ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 71 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014905.5(GLS):c.241C>T (p.Gln81Ter) rs1559310284
NM_014905.5(GLS):c.695dup (p.Asp232fs) rs1558971345
NM_014905.5(GLS):c.815G>A (p.Arg272Lys) rs1558972120

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