ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 1 by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_016373.4(WWOX):c.173-6T>G rs200812468 0.00004
NM_001165963.4(SCN1A):c.126_128delinsCC (p.Lys42fs) rs2105983330
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_003705.5(SLC25A12):c.1490T>A (p.Ile497Asn) rs2105837590
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) rs786205232
NM_004974.4(KCNA2):c.906T>G (p.Phe302Leu) rs764822052
NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile) rs2080906453
NM_172107.4(KCNQ2):c.1160del (p.Pro387fs) rs796052657
NM_172107.4(KCNQ2):c.286C>A (p.His96Asn) rs2082232988
NM_172107.4(KCNQ2):c.787A>G (p.Thr263Ala) rs2081188385

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