ClinVar Miner

List of variants reported as likely pathogenic for Developmental and epileptic encephalopathy, 11

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Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.1034+1del
NM_001040142.2(SCN2A):c.1035-7A>G rs558800241
NM_001040142.2(SCN2A):c.1058G>C (p.Cys353Ser) rs1697566111
NM_001040142.2(SCN2A):c.1111delinsTG (p.Ser371fs) rs2467901322
NM_001040142.2(SCN2A):c.1136G>A (p.Arg379His) rs2105255398
NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg) rs776206684
NM_001040142.2(SCN2A):c.1243T>C (p.Tyr415His) rs2467902634
NM_001040142.2(SCN2A):c.1255T>A (p.Leu419Met) rs1697584614
NM_001040142.2(SCN2A):c.1283A>T (p.Tyr428Phe) rs796053182
NM_001040142.2(SCN2A):c.1563_1564del (p.Asp521fs) rs1553569739
NM_001040142.2(SCN2A):c.1570C>T (p.Arg524Ter) rs1553569754
NM_001040142.2(SCN2A):c.1635del (p.Arg545fs) rs2467909264
NM_001040142.2(SCN2A):c.1871dup (p.Asn624fs) rs2467933997
NM_001040142.2(SCN2A):c.1A>T (p.Met1Leu) rs1553564139
NM_001040142.2(SCN2A):c.214G>T (p.Glu72Ter)
NM_001040142.2(SCN2A):c.2187G>A (p.Trp729Ter) rs1553574531
NM_001040142.2(SCN2A):c.2287del (p.Leu763fs) rs2467961957
NM_001040142.2(SCN2A):c.2380G>A (p.Gly794Arg) rs75145688
NM_001040142.2(SCN2A):c.2501G>A (p.Ser834Asn) rs1699364791
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2638G>A (p.Ala880Thr) rs1574641522
NM_001040142.2(SCN2A):c.2638G>T (p.Ala880Ser) rs1574641522
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001040142.2(SCN2A):c.268-2A>T
NM_001040142.2(SCN2A):c.2715G>T (p.Lys905Asn) rs796053119
NM_001040142.2(SCN2A):c.2765G>A (p.Arg922His) rs1057518048
NM_001040142.2(SCN2A):c.2774T>C (p.Met925Thr) rs1057518373
NM_001040142.2(SCN2A):c.2810G>A (p.Arg937His) rs1553579488
NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile) rs796053124
NM_001040142.2(SCN2A):c.2986G>A (p.Asp996Asn) rs2105336868
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.3423_3424delinsCT (p.Glu1142Ter) rs2468061249
NM_001040142.2(SCN2A):c.3626G>A (p.Trp1209Ter) rs1553590305
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001040142.2(SCN2A):c.3839T>C (p.Leu1280Pro) rs2468082494
NM_001040142.2(SCN2A):c.4060dup (p.Met1354fs)
NM_001040142.2(SCN2A):c.4138G>T (p.Val1380Phe)
NM_001040142.2(SCN2A):c.4192T>A (p.Trp1398Arg) rs2468102901
NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala) rs1574716488
NM_001040142.2(SCN2A):c.4295_4297del (p.Val1432del) rs2468114101
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.4418T>A (p.Ile1473Lys)
NM_001040142.2(SCN2A):c.4426T>A (p.Phe1476Ile) rs2468126672
NM_001040142.2(SCN2A):c.4435C>A (p.Gln1479Lys) rs1553462134
NM_001040142.2(SCN2A):c.4437G>C (p.Gln1479His) rs2105384764
NM_001040142.2(SCN2A):c.4439A>G (p.Lys1480Arg) rs1574731380
NM_001040142.2(SCN2A):c.4466T>G (p.Phe1489Cys) rs1701579531
NM_001040142.2(SCN2A):c.4481A>G (p.Gln1494Arg) rs1432208282
NM_001040142.2(SCN2A):c.4492del (p.Tyr1498fs) rs2468129590
NM_001040142.2(SCN2A):c.4493A>C (p.Tyr1498Ser) rs1558879863
NM_001040142.2(SCN2A):c.4494C>G (p.Tyr1498Ter) rs2468129607
NM_001040142.2(SCN2A):c.4499C>T (p.Ala1500Val) rs2468129644
NM_001040142.2(SCN2A):c.4501A>G (p.Met1501Val) rs2105385817
NM_001040142.2(SCN2A):c.4514del (p.Gly1505fs) rs1701581960
NM_001040142.2(SCN2A):c.4551+5G>A rs2468129879
NM_001040142.2(SCN2A):c.4579_4602del (p.Phe1527_Asp1534del) rs2105398203
NM_001040142.2(SCN2A):c.4596del (p.Phe1533fs) rs2468149427
NM_001040142.2(SCN2A):c.4622T>A (p.Ile1541Asn) rs2468149509
NM_001040142.2(SCN2A):c.4644G>C (p.Met1548Ile) rs1574746759
NM_001040142.2(SCN2A):c.4841T>C (p.Leu1614Pro) rs797045943
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His) rs796053157
NM_001040142.2(SCN2A):c.4895G>T (p.Arg1632Met) rs796053158
NM_001040142.2(SCN2A):c.4918A>T (p.Ile1640Phe) rs1702006673
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val) rs1060503101
NM_001040142.2(SCN2A):c.4980_4983del (p.Phe1661fs) rs1558885691
NM_001040142.2(SCN2A):c.4989del (p.Ile1663fs) rs1702009872
NM_001040142.2(SCN2A):c.5308A>C (p.Met1770Leu) rs1553463594
NM_001040142.2(SCN2A):c.5311T>A (p.Tyr1771Asn) rs2468158869
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.5318C>A (p.Ala1773Glu) rs1553463602
NM_001040142.2(SCN2A):c.5408A>G (p.Glu1803Gly) rs2468159089
NM_001040142.2(SCN2A):c.5616G>C (p.Met1872Ile) rs2468159814
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr) rs2105403536
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val) rs1553567409
NM_001040142.2(SCN2A):c.647T>C (p.Leu216Ser) rs796053203
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln) rs121917752
NM_001040142.2(SCN2A):c.710T>C (p.Ile237Thr) rs1697360061
NM_001040142.2(SCN2A):c.751G>A (p.Val251Ile) rs1057519528
NM_001040142.2(SCN2A):c.785T>C (p.Phe262Ser) rs1697364805
NM_001040142.2(SCN2A):c.788C>A (p.Ala263Glu) rs387906686
NM_001040142.2(SCN2A):c.819C>A (p.Asn273Lys) rs2467890450
NM_001040142.2(SCN2A):c.971-1G>A rs2105251415

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