ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 39 by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003705.5(SLC25A12):c.1769A>G (p.Gln590Arg) rs121434396 0.00001
NM_003705.5(SLC25A12):c.1058G>A (p.Arg353Gln) rs886037851
NM_003705.5(SLC25A12):c.1295C>T (p.Ala432Val)
NM_003705.5(SLC25A12):c.1447-2_1447-1del

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