ClinVar Miner

List of variants in gene SCN2A reported as likely pathogenic for Seizures, benign familial infantile, 3

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.628C>G (p.Leu210Val) rs764647930 0.00001
NC_000002.11:g.(?_166152283)_(166246384_?)dup
NM_001040142.2(SCN2A):c.121C>T (p.Arg41Cys) rs747086776
NM_001040142.2(SCN2A):c.1384-2A>G rs1574571769
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter) rs1553579225
NM_001040142.2(SCN2A):c.2659G>C (p.Val887Leu) rs1574641605
NM_001040142.2(SCN2A):c.3664A>C (p.Ser1222Arg) rs1574697769
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln) rs121917753
NM_001040142.2(SCN2A):c.4008del (p.Ile1337fs)
NM_001040142.2(SCN2A):c.4216G>T (p.Asp1406Tyr)
NM_001040142.2(SCN2A):c.4243C>A (p.Leu1415Ile) rs1574716524
NM_001040142.2(SCN2A):c.4379G>A (p.Gly1460Asp) rs2468126518
NM_001040142.2(SCN2A):c.4635G>C (p.Met1545Ile) rs1574746733
NM_001040142.2(SCN2A):c.4635G>T (p.Met1545Ile) rs1574746733
NM_001040142.2(SCN2A):c.4688T>G (p.Leu1563Arg) rs1574746935
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys) rs1553463119
NM_001040142.2(SCN2A):c.4801G>A (p.Val1601Met) rs1553463140
NM_001040142.2(SCN2A):c.4879G>C (p.Val1627Leu)
NM_001040142.2(SCN2A):c.4946T>C (p.Leu1649Pro) rs1702008208
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val) rs1060503101
NM_001040142.2(SCN2A):c.5117G>C (p.Cys1706Ser) rs1553463513
NM_001040142.2(SCN2A):c.5131A>G (p.Thr1711Ala) rs2468158340
NM_001040142.2(SCN2A):c.5333A>T (p.Asn1778Ile) rs1574752700
NM_001040142.2(SCN2A):c.5551C>T (p.Arg1851Trp) rs1553463718
NM_001040142.2(SCN2A):c.5918C>G (p.Pro1973Arg) rs1574754680
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val) rs1553567409
NM_001040142.2(SCN2A):c.620T>C (p.Phe207Ser) rs1064796691
NM_001040142.2(SCN2A):c.638T>C (p.Val213Ala) rs1574556643

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