ClinVar Miner

List of variants in gene SCN2A reported as not provided for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216 0.00027
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594 0.00016
NM_001040142.2(SCN2A):c.1712G>A (p.Arg571His) rs138138150 0.00013
NM_001040142.2(SCN2A):c.562C>T (p.Arg188Trp) rs121917748 0.00002
NM_001040142.2(SCN2A):c.2695G>A (p.Gly899Ser) rs796053120 0.00001
NM_001040142.2(SCN2A):c.1136G>A (p.Arg379His) rs2105255398
NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu) rs796053180
NM_001040142.2(SCN2A):c.1280C>A (p.Ala427Asp) rs587780448
NM_001040142.2(SCN2A):c.1289A>C (p.Glu430Ala) rs796053183
NM_001040142.2(SCN2A):c.208C>G (p.Pro70Ala)
NM_001040142.2(SCN2A):c.2318C>T (p.Thr773Ile)
NM_001040142.2(SCN2A):c.2447A>T (p.Tyr816Phe) rs2105314804
NM_001040142.2(SCN2A):c.245A>G (p.Asp82Gly)
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
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.2722A>G (p.Lys908Glu) rs796053122
NM_001040142.2(SCN2A):c.2767T>C (p.Trp923Arg) rs1057524573
NM_001040142.2(SCN2A):c.2810G>A (p.Arg937His) rs1553579488
NM_001040142.2(SCN2A):c.2932T>C (p.Phe978Leu) rs1700068946
NM_001040142.2(SCN2A):c.2990A>G (p.Asp997Gly) rs1057523786
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.3149A>T (p.Asp1050Val) rs1700079624
NM_001040142.2(SCN2A):c.34G>A (p.Asp12Asn)
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001040142.2(SCN2A):c.3671_3674dup (p.Ala1226fs)
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.3935G>C (p.Arg1312Thr)
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu) rs121917753
NM_001040142.2(SCN2A):c.3988C>T (p.Leu1330Phe) rs121917749
NM_001040142.2(SCN2A):c.4007C>A (p.Ser1336Tyr)
NM_001040142.2(SCN2A):c.4015A>G (p.Asn1339Asp) rs2105373027
NM_001040142.2(SCN2A):c.4025T>C (p.Leu1342Pro) rs796053134
NM_001040142.2(SCN2A):c.4156T>C (p.Cys1386Arg)
NM_001040142.2(SCN2A):c.4259C>T (p.Thr1420Met)
NM_001040142.2(SCN2A):c.4264A>G (p.Lys1422Glu) rs796053137
NM_001040142.2(SCN2A):c.4419A>G (p.Ile1473Met) rs387906685
NM_001040142.2(SCN2A):c.4436A>C (p.Gln1479Pro)
NM_001040142.2(SCN2A):c.4610T>C (p.Ile1537Thr) rs1553463038
NM_001040142.2(SCN2A):c.4614G>C (p.Met1538Ile) rs1553463042
NM_001040142.2(SCN2A):c.4687C>G (p.Leu1563Val) rs121917750
NM_001040142.2(SCN2A):c.4712T>C (p.Ile1571Thr) rs2105398463
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys) rs1553463119
NM_001040142.2(SCN2A):c.4791T>A (p.Phe1597Leu)
NM_001040142.2(SCN2A):c.4801G>T (p.Val1601Leu) rs1553463140
NM_001040142.2(SCN2A):c.4864C>T (p.Pro1622Ser)
NM_001040142.2(SCN2A):c.4868C>A (p.Thr1623Asn) rs1702001950
NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln) rs796053155
NM_001040142.2(SCN2A):c.4972C>T (p.Pro1658Ser) rs1702009188
NM_001040142.2(SCN2A):c.5274T>G (p.Ser1758Arg)
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.5339G>T (p.Ser1780Ile) rs796053163
NM_001040142.2(SCN2A):c.5408A>G (p.Glu1803Gly)
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr) rs2105403536
NM_001040142.2(SCN2A):c.5638G>A (p.Glu1880Lys) rs1553463772
NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly) rs796053166
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.5645G>T (p.Arg1882Leu) rs794727444
NM_001040142.2(SCN2A):c.593T>A (p.Val198Asp) rs1697272829
NM_001040142.2(SCN2A):c.623T>A (p.Val208Glu)
NM_001040142.2(SCN2A):c.632G>A (p.Gly211Asp) rs1697311700
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln) rs121917752
NM_001040142.2(SCN2A):c.707C>G (p.Thr236Ser) rs2105247122
NM_001040142.2(SCN2A):c.754A>G (p.Met252Val) rs387906687
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met) rs1057520413
NM_001040142.2(SCN2A):c.787G>A (p.Ala263Thr) rs1697364931

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