ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 11 by OMIM

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu) rs796053180
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter) rs387906683
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln) rs121917753
NM_001040142.2(SCN2A):c.4419A>G (p.Ile1473Met) rs387906685
NM_001040142.2(SCN2A):c.4864C>T (p.Pro1622Ser) rs2468157284
NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro) rs1702008435
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686

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