ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 35 by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_033453.4(ITPA):c.452G>A (p.Trp151Ter) rs200086262 0.00001
NM_033453.4(ITPA):c.532C>T (p.Arg178Cys) rs746930990 0.00001
NM_033453.4(ITPA):c.264-607_295+1267del
NM_033453.4(ITPA):c.359_366dup (p.Gly123fs) rs1407446171

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