ClinVar Miner

List of variants in gene SCN5A reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 259
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) rs199473072 0.00009
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg) rs199473260 0.00004
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His) rs199473101 0.00003
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220 0.00003
NM_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser) rs200034939 0.00003
NM_000335.5(SCN5A):c.4015G>A (p.Val1339Ile) rs199473605 0.00002
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.845G>A (p.Arg282His) rs199473083 0.00002
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.1100G>A (p.Arg367His) rs28937318 0.00001
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=) rs1204915217 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.3688G>A (p.Glu1230Lys) rs199473598 0.00001
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618 0.00001
NM_000335.5(SCN5A):c.3837+1G>A rs1366120635 0.00001
NM_000335.5(SCN5A):c.467G>A (p.Trp156Ter) rs886041848 0.00001
NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=) rs754221948 0.00001
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met) rs199473282 0.00001
NM_000335.5(SCN5A):c.4882C>T (p.Arg1628Ter) rs199473284 0.00001
NM_000335.5(SCN5A):c.4883G>A (p.Arg1628Gln) rs199473623 0.00001
NM_000335.5(SCN5A):c.4891C>T (p.Arg1631Cys) rs878855292 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.4931C>T (p.Thr1644Met) rs199473288 0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg) rs199473305 0.00001
NM_000335.5(SCN5A):c.5299A>G (p.Ile1767Val) rs199473311 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) rs45546039 0.00001
NM_000335.5(SCN5A):c.689T>C (p.Ile230Thr) rs199473073 0.00001
NM_000335.5(SCN5A):c.1003T>C (p.Cys335Arg) rs2125906059
NM_000335.5(SCN5A):c.102_103del (p.Gly35fs) rs1131691708
NM_000335.5(SCN5A):c.1044del (p.Asp349fs)
NM_000335.5(SCN5A):c.104del (p.Gly35fs) rs1060501142
NM_000335.5(SCN5A):c.1051_1058dup (p.Ser354fs)
NM_000335.5(SCN5A):c.1080G>A (p.Trp360Ter) rs794728851
NM_000335.5(SCN5A):c.1103del (p.Leu368fs) rs2062020547
NM_000335.5(SCN5A):c.1121G>A (p.Trp374Ter) rs1553704898
NM_000335.5(SCN5A):c.1122G>A (p.Trp374Ter) rs794728926
NM_000335.5(SCN5A):c.1126C>T (p.Arg376Cys) rs199473100
NM_000335.5(SCN5A):c.1134T>A (p.Tyr378Ter) rs373172185
NM_000335.5(SCN5A):c.1135C>T (p.Gln379Ter) rs1553704878
NM_000335.5(SCN5A):c.1140+1G>A rs730880210
NM_000335.5(SCN5A):c.1140+2T>G rs2125905710
NM_000335.5(SCN5A):c.1167C>A (p.Tyr389Ter) rs794728854
NM_000335.5(SCN5A):c.118C>T (p.Gln40Ter) rs2062566545
NM_000335.5(SCN5A):c.1225_1226del (p.Leu409fs)
NM_000335.5(SCN5A):c.1226_1227insCATA (p.Ala410fs) rs2062008042
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.5(SCN5A):c.1246del (p.Tyr416fs)
NM_000335.5(SCN5A):c.1305_1312del (p.Gln435fs)
NM_000335.5(SCN5A):c.131del (p.Glu44fs) rs2062565976
NM_000335.5(SCN5A):c.1338+2T>A rs786204839
NM_000335.5(SCN5A):c.1417G>T (p.Glu473Ter)
NM_000335.5(SCN5A):c.1452del (p.Gly485fs) rs2125902923
NM_000335.5(SCN5A):c.1555del (p.Ser519fs) rs2125901794
NM_000335.5(SCN5A):c.1583_1584del (p.Ser528fs) rs794728907
NM_000335.5(SCN5A):c.1589del (p.Phe530fs) rs2125901686
NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter) rs1417036453
NM_000335.5(SCN5A):c.1652del (p.Ala551fs)
NM_000335.5(SCN5A):c.1711del (p.Ser571fs) rs794728908
NM_000335.5(SCN5A):c.1753del (p.His585fs) rs794728910
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.189del (p.Lys63fs) rs2062564269
NM_000335.5(SCN5A):c.1921C>T (p.Gln641Ter) rs1064795085
NM_000335.5(SCN5A):c.1936del (p.Gln646fs) rs727505158
NM_000335.5(SCN5A):c.1947T>A (p.Cys649Ter)
NM_000335.5(SCN5A):c.2023+2T>A rs794728928
NM_000335.5(SCN5A):c.204T>A (p.Tyr68Ter) rs1553607561
NM_000335.5(SCN5A):c.206del (p.Gly69fs)
NM_000335.5(SCN5A):c.2091G>A (p.Trp697Ter) rs1553703015
NM_000335.5(SCN5A):c.2103del (p.Leu702fs) rs794728911
NM_000335.5(SCN5A):c.217C>T (p.Gln73Ter) rs2125935394
NM_000335.5(SCN5A):c.2204C>T (p.Ala735Val) rs137854611
NM_000335.5(SCN5A):c.2230G>T (p.Glu744Ter) rs1553702928
NM_000335.5(SCN5A):c.2254G>A (p.Gly752Arg) rs199473153
NM_000335.5(SCN5A):c.2254G>C (p.Gly752Arg)
NM_000335.5(SCN5A):c.2274del (p.Ile759fs) rs2125881256
NM_000335.5(SCN5A):c.2291T>C (p.Met764Thr) rs199473156
NM_000335.5(SCN5A):c.2298dup (p.Lys767fs) rs1575773471
NM_000335.5(SCN5A):c.2320del (p.Tyr774fs) rs2125881165
NM_000335.5(SCN5A):c.2325C>G (p.Tyr775Ter)
NM_000335.5(SCN5A):c.2334_2335insTTTCCAA (p.Gln779fs) rs1064793651
NM_000335.5(SCN5A):c.2336del (p.Gln779fs)
NM_000335.5(SCN5A):c.2343del (p.Gly780_Trp781insTer) rs794728909
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000335.5(SCN5A):c.2482C>T (p.Leu828Phe) rs794728929
NM_000335.5(SCN5A):c.2527A>G (p.Thr843Ala) rs199473165
NM_000335.5(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.2533dup (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.2541del (p.Ile848fs)
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs) rs397514450
NM_000335.5(SCN5A):c.255del (p.Phe86fs) rs727503411
NM_000335.5(SCN5A):c.2575C>T (p.Gln859Ter) rs794728865
NM_000335.5(SCN5A):c.2576del (p.Gln859fs) rs2061658738
NM_000335.5(SCN5A):c.2582_2583del (p.Phe861fs) rs794728914
NM_000335.5(SCN5A):c.2587A>T (p.Lys863Ter)
NM_000335.5(SCN5A):c.2597C>A (p.Ser866Ter)
NM_000335.5(SCN5A):c.2618C>G (p.Ser873Ter) rs794728866
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.2636G>A (p.Trp879Ter) rs1060501114
NM_000335.5(SCN5A):c.268C>T (p.Gln90Ter) rs794728839
NM_000335.5(SCN5A):c.2692G>T (p.Glu898Ter)
NM_000335.5(SCN5A):c.2704_2705dup (p.Met903fs) rs794728942
NM_000335.5(SCN5A):c.2712G>A (p.Trp904Ter)
NM_000335.5(SCN5A):c.2729C>T (p.Ser910Leu) rs199473175
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.334dup (p.Tyr112fs) rs2125931691
NM_000335.5(SCN5A):c.3394G>T (p.Glu1132Ter) rs1553698852
NM_000335.5(SCN5A):c.3488dup (p.Glu1164fs) rs794728918
NM_000335.5(SCN5A):c.3493del (p.Asp1165fs)
NM_000335.5(SCN5A):c.3514_3515del (p.Val1172fs) rs794728919
NM_000335.5(SCN5A):c.3550C>T (p.Gln1184Ter) rs794728873
NM_000335.5(SCN5A):c.3570G>A (p.Trp1190Ter) rs1237724419
NM_000335.5(SCN5A):c.3572G>A (p.Trp1191Ter) rs794728931
NM_000335.5(SCN5A):c.3573G>A (p.Trp1191Ter) rs1553698475
NM_000335.5(SCN5A):c.3584del (p.Lys1195fs)
NM_000335.5(SCN5A):c.3595dup (p.His1199fs) rs1559745565
NM_000335.5(SCN5A):c.3619G>T (p.Glu1207Ter) rs774537241
NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_000335.5(SCN5A):c.3628ATC[1] (p.Ile1211del) rs794728920
NM_000335.5(SCN5A):c.362G>A (p.Arg121Gln) rs199473058
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.3693del (p.Lys1232fs)
NM_000335.5(SCN5A):c.3694A>T (p.Lys1232Ter)
NM_000335.5(SCN5A):c.3758del (p.Met1253fs) rs2125849703
NM_000335.5(SCN5A):c.3762del (p.Leu1255fs) rs2125849694
NM_000335.5(SCN5A):c.3809G>A (p.Trp1270Ter) rs1553696647
NM_000335.5(SCN5A):c.3810G>A (p.Trp1270Ter)
NM_000335.5(SCN5A):c.3816G>A (p.Trp1272Ter)
NM_000335.5(SCN5A):c.3820G>T (p.Asp1274Tyr) rs137854618
NM_000335.5(SCN5A):c.3844_3845del (p.Leu1282fs) rs2061271482
NM_000335.5(SCN5A):c.3873del (p.Phe1292fs) rs1553695847
NM_000335.5(SCN5A):c.3891dup (p.Ile1298fs)
NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter) rs1553695764
NM_000335.5(SCN5A):c.3960+1G>A rs483353016
NM_000335.5(SCN5A):c.3960+1G>T
NM_000335.5(SCN5A):c.3960+2T>C rs397514447
NM_000335.5(SCN5A):c.3961-2_3961del rs794728921
NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser) rs28937317
NM_000335.5(SCN5A):c.3973G>T (p.Ala1325Ser) rs199473222
NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr) rs199473224
NM_000335.5(SCN5A):c.3985G>C (p.Ala1329Pro) rs199473224
NM_000335.5(SCN5A):c.3991C>T (p.Pro1331Ser) rs794728877
NM_000335.5(SCN5A):c.3992C>T (p.Pro1331Leu) rs199473225
NM_000335.5(SCN5A):c.3992_3996del (p.Pro1331fs) rs1553695398
NM_000335.5(SCN5A):c.3997A>G (p.Ile1333Val) rs199473226
NM_000335.5(SCN5A):c.4032G>A (p.Trp1344Ter) rs199473606
NM_000335.5(SCN5A):c.4085del (p.Cys1362fs) rs2125840793
NM_000335.5(SCN5A):c.40del (p.Arg14fs)
NM_000335.5(SCN5A):c.4123_4124dup (p.Ile1376fs) rs2061230986
NM_000335.5(SCN5A):c.4144C>T (p.Gln1382Ter) rs1553695282
NM_000335.5(SCN5A):c.4179C>G (p.Tyr1393Ter) rs863224532
NM_000335.5(SCN5A):c.4187del (p.Lys1396fs) rs397514446
NM_000335.5(SCN5A):c.4191del (p.Val1399fs) rs1064796233
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.5(SCN5A):c.421A>G (p.Ile141Val)
NM_000335.5(SCN5A):c.4242+1G>C rs794728879
NM_000335.5(SCN5A):c.4242+2T>A rs794728880
NM_000335.5(SCN5A):c.4243-2del rs794728943
NM_000335.5(SCN5A):c.4265_4294del (p.Asp1422_Arg1431del) rs2061175762
NM_000335.5(SCN5A):c.4270dup (p.Met1424fs)
NM_000335.5(SCN5A):c.4296+1del rs1450434935
NM_000335.5(SCN5A):c.4296+6T>C rs794728934
NM_000335.5(SCN5A):c.4316G>A (p.Trp1439Ter) rs2125835467
NM_000335.5(SCN5A):c.4320dup (p.Tyr1441fs) rs2125835443
NM_000335.5(SCN5A):c.4370C>A (p.Ser1457Tyr) rs199473253
NM_000335.5(SCN5A):c.4373del (p.Phe1458fs) rs2125835336
NM_000335.5(SCN5A):c.4381del (p.Thr1460_Leu1461insTer) rs1553694426
NM_000335.5(SCN5A):c.4420_4423del (p.Gln1474fs) rs2125835214
NM_000335.5(SCN5A):c.4423C>T (p.Gln1475Ter)
NM_000335.5(SCN5A):c.4429A>T (p.Lys1477Ter)
NM_000335.5(SCN5A):c.4450A>G (p.Ile1484Val) rs1553694247
NM_000335.5(SCN5A):c.4469del (p.Gln1490fs) rs794728944
NM_000335.5(SCN5A):c.4492AAG[1] (p.Lys1499del) rs2125834231
NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) rs397514251
NM_000335.5(SCN5A):c.4537dup (p.Leu1513fs)
NM_000335.5(SCN5A):c.4538dup (p.Asn1514fs)
NM_000335.5(SCN5A):c.4549C>T (p.Gln1517Ter)
NM_000335.5(SCN5A):c.458del (p.Pro153fs)
NM_000335.5(SCN5A):c.4609_4613dup (p.Cys1538Ter) rs794728945
NM_000335.5(SCN5A):c.4654del (p.Ser1552fs) rs1559725687
NM_000335.5(SCN5A):c.474del (p.Lys158fs)
NM_000335.5(SCN5A):c.475_482+3del rs2125922727
NM_000335.5(SCN5A):c.4770G>A (p.Trp1590Ter)
NM_000335.5(SCN5A):c.477T>G (p.Tyr159Ter) rs2062339211
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.4810G>C (p.Gly1604Arg) rs794728938
NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys) rs199473062
NM_000335.5(SCN5A):c.483-1G>A rs794728846
NM_000335.5(SCN5A):c.4836del (p.Lys1613fs)
NM_000335.5(SCN5A):c.4837A>T (p.Lys1613Ter) rs1553693059
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.4856C>A (p.Thr1619Lys) rs199473282
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
NM_000335.5(SCN5A):c.4865G>A (p.Arg1622Gln) rs137854600
NM_000335.5(SCN5A):c.4927C>T (p.Arg1643Cys) rs199473287
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile) rs199473293
NM_000335.5(SCN5A):c.5068_5069del (p.Met1690fs)
NM_000335.5(SCN5A):c.5074_5077dup (p.Phe1693Ter) rs2125826555
NM_000335.5(SCN5A):c.5135G>A (p.Trp1712Ter)
NM_000335.5(SCN5A):c.5218del (p.Asp1740fs) rs1251085820
NM_000335.5(SCN5A):c.5225G>A (p.Gly1742Glu) rs199473629
NM_000335.5(SCN5A):c.5276T>G (p.Phe1759Cys) rs1559721331
NM_000335.5(SCN5A):c.5276_5279del (p.Phe1759fs)
NM_000335.5(SCN5A):c.5284G>A (p.Val1762Met) rs199473631
NM_000335.5(SCN5A):c.5295G>A (p.Met1765Ile) rs1553692822
NM_000335.5(SCN5A):c.5295G>C (p.Met1765Ile)
NM_000335.5(SCN5A):c.5295del (p.Met1765fs)
NM_000335.5(SCN5A):c.5353_5354del (p.Leu1785fs) rs886037903
NM_000335.5(SCN5A):c.5358_5361del (p.Ser1786fs) rs1559720961
NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter) rs1480085793
NM_000335.5(SCN5A):c.5366A>G (p.Asp1789Gly) rs199473317
NM_000335.5(SCN5A):c.5378del (p.Phe1793fs) rs2061024277
NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys) rs137854614
NM_000335.5(SCN5A):c.5381_5382del (p.Phe1793_Tyr1794insTer) rs1559720870
NM_000335.5(SCN5A):c.5382_5384dup (p.Tyr1794_Glu1795insAsp) rs397514449
NM_000335.5(SCN5A):c.5383G>T (p.Glu1795Ter) rs1553692734
NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs) rs1060501127
NM_000335.5(SCN5A):c.5417dup (p.Phe1807fs)
NM_000335.5(SCN5A):c.5425G>T (p.Glu1809Ter) rs1060501145
NM_000335.5(SCN5A):c.5443_5446del (p.Asp1815fs) rs2125825662
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.5491del (p.Gln1831fs) rs2061020838
NM_000335.5(SCN5A):c.5587G>T (p.Glu1863Ter) rs1060501129
NM_000335.5(SCN5A):c.5723A>G (p.Gln1908Arg) rs199473326
NM_000335.5(SCN5A):c.576del (p.Trp193fs) rs2062303387
NM_000335.5(SCN5A):c.578G>A (p.Trp193Ter) rs2125920971
NM_000335.5(SCN5A):c.57del (p.Glu19fs) rs794728902
NM_000335.5(SCN5A):c.589G>C (p.Asp197His) rs1553605667
NM_000335.5(SCN5A):c.590A>G (p.Asp197Gly) rs1559370502
NM_000335.5(SCN5A):c.596del (p.Ser199fs)
NM_000335.5(SCN5A):c.611+1G>A rs794728843
NM_000335.5(SCN5A):c.622G>T (p.Glu208Ter) rs2062158779
NM_000335.5(SCN5A):c.638G>A (p.Gly213Asp) rs2125914363
NM_000335.5(SCN5A):c.655_656insATTCA (p.Arg219fs)
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter) rs794728849
NM_000335.5(SCN5A):c.674G>C (p.Arg225Pro)
NM_000335.5(SCN5A):c.702del (p.Gly235_Leu236insTer) rs2062156506
NM_000335.5(SCN5A):c.809_812dup (p.Phe272fs) rs2125910371
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_000335.5(SCN5A):c.901del (p.Trp301fs) rs2125910133
NM_000335.5(SCN5A):c.904G>T (p.Glu302Ter) rs1060501136
NM_000335.5(SCN5A):c.934+1G>A rs1320531023
NM_000335.5(SCN5A):c.94C>T (p.Gln32Ter)

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