ClinVar Miner

List of variants in gene SCN2A reported as pathogenic by Invitae

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Total variants: 25
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HGVS dbSNP
NC_000002.11:g.(?_166221633)_(166246354_?)del
NM_001040142.2(SCN2A):c.1147C>G (p.Gln383Glu) rs796053178
NM_001040142.2(SCN2A):c.1198dup (p.Thr400fs) rs1553568927
NM_001040142.2(SCN2A):c.1342C>T (p.Gln448Ter) rs1553569054
NM_001040142.2(SCN2A):c.1529_1532AGAA[1] (p.Lys511fs) rs1553569662
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter) rs1553579225
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001040142.2(SCN2A):c.2877C>A (p.Cys959Ter) rs746163041
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.3036del (p.Gly1013fs) rs1553583659
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001040142.2(SCN2A):c.4270dup (p.Trp1424fs) rs1553461662
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.4350T>G (p.Tyr1450Ter)
NM_001040142.2(SCN2A):c.4876C>T (p.Arg1626Ter) rs1060503102
NM_001040142.2(SCN2A):c.4879G>A (p.Val1627Met) rs796053156
NM_001040142.2(SCN2A):c.4886G>T (p.Arg1629Leu)
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val) rs1060503101
NM_001040142.2(SCN2A):c.5316del (p.Ile1772fs) rs1558886168
NM_001040142.2(SCN2A):c.647T>G (p.Leu216Trp) rs796053203
NM_001040142.2(SCN2A):c.658A>G (p.Arg220Gly) rs1559352550
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln) rs121917752
NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter) rs181327458
NM_021007.2(SCN2A):c.961_970del (p.Glu321Valfs) rs1559353540

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