ClinVar Miner

List of variants in gene SCN2A reported by GenomeConnect - Simons Searchlight

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Gene type:
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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423 0.00032
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756 0.00011
NM_001040142.2(SCN2A):c.1027G>C (p.Asp343His) rs796053175
NM_001040142.2(SCN2A):c.106A>G (p.Arg36Gly) rs796053167
NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg)
NM_001040142.2(SCN2A):c.1283A>G (p.Tyr428Cys) rs796053182
NM_001040142.2(SCN2A):c.1289A>C (p.Glu430Ala) rs796053183
NM_001040142.2(SCN2A):c.1456_1457del (p.Ser486fs) rs1697695664
NM_001040142.2(SCN2A):c.1528C>T (p.Gln510Ter) rs1553569659
NM_001040142.2(SCN2A):c.167T>A (p.Leu56Ter) rs1553564213
NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter) rs746060762
NM_001040142.2(SCN2A):c.2134A>T (p.Thr712Ser) rs1698389721
NM_001040142.2(SCN2A):c.2388+1G>A rs1698674881
NM_001040142.2(SCN2A):c.252C>A (p.Tyr84Ter) rs143065769
NM_001040142.2(SCN2A):c.2538G>T (p.Leu846Phe) rs1699366355
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2567G>A (p.Arg856Gln) rs797045942
NM_001040142.2(SCN2A):c.2622_2631del (p.Ile874fs) rs1064793850
NM_001040142.2(SCN2A):c.2635G>A (p.Gly879Arg) rs796053115
NM_001040142.2(SCN2A):c.2638G>T (p.Ala880Ser) rs1574641522
NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro) rs796053116
NM_001040142.2(SCN2A):c.2645G>A (p.Gly882Glu) rs1553579305
NM_001040142.2(SCN2A):c.2809C>T (p.Arg937Cys) rs796053197
NM_001040142.2(SCN2A):c.2852T>G (p.Met951Arg) rs1218362168
NM_001040142.2(SCN2A):c.2877C>A (p.Cys959Ter) rs746163041
NM_001040142.2(SCN2A):c.2894T>G (p.Met965Arg) rs1699489239
NM_001040142.2(SCN2A):c.2932T>C (p.Phe978Leu) rs1700068946
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter) rs387906683
NM_001040142.2(SCN2A):c.3107_3108delinsG (p.Leu1036fs) rs1700077715
NM_001040142.2(SCN2A):c.3149A>T (p.Asp1050Val) rs1700079624
NM_001040142.2(SCN2A):c.3217G>T (p.Gly1073Ter) rs1553584053
NM_001040142.2(SCN2A):c.3374del (p.Glu1125fs) rs587780450
NM_001040142.2(SCN2A):c.3391del (p.Ser1131fs) rs1064796203
NM_001040142.2(SCN2A):c.3399G>C (p.Glu1133Asp) rs1700091023
NM_001040142.2(SCN2A):c.3464_3468del (p.Glu1155fs) rs1574691534
NM_001040142.2(SCN2A):c.3734C>T (p.Ala1245Val) rs768796023
NM_001040142.2(SCN2A):c.3778A>C (p.Lys1260Gln) rs1553591813
NM_001040142.2(SCN2A):c.3778A>G (p.Lys1260Glu) rs1553591813
NM_001040142.2(SCN2A):c.386+2T>C rs1553564400
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu) rs121917753
NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala) rs1574716488
NM_001040142.2(SCN2A):c.4264A>G (p.Lys1422Glu) rs796053137
NM_001040142.2(SCN2A):c.4308+1G>A rs886039648
NM_001040142.2(SCN2A):c.4308+2T>C rs1553461672
NM_001040142.2(SCN2A):c.4369ATT[1] (p.Ile1458del) rs796053193
NM_001040142.2(SCN2A):c.4406_4409delinsATGT (p.Ile1469_Gly1470delinsAsnVal) rs1701554261
NM_001040142.2(SCN2A):c.4489TAC[1] (p.Tyr1498del) rs1701580892
NM_001040142.2(SCN2A):c.4494del (p.Tyr1497_Tyr1498insTer) rs1553462224
NM_001040142.2(SCN2A):c.4502T>C (p.Met1501Thr) rs1553462227
NM_001040142.2(SCN2A):c.4506A>T (p.Lys1502Asn) rs1701581615
NM_001040142.2(SCN2A):c.4591C>T (p.Gln1531Ter) rs1553463032
NM_001040142.2(SCN2A):c.4610_4614delinsGCATC (p.Ile1537_Met1538delinsSerIle) rs796053195
NM_001040142.2(SCN2A):c.4726G>A (p.Gly1576Arg) rs869312664
NM_001040142.2(SCN2A):c.4727del (p.Gly1576fs) rs1553463096
NM_001040142.2(SCN2A):c.4777G>A (p.Gly1593Arg) rs886041259
NM_001040142.2(SCN2A):c.4801G>T (p.Val1601Leu) rs1553463140
NM_001040142.2(SCN2A):c.4844_4845del (p.Ile1615fs) rs1574751309
NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln) rs796053155
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001040142.2(SCN2A):c.4896_4897insT (p.Ile1633fs) rs1702004667
NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln) rs1057520844
NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro) rs1702008435
NM_001040142.2(SCN2A):c.4972C>T (p.Pro1658Ser) rs1702009188
NM_001040142.2(SCN2A):c.4984A>G (p.Asn1662Asp) rs1702009644
NM_001040142.2(SCN2A):c.4996C>T (p.Leu1666Phe) rs1553463466
NM_001040142.2(SCN2A):c.5272A>C (p.Ser1758Arg) rs1064794005
NM_001040142.2(SCN2A):c.5318C>A (p.Ala1773Glu) rs1553463602
NM_001040142.2(SCN2A):c.5318C>T (p.Ala1773Val) rs1553463602
NM_001040142.2(SCN2A):c.5333A>T (p.Asn1778Ile) rs1574752700
NM_001040142.2(SCN2A):c.5339G>T (p.Ser1780Ile) rs796053163
NM_001040142.2(SCN2A):c.5551C>T (p.Arg1851Trp) rs1553463718
NM_001040142.2(SCN2A):c.5623C>T (p.Leu1875Phe) rs1553463764
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.593T>A (p.Val198Asp) rs1697272829
NM_001040142.2(SCN2A):c.605+1G>A
NM_001040142.2(SCN2A):c.605+1G>T rs796053171
NM_001040142.2(SCN2A):c.632G>A (p.Gly211Asp) rs1697311700
NM_001040142.2(SCN2A):c.710T>A (p.Ile237Asn) rs1697360061
NM_001040142.2(SCN2A):c.716G>T (p.Gly239Val) rs1697360374
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter) rs181327458
NM_001371246.1(SCN2A):c.647T>A (p.Leu216His) rs1697299021

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