ClinVar Miner

List of variants in gene SCN2A reported as uncertain significance for Inborn genetic diseases

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Total variants: 8
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HGVS dbSNP
NM_001040142.2(SCN2A):c.101C>T (p.Ala34Val) rs1553564177
NM_001040142.2(SCN2A):c.3637T>G (p.Phe1213Val) rs797044946
NM_001040142.2(SCN2A):c.3726A>T (p.Leu1242Phe) rs1553591763
NM_001040142.2(SCN2A):c.3734C>T (p.Ala1245Val) rs768796023
NM_001040142.2(SCN2A):c.4940G>A (p.Arg1647His) rs797044927
NM_001040142.2(SCN2A):c.4996C>T (p.Leu1666Phe) rs1553463466
NM_001040142.2(SCN2A):c.5274T>A (p.Ser1758Arg) rs1553463586
NM_001040142.2(SCN2A):c.606-125G>T rs1553567488

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