ClinVar Miner

List of variants in gene SCN2A studied for See cases

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.1612C>T (p.Arg538Cys) rs775923587 0.00001
GRCh37/hg19 2q24.3(chr2:166094617-166246621)x3
GRCh37/hg19 2q24.3(chr2:166175328-166219034)x1
NM_001040142.2(SCN2A):c.1940del (p.Ala647fs) rs2105277203
NM_001040142.2(SCN2A):c.2281G>T (p.Val761Phe) rs2105293473
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter) rs1553578503
NM_001040142.2(SCN2A):c.2672T>A (p.Ile891Asn) rs2105318815
NM_001040142.2(SCN2A):c.3711del (p.Ile1238fs) rs2105365149
NM_001040142.2(SCN2A):c.4297G>T (p.Asp1433Tyr) rs2105378514
NM_001040142.2(SCN2A):c.5512C>G (p.Gln1838Glu) rs2105403284
NM_001040142.2(SCN2A):c.644C>A (p.Ala215Glu) rs149024364
NM_001040142.2(SCN2A):c.986dup (p.Leu329fs) rs2105251438

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