ClinVar Miner

List of variants in gene SCN2A reported by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.3259G>A (p.Val1087Met) rs765278777 0.00002
NM_001040142.2(SCN2A):c.2236T>G (p.Leu746Val) rs772195737 0.00001
NM_001040142.2(SCN2A):c.1831_1832del (p.Leu611fs) rs1698166561
NM_001040142.2(SCN2A):c.2177C>T (p.Pro726Leu) rs867268264
NM_001040142.2(SCN2A):c.2620A>G (p.Ile874Val) rs1699475919
NM_001040142.2(SCN2A):c.2950A>C (p.Ser984Arg) rs1700069881
NM_001040142.2(SCN2A):c.408G>A (p.Met136Ile) rs1697221269
NM_001040142.2(SCN2A):c.4345A>C (p.Met1449Leu)
NM_001040142.2(SCN2A):c.466A>C (p.Lys156Gln) rs1553567130
NM_001040142.2(SCN2A):c.709_711delinsTTG (p.Ile237Leu) rs1559353139
NM_001040142.2(SCN2A):c.746C>T (p.Ser249Phe) rs1559353186
NM_001040142.2(SCN2A):c.811A>G (p.Met271Val) rs1553567946

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