ClinVar Miner

List of variants in gene SCN2A reported as uncertain significance by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Gene type:
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.4461C>A (p.Asp1487Glu) rs1553462203
NM_001040142.2(SCN2A):c.4732T>G (p.Cys1578Gly) rs1701904705
NM_001040142.2(SCN2A):c.4832T>C (p.Leu1611Pro) rs1701999328
NM_001371246.1(SCN2A):c.623T>C (p.Val208Ala) rs1697298069

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