ClinVar Miner

List of variants in gene SCN2A reported as pathogenic for Complex neurodevelopmental disorder

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Gene type:
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.1027G>C (p.Asp343His) rs796053175
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.167T>A (p.Leu56Ter) rs1553564213
NM_001040142.2(SCN2A):c.2388+1G>A rs1698674881
NM_001040142.2(SCN2A):c.252C>A (p.Tyr84Ter) rs143065769
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.2645G>A (p.Gly882Glu) rs1553579305
NM_001040142.2(SCN2A):c.2809C>T (p.Arg937Cys) rs796053197
NM_001040142.2(SCN2A):c.2877C>A (p.Cys959Ter) rs746163041
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.3374del (p.Glu1125fs) rs587780450
NM_001040142.2(SCN2A):c.3391del (p.Ser1131fs) rs1064796203
NM_001040142.2(SCN2A):c.3464_3468del (p.Glu1155fs) rs1574691534
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.4308+1G>A rs886039648
NM_001040142.2(SCN2A):c.4308+2T>C rs1553461672
NM_001040142.2(SCN2A):c.4406_4409delinsATGT (p.Ile1469_Gly1470delinsAsnVal) rs1701554261
NM_001040142.2(SCN2A):c.4494del (p.Tyr1497_Tyr1498insTer) rs1553462224
NM_001040142.2(SCN2A):c.4591C>T (p.Gln1531Ter) rs1553463032
NM_001040142.2(SCN2A):c.4726G>A (p.Gly1576Arg) rs869312664
NM_001040142.2(SCN2A):c.4727del (p.Gly1576fs) rs1553463096
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
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.5623C>T (p.Leu1875Phe) rs1553463764
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.605+1G>A
NM_001040142.2(SCN2A):c.605+1G>T rs796053171
NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter) rs181327458

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