ClinVar Miner

List of variants in gene SCN2A reported by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.1526A>G (p.Lys509Arg) rs796053201 0.00003
NM_001040142.2(SCN2A):c.451C>T (p.Pro151Ser) rs200109956 0.00002
NM_001040142.2(SCN2A):c.1612C>T (p.Arg538Cys) rs775923587 0.00001
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn) rs756493732 0.00001
NM_001040142.2(SCN2A):c.628C>G (p.Leu210Val) rs764647930 0.00001
NM_001040142.2(SCN2A):c.818A>G (p.Asn273Ser) rs1697366709 0.00001
NM_001040142.2(SCN2A):c.1403C>A (p.Ser468Tyr) rs1697690842
NM_001040142.2(SCN2A):c.1450del (p.Ser484fs) rs2105259671
NM_001040142.2(SCN2A):c.1682G>A (p.Ser561Asn) rs1574591292
NM_001040142.2(SCN2A):c.1728C>A (p.Ser576Arg) rs1382196994
NM_001040142.2(SCN2A):c.2197G>A (p.Ala733Thr)
NM_001040142.2(SCN2A):c.2636G>T (p.Gly879Val) rs1559376694
NM_001040142.2(SCN2A):c.2715G>T (p.Lys905Asn)
NM_001040142.2(SCN2A):c.3736dup (p.Asp1246fs) rs1700953301
NM_001040142.2(SCN2A):c.3913dup (p.Leu1305fs) rs1701138696
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.4025T>C (p.Leu1342Pro) rs796053134
NM_001040142.2(SCN2A):c.4192T>A (p.Trp1398Arg)
NM_001040142.2(SCN2A):c.4252G>A (p.Val1418Ile) rs1701232747
NM_001040142.2(SCN2A):c.4466T>G (p.Phe1489Cys) rs1701579531
NM_001040142.2(SCN2A):c.452del (p.Pro151fs) rs1697224468
NM_001040142.2(SCN2A):c.4579T>G (p.Phe1527Val)
NM_001040142.2(SCN2A):c.4596del (p.Phe1533fs)
NM_001040142.2(SCN2A):c.4606A>G (p.Ser1536Gly) rs1701898006
NM_001040142.2(SCN2A):c.4713T>G (p.Ile1571Met)
NM_001040142.2(SCN2A):c.620T>C (p.Phe207Ser) rs1064796691
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln) rs121917752
NM_001040142.2(SCN2A):c.710T>C (p.Ile237Thr)
NM_001040142.2(SCN2A):c.802C>T (p.Gln268Ter) rs1553567936

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