ClinVar Miner

List of variants reported as likely pathogenic for Epileptic encephalopathy by Laboratory of Molecular Genetics, CHU Rennes

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.1082C>T (p.Thr361Ile) rs1057518985
NM_005660.3(SLC35A2):c.500_509del (p.Leu167fs) rs1057519000

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