NM_000335.5(SCN5A):c.3670G>A (p.Glu1224Lys) rs199473204
NM_000335.5(SCN5A):c.3681C>G (p.Tyr1227Ter) rs1559738598
NM_000335.5(SCN5A):c.3821A>G (p.Asp1274Gly) rs2125849528
NM_000335.5(SCN5A):c.3838-2A>T
NM_000335.5(SCN5A):c.3898del (p.Ser1300fs) rs2061270021
NM_000335.5(SCN5A):c.392+2T>G
NM_000335.5(SCN5A):c.393-2A>G rs1312714061
NM_000335.5(SCN5A):c.3937_3938del (p.Leu1313fs) rs1575728590
NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter) rs1553695764
NM_000335.5(SCN5A):c.3944G>T (p.Arg1315Leu) rs765907469
NM_000335.5(SCN5A):c.3949G>T (p.Glu1317Ter) rs1553695749
NM_000335.5(SCN5A):c.3954_3960+1dup rs2061267874
NM_000335.5(SCN5A):c.3960+1G>A rs483353016
NM_000335.5(SCN5A):c.3961-2_3961del rs794728921
NM_000335.5(SCN5A):c.3961G>T (p.Val1321Leu) rs2125841157
NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser) rs28937317
NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr) rs199473224
NM_000335.5(SCN5A):c.3992C>G (p.Pro1331Arg) rs199473225
NM_000335.5(SCN5A):c.3992_3996del (p.Pro1331fs) rs1553695398
NM_000335.5(SCN5A):c.4009CTC[1] (p.Leu1338del) rs1559732656
NM_000335.5(SCN5A):c.4134CAA[1] (p.Asn1379del) rs794728922
NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter) rs1553695282
NM_000335.5(SCN5A):c.4191del (p.Val1399fs) rs1064796233
NM_000335.5(SCN5A):c.4210G>A (p.Val1404Met) rs199473239
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.5(SCN5A):c.4242+1G>C rs794728879
NM_000335.5(SCN5A):c.4242+1G>T rs794728879
NM_000335.5(SCN5A):c.4242+2T>A rs794728880
NM_000335.5(SCN5A):c.4243-2A>G rs1575719863
NM_000335.5(SCN5A):c.4243-2del rs794728943
NM_000335.5(SCN5A):c.4296+1G>A
NM_000335.5(SCN5A):c.4296+1G>T rs2061175467
NM_000335.5(SCN5A):c.4296+1del rs1450434935
NM_000335.5(SCN5A):c.4296+1dup rs1450434935
NM_000335.5(SCN5A):c.4296G>T (p.Gly1432=) rs794728935
NM_000335.5(SCN5A):c.4297-1G>A
NM_000335.5(SCN5A):c.4309C>T (p.Pro1437Ser) rs1559729142
NM_000335.5(SCN5A):c.4318G>C (p.Glu1440Gln) rs199473249
NM_000335.5(SCN5A):c.4335G>A (p.Met1445Ile) rs794728936
NM_000335.5(SCN5A):c.4336T>C (p.Tyr1446His) rs1064793326
NM_000335.5(SCN5A):c.4343A>G (p.Tyr1448Cys) rs199473613
NM_000335.5(SCN5A):c.4343A>T (p.Tyr1448Phe) rs199473613
NM_000335.5(SCN5A):c.4393A>G (p.Ile1465Val) rs794728881
NM_000335.5(SCN5A):c.4414T>C (p.Phe1472Leu) rs1057523393
NM_000335.5(SCN5A):c.4421A>T (p.Gln1474Leu) rs794728885
NM_000335.5(SCN5A):c.4427A>C (p.Lys1476Thr)
NM_000335.5(SCN5A):c.4434+5G>A rs1057520531
NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys) rs199473259
NM_000335.5(SCN5A):c.4471AAG[1] (p.Lys1492del) rs869025522
NM_000335.5(SCN5A):c.4481A>C (p.Tyr1494Ser) rs199473262
NM_000335.5(SCN5A):c.4490T>C (p.Met1497Thr) rs199473263
NM_000335.5(SCN5A):c.4504T>C (p.Ser1502Pro) rs199473342
NM_000335.5(SCN5A):c.4513C>T (p.Pro1505Ser) rs2061147191
NM_000335.5(SCN5A):c.4540-1G>T rs2061100863
NM_000335.5(SCN5A):c.4717G>A (p.Glu1573Lys) rs199473620
NM_000335.5(SCN5A):c.4717G>T (p.Glu1573Ter) rs199473620
NM_000335.5(SCN5A):c.4775T>C (p.Ile1592Thr)
NM_000335.5(SCN5A):c.4780G>A (p.Asp1594Asn) rs137854607
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His) rs137854607
NM_000335.5(SCN5A):c.482+1G>C
NM_000335.5(SCN5A):c.483-1G>A rs794728846
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.4853del (p.Pro1618fs) rs1575706847
NM_000335.5(SCN5A):c.4865G>T (p.Arg1622Leu) rs137854600
NM_000335.5(SCN5A):c.4892G>T (p.Arg1631Leu)
NM_000335.5(SCN5A):c.4910G>C (p.Arg1637Pro) rs374557801
NM_000335.5(SCN5A):c.4910G>T (p.Arg1637Leu) rs374557801
NM_000335.5(SCN5A):c.4948A>G (p.Met1650Val) rs794728889
NM_000335.5(SCN5A):c.4978G>A (p.Gly1660Arg) rs199473292
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile) rs199473293
NM_000335.5(SCN5A):c.5023A>G (p.Met1675Val) rs794728890
NM_000335.5(SCN5A):c.5024T>C (p.Met1675Thr) rs750013499
NM_000335.5(SCN5A):c.504C>A (p.Tyr168Ter)
NM_000335.5(SCN5A):c.5069T>C (p.Met1690Thr) rs794728891
NM_000335.5(SCN5A):c.5080C>T (p.Gln1694Ter) rs1085307710
NM_000335.5(SCN5A):c.5105G>A (p.Cys1702Tyr) rs794728892
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.5187del (p.Thr1730fs) rs1085307527
NM_000335.5(SCN5A):c.5225G>A (p.Gly1742Glu) rs199473629
NM_000335.5(SCN5A):c.5248TTC[1] (p.Phe1751del) rs2125826148
NM_000335.5(SCN5A):c.5263ATC[2] (p.Ile1757del) rs1575705549
NM_000335.5(SCN5A):c.5282del (p.Ile1761fs) rs886039455
NM_000335.5(SCN5A):c.528dup (p.Leu177fs)
NM_000335.5(SCN5A):c.5317A>T (p.Asn1773Tyr) rs199473633
NM_000335.5(SCN5A):c.5318del (p.Asn1773fs) rs2061027042
NM_000335.5(SCN5A):c.5341_5342del (p.Ser1781fs)
NM_000335.5(SCN5A):c.5353_5354del (p.Leu1785fs) rs886037903
NM_000335.5(SCN5A):c.5354T>A (p.Leu1785Gln) rs199473315
NM_000335.5(SCN5A):c.5354T>C (p.Leu1785Pro) rs199473315
NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter) rs1480085793
NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs) rs1060501127
NM_000335.5(SCN5A):c.5440_5443del (p.Ser1814fs) rs2061022558
NM_000335.5(SCN5A):c.5458_5459del (p.Leu1820fs) rs1553692660
NM_000335.5(SCN5A):c.5461_5464del (p.Glu1822fs) rs794728924
NM_000335.5(SCN5A):c.5527_5530dup (p.Gly1844fs) rs1064794424
NM_000335.5(SCN5A):c.5543A>G (p.His1848Arg) rs794728898
NM_000335.5(SCN5A):c.5596G>T (p.Glu1866Ter) rs1559720176
NM_000335.5(SCN5A):c.55G>T (p.Glu19Ter) rs1553607672
NM_000335.5(SCN5A):c.5620_5622dup (p.Met1874dup) rs1474459822
NM_000335.5(SCN5A):c.5621T>C (p.Met1874Thr) rs199473324
NM_000335.5(SCN5A):c.5623G>A (p.Glu1875Lys) rs794728900
NM_000335.5(SCN5A):c.5684_5685del (p.Leu1895fs) rs770059377
NM_000335.5(SCN5A):c.5822_5823del (p.Pro1941fs) rs1553692416
NM_000335.5(SCN5A):c.5894C>G (p.Ser1965Cys) rs1575703249
NM_000335.5(SCN5A):c.612-1G>A rs1200777248
NM_000335.5(SCN5A):c.638G>A (p.Gly213Asp) rs2125914363
NM_000335.5(SCN5A):c.664C>G (p.Arg222Gly) rs794728849
NM_000335.5(SCN5A):c.703+1G>C rs2125914209
NM_000335.5(SCN5A):c.703+1G>T rs2125914209
NM_000335.5(SCN5A):c.704-2A>G rs1553705586
NM_000335.5(SCN5A):c.716T>C (p.Ile239Thr)
NM_000335.5(SCN5A):c.748C>G (p.Leu250Val) rs1559778838
NM_000335.5(SCN5A):c.784A>C (p.Ser262Arg) rs777689378
NM_000335.5(SCN5A):c.840C>A (p.Cys280Ter)
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_000335.5(SCN5A):c.935-1G>A
NM_000335.5(SCN5A):c.935-2A>G
NM_000335.5(SCN5A):c.94C>T (p.Gln32Ter)
NM_000335.5(SCN5A):c.998+1G>T
NM_000335.5(SCN5A):c.999-1G>A rs2125906068
NM_001099404.2(SCN5A):c.612-1G>C rs1553706324
NM_001099404.2(SCN5A):c.655C>T (p.Arg219Ter) rs577421914
NM_001160160.2(SCN5A):c.4714+95GGGT[3]

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