ClinVar Miner

List of variants in gene SCN5A reported as pathogenic

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Gene type:
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Total variants: 172
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HGVS dbSNP
NC_000003.11:g.(?_38655234)_(38663980_?)del
NC_000003.11:g.(?_38674526)_(38674850_?)del
NM_000335.4(SCN5A):c.100_101CG[1] (p.Gly35fs) rs1131691708
NM_000335.4(SCN5A):c.104del (p.Gly35fs) rs1060501142
NM_000335.4(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565
NM_000335.4(SCN5A):c.1080G>A (p.Trp360Ter) rs794728851
NM_000335.4(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097
NM_000335.4(SCN5A):c.1100G>A (p.Arg367His) rs28937318
NM_000335.4(SCN5A):c.1121G>A (p.Trp374Ter) rs1553704898
NM_000335.4(SCN5A):c.1127G>A (p.Arg376His) rs199473101
NM_000335.4(SCN5A):c.1134T>A (p.Tyr378Ter) rs373172185
NM_000335.4(SCN5A):c.1135C>T (p.Gln379Ter)
NM_000335.4(SCN5A):c.1167C>A (p.Tyr389Ter) rs794728854
NM_000335.4(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.4(SCN5A):c.1247A>G (p.Tyr416Cys) rs372395294
NM_000335.4(SCN5A):c.1282G>A (p.Glu428Lys) rs199473111
NM_000335.4(SCN5A):c.1333C>G (p.His445Asp) rs199473112
NM_000335.4(SCN5A):c.1338+2T>A rs786204839
NM_000335.4(SCN5A):c.1410C>G (p.Asn470Lys) rs199473115
NM_000335.4(SCN5A):c.1428_1431del (p.Ser476fs) rs794728906
NM_000335.4(SCN5A):c.1535C>T (p.Thr512Ile) rs199473118
NM_000335.4(SCN5A):c.1540G>T (p.Gly514Cys) rs137854606
NM_000335.4(SCN5A):c.1583_1584del (p.Ser528fs) rs794728907
NM_000335.4(SCN5A):c.1603C>T (p.Arg535Ter) rs1417036453
NM_000335.4(SCN5A):c.1604G>A (p.Arg535Gln) rs199473121
NM_000335.4(SCN5A):c.1711del (p.Ser571fs) rs794728908
NM_000335.4(SCN5A):c.1753del (p.His585fs) rs794728910
NM_000335.4(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452
NM_000335.4(SCN5A):c.1891-1G>A rs794728858
NM_000335.4(SCN5A):c.1936del (p.Gln646fs) rs727505158
NM_000335.4(SCN5A):c.1963G>A (p.Glu655Lys) rs199473579
NM_000335.4(SCN5A):c.2023+2T>A rs794728928
NM_000335.4(SCN5A):c.204T>A (p.Tyr68Ter) rs1553607561
NM_000335.4(SCN5A):c.2103del (p.Leu702fs) rs794728911
NM_000335.4(SCN5A):c.2184_2186del (p.Leu729del) rs1060499940
NM_000335.4(SCN5A):c.2204C>T (p.Ala735Val) rs137854611
NM_000335.4(SCN5A):c.2254G>A (p.Gly752Arg) rs199473153
NM_000335.4(SCN5A):c.2291T>C (p.Met764Thr) rs199473156
NM_000335.4(SCN5A):c.2298dup (p.Lys767fs)
NM_000335.4(SCN5A):c.2334_2335insTTTCCAA (p.Gln779fs) rs1064793651
NM_000335.4(SCN5A):c.2343del (p.Gly780_Trp781insTer) rs794728909
NM_000335.4(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000335.4(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584
NM_000335.4(SCN5A):c.2466G>A (p.Trp822Ter) rs1553700699
NM_000335.4(SCN5A):c.2527A>G (p.Thr843Ala) rs199473165
NM_000335.4(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.4(SCN5A):c.2548_2549GT[3] (p.Phe851fs) rs397514450
NM_000335.4(SCN5A):c.2575C>T (p.Gln859Ter) rs794728865
NM_000335.4(SCN5A):c.2582_2583del (p.Phe861fs) rs794728914
NM_000335.4(SCN5A):c.2632C>T (p.Arg878Cys) rs199473168
NM_000335.4(SCN5A):c.2636G>A (p.Trp879Ter) rs1060501114
NM_000335.4(SCN5A):c.2704_2705dup (p.Met903fs) rs794728942
NM_000335.4(SCN5A):c.311G>A (p.Arg104Gln) rs199473554
NM_000335.4(SCN5A):c.3488dup (p.Glu1164fs) rs794728918
NM_000335.4(SCN5A):c.3512_3513GT[1] (p.Val1172fs) rs794728919
NM_000335.4(SCN5A):c.3550C>T (p.Gln1184Ter) rs794728873
NM_000335.4(SCN5A):c.3570G>A (p.Trp1190Ter)
NM_000335.4(SCN5A):c.3572G>A (p.Trp1191Ter) rs794728931
NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.4(SCN5A):c.3619G>T (p.Glu1207Ter) rs774537241
NM_000335.4(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_000335.4(SCN5A):c.3628_3630ATC[1] (p.Ile1211del) rs794728920
NM_000335.4(SCN5A):c.362G>A (p.Arg121Gln) rs199473058
NM_000335.4(SCN5A):c.3688G>A (p.Glu1230Lys) rs199473598
NM_000335.4(SCN5A):c.3691C>T (p.Arg1231Trp) rs199473207
NM_000335.4(SCN5A):c.3781G>A (p.Gly1261Ser) rs137854616
NM_000335.4(SCN5A):c.3809G>A (p.Trp1270Ter) rs1553696647
NM_000335.4(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618
NM_000335.4(SCN5A):c.3820G>T (p.Asp1274Tyr) rs137854618
NM_000335.4(SCN5A):c.3837+1G>A rs1366120635
NM_000335.4(SCN5A):c.3873del (p.Phe1292fs) rs1553695847
NM_000335.4(SCN5A):c.3880G>A (p.Glu1294Lys) rs199473218
NM_000335.4(SCN5A):c.3890C>T (p.Pro1297Leu) rs28937319
NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000335.4(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220
NM_000335.4(SCN5A):c.3960+2T>C rs397514447
NM_000335.4(SCN5A):c.3971A>G (p.Asn1324Ser) rs28937317
NM_000335.4(SCN5A):c.3973G>T (p.Ala1325Ser) rs199473222
NM_000335.4(SCN5A):c.3985G>A (p.Ala1329Thr) rs199473224
NM_000335.4(SCN5A):c.3991C>T (p.Pro1331Ser) rs794728877
NM_000335.4(SCN5A):c.3992C>T (p.Pro1331Leu) rs199473225
NM_000335.4(SCN5A):c.3992del (p.Pro1331fs) rs727504801
NM_000335.4(SCN5A):c.3997A>G (p.Ile1333Val) rs199473226
NM_000335.4(SCN5A):c.4032G>A (p.Trp1344Ter) rs199473606
NM_000335.4(SCN5A):c.4144C>T (p.Gln1382Ter) rs1553695282
NM_000335.4(SCN5A):c.4179C>G (p.Tyr1393Ter) rs863224532
NM_000335.4(SCN5A):c.4187del (p.Lys1396fs) rs397514446
NM_000335.4(SCN5A):c.4214G>A (p.Gly1405Glu) rs199473609
NM_000335.4(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.4(SCN5A):c.4242+1G>C rs794728879
NM_000335.4(SCN5A):c.4243-2del rs794728943
NM_000335.4(SCN5A):c.4259G>A (p.Trp1420Ter) rs137854620
NM_000335.4(SCN5A):c.4296+6T>C rs794728934
NM_000335.4(SCN5A):c.435C>A (p.Cys145Ter)
NM_000335.4(SCN5A):c.4370C>A (p.Ser1457Tyr) rs199473253
NM_000335.4(SCN5A):c.4381del (p.Thr1460_Leu1461insTer) rs1553694426
NM_000335.4(SCN5A):c.4420del (p.Gln1474fs) rs886039018
NM_000335.4(SCN5A):c.4468C>T (p.Gln1490Ter) rs1559727990
NM_000335.4(SCN5A):c.4469del (p.Gln1490fs) rs794728944
NM_000335.4(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) rs397514251
NM_000335.4(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602
NM_000335.4(SCN5A):c.4609_4613dup (p.Cys1538Ter) rs794728945
NM_000335.4(SCN5A):c.4654del (p.Ser1552fs) rs1559725687
NM_000335.4(SCN5A):c.467G>A (p.Trp156Ter) rs886041848
NM_000335.4(SCN5A):c.468G>A (p.Trp156Ter) rs1553605932
NM_000335.4(SCN5A):c.4716C>T (p.Gly1572=) rs754221948
NM_000335.4(SCN5A):c.4769G>A (p.Trp1590Ter) rs863225273
NM_000335.4(SCN5A):c.4780G>A (p.Asp1594Asn) rs137854607
NM_000335.4(SCN5A):c.4780G>C (p.Asp1594His) rs137854607
NM_000335.4(SCN5A):c.4810G>C (p.Gly1604Arg) rs794728938
NM_000335.4(SCN5A):c.481G>A (p.Glu161Lys) rs199473062
NM_000335.4(SCN5A):c.4842_4844delinsGTA (p.Tyr1614_Phe1615delinsTer) rs863224533
NM_000335.4(SCN5A):c.4844_4846TCT[1] (p.Phe1616del) rs749697698
NM_000335.4(SCN5A):c.4856C>T (p.Thr1619Met) rs199473282
NM_000335.4(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
NM_000335.4(SCN5A):c.4865G>A (p.Arg1622Gln) rs137854600
NM_000335.4(SCN5A):c.4874G>A (p.Arg1625His) rs199473283
NM_000335.4(SCN5A):c.4882C>T (p.Arg1628Ter) rs199473284
NM_000335.4(SCN5A):c.4883G>A (p.Arg1628Gln) rs199473623
NM_000335.4(SCN5A):c.4891C>T (p.Arg1631Cys) rs878855292
NM_000335.4(SCN5A):c.4892G>A (p.Arg1631His) rs199473286
NM_000335.4(SCN5A):c.4909C>T (p.Arg1637Ter) rs761505217
NM_000335.4(SCN5A):c.4928G>A (p.Arg1643His) rs28937316
NM_000335.4(SCN5A):c.4931C>T (p.Thr1644Met) rs199473288
NM_000335.4(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604
NM_000335.4(SCN5A):c.5128del (p.Ala1710fs) rs397514448
NM_000335.4(SCN5A):c.5212C>T (p.Arg1738Trp) rs199473303
NM_000335.4(SCN5A):c.5224G>A (p.Gly1742Arg) rs199473305
NM_000335.4(SCN5A):c.5276T>G (p.Phe1759Cys) rs1559721331
NM_000335.4(SCN5A):c.5284G>A (p.Val1762Met) rs199473631
NM_000335.4(SCN5A):c.5293A>T (p.Met1765Leu) rs199473310
NM_000335.4(SCN5A):c.5299A>G (p.Ile1767Val) rs199473311
NM_000335.4(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601
NM_000335.4(SCN5A):c.5354_5357TGAG[1] (p.Ser1786fs) rs1559720961
NM_000335.4(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316
NM_000335.4(SCN5A):c.5380T>C (p.Tyr1794His) rs137854615
NM_000335.4(SCN5A):c.5381A>G (p.Tyr1794Cys) rs137854614
NM_000335.4(SCN5A):c.5381_5382del (p.Phe1793_Tyr1794insTer) rs1559720870
NM_000335.4(SCN5A):c.5382_5384dup (p.Glu1795_Ile1796insAsp) rs397514449
NM_000335.4(SCN5A):c.5383G>T (p.Glu1795Ter) rs1553692734
NM_000335.4(SCN5A):c.5425G>T (p.Glu1809Ter) rs1060501145
NM_000335.4(SCN5A):c.5452G>A (p.Asp1818Asn) rs137854619
NM_000335.4(SCN5A):c.5458_5459del (p.Leu1820fs) rs1553692660
NM_000335.4(SCN5A):c.5461_5464del (p.Glu1822fs) rs794728924
NM_000335.4(SCN5A):c.5474G>A (p.Arg1825His) rs137854610
NM_000335.4(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942
NM_000335.4(SCN5A):c.5690G>A (p.Arg1897His) rs370694515
NM_000335.4(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233
NM_000335.4(SCN5A):c.5723A>G (p.Gln1908Arg) rs199473326
NM_000335.4(SCN5A):c.5767G>A (p.Ala1923Thr) rs137854603
NM_000335.4(SCN5A):c.57del (p.Glu19fs) rs794728902
NM_000335.4(SCN5A):c.5827C>T (p.Arg1943Ter) rs794728940
NM_000335.4(SCN5A):c.5869C>T (p.Arg1957Ter) rs757532106
NM_000335.4(SCN5A):c.5958C>A (p.Asn1986Lys) rs199473335
NM_000335.4(SCN5A):c.6045G>A (p.Val2015=) rs1060499941
NM_000335.4(SCN5A):c.611+1G>A rs794728843
NM_000335.4(SCN5A):c.611+3_611+4dup rs397514252
NM_000335.4(SCN5A):c.635T>C (p.Leu212Pro) rs199473070
NM_000335.4(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_000335.4(SCN5A):c.664C>T (p.Arg222Ter) rs794728849
NM_000335.4(SCN5A):c.665G>A (p.Arg222Gln) rs45546039
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) rs199473072
NM_000335.4(SCN5A):c.702A>C (p.Ser234=) rs794728850
NM_000335.4(SCN5A):c.80G>A (p.Arg27His) rs199473045
NM_000335.4(SCN5A):c.845G>A (p.Arg282His) rs199473083
NM_000335.4(SCN5A):c.892G>A (p.Gly298Ser) rs137854608
NM_000335.4(SCN5A):c.904G>T (p.Glu302Ter) rs1060501136
NM_000335.4(SCN5A):c.[3919C>T;694G>A]
NM_001099404.1(SCN5A):c.615T>G (p.Tyr205Ter)
NM_198056.2(SCN5A):c.3964-2_3964delAGG rs794728921
NM_198056.2(SCN5A):c.[1535C>T;1673A>G]
NM_198056.2(SCN5A):c.[3694C>T;4859C>T]

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