ClinVar Miner

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

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Total variants: 80
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HGVS dbSNP
NM_000335.4(SCN5A):c.100_101CG[1] (p.Gly35fs) rs1131691708
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.1127G>A (p.Arg376His) rs199473101
NM_000335.4(SCN5A):c.1134T>A (p.Tyr378Ter) rs373172185
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.1338+2T>A rs786204839
NM_000335.4(SCN5A):c.1583_1584del (p.Ser528fs) rs794728907
NM_000335.4(SCN5A):c.1711del (p.Ser571fs) rs794728908
NM_000335.4(SCN5A):c.1753del (p.His585fs) rs794728910
NM_000335.4(SCN5A):c.1891-1G>A rs794728858
NM_000335.4(SCN5A):c.1936del (p.Gln646fs) rs727505158
NM_000335.4(SCN5A):c.2023+2T>A rs794728928
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.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.2527A>G (p.Thr843Ala) rs199473165
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.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.3572G>A (p.Trp1191Ter) rs794728931
NM_000335.4(SCN5A):c.3619G>T (p.Glu1207Ter) rs774537241
NM_000335.4(SCN5A):c.3628_3630ATC[1] (p.Ile1211del) rs794728920
NM_000335.4(SCN5A):c.3688G>A (p.Glu1230Lys) rs199473598
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.3880G>A (p.Glu1294Lys) rs199473218
NM_000335.4(SCN5A):c.3961-2_3961del rs794728921
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.3997A>G (p.Ile1333Val) rs199473226
NM_000335.4(SCN5A):c.4032G>A (p.Trp1344Ter) rs199473606
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.4296+6T>C rs794728934
NM_000335.4(SCN5A):c.4370C>A (p.Ser1457Tyr) rs199473253
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.4609_4613dup (p.Cys1538Ter) rs794728945
NM_000335.4(SCN5A):c.467G>A (p.Trp156Ter) rs886041848
NM_000335.4(SCN5A):c.4716C>T (p.Gly1572=) rs754221948
NM_000335.4(SCN5A):c.4780G>A (p.Asp1594Asn) rs137854607
NM_000335.4(SCN5A):c.4810G>C (p.Gly1604Arg) rs794728938
NM_000335.4(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
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.5224G>A (p.Gly1742Arg) rs199473305
NM_000335.4(SCN5A):c.5284G>A (p.Val1762Met) rs199473631
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.5461_5464del (p.Glu1822fs) rs794728924
NM_000335.4(SCN5A):c.5723A>G (p.Gln1908Arg) rs199473326
NM_000335.4(SCN5A):c.57del (p.Glu19fs) rs794728902
NM_000335.4(SCN5A):c.611+1G>A rs794728843
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.904G>T (p.Glu302Ter) rs1060501136

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