ClinVar Miner

List of variants studied for Infantile spasms by Department of Neurology, Children’s Hospital of Chongqing Medical University

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.2810G>A (p.Arg937His) rs1553579488
NM_001040142.2(SCN2A):c.2815C>G (p.Leu939Val)
NM_001040142.2(SCN2A):c.3945A>T (p.Arg1315Ser)
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686

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