ClinVar Miner

List of variants reported for Benign familial infantile epilepsy by Neurology Department, Shenzhen Children's Hospital

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.1307T>C (p.Leu436Ser) rs1553569010
NM_001040142.2(SCN2A):c.1737C>G (p.Ser579Arg) rs2105276771
NM_001040142.2(SCN2A):c.2870C>A (p.Thr957Asn) rs2105319167
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.4432C>A (p.Gln1478Lys) rs1553462132
NM_001040142.2(SCN2A):c.4610T>C (p.Ile1537Thr) rs1553463038
NM_001040142.2(SCN2A):c.4835C>G (p.Ala1612Gly) rs2105402019
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln) rs121917752
NM_001040142.2(SCN2A):c.752T>C (p.Val251Ala) rs2105247262

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