ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 63 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met) rs371709824 0.00009
NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter) rs1553851860

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