ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 25 by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00008
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00003
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met) rs761917087 0.00001

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