ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 1 by Mendelics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_016373.4(WWOX):c.*187_*190dup rs1597489135
NM_016373.4(WWOX):c.107+1G>A rs1300924648
NM_016373.4(WWOX):c.136C>T (p.His46Tyr) rs1597207871
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr) rs11545029
NM_016373.4(WWOX):c.705dup (p.His236fs) rs1597216056
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) rs104894746
NM_139058.3(ARX):c.1369_1391del (p.Gly457fs) rs1601946502
NM_139058.3(ARX):c.1414_1428del (p.Arg472_Phe476del) rs1601946492
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup) rs387906492

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