ClinVar Miner

List of variants reported for Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 by Fulgent Genetics, Fulgent Genetics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.1712G>A (p.Arg571His) rs138138150 0.00013
NM_001040142.2(SCN2A):c.1901T>C (p.Val634Ala) rs756119996 0.00001
NM_001040142.2(SCN2A):c.3190G>T (p.Asp1064Tyr) rs769395683 0.00001
NM_001040142.2(SCN2A):c.106A>G (p.Arg36Gly) rs796053167
NM_001040142.2(SCN2A):c.1385C>T (p.Ala462Val) rs769825203
NM_001040142.2(SCN2A):c.1861C>T (p.Arg621Cys) rs796053205
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2809C>T (p.Arg937Cys) rs796053197
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.4246C>T (p.Leu1416Phe) rs1559399522

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