ClinVar Miner

List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 1

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu) rs142500730 0.00001
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001165963.4(SCN1A):c.126_128delinsCC (p.Lys42fs) rs2105983330
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_006516.4(SLC2A1):c.197_198delinsAA (p.Ser66Ter)
NM_016373.4(WWOX):c.107+1G>A rs1300924648
NM_016373.4(WWOX):c.705dup (p.His236fs) rs1597216056
NM_139058.3(ARX):c.1002_1007delinsTGTACCA (p.Phe335fs) rs869312662
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu) rs104894743
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.1430del (p.Ile477fs)
NM_139058.3(ARX):c.1449-816_*460del
NM_139058.3(ARX):c.1465del (p.Ala489fs) rs587783191
NM_139058.3(ARX):c.1472del (p.Leu491fs) rs2147318790
NM_139058.3(ARX):c.1604T>A (p.Leu535Gln) rs387906715
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup) rs1365611175
NM_139058.3(ARX):c.370G>T (p.Glu124Ter) rs2147324296
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup) rs387906493
NM_139058.3(ARX):c.435_461dup (p.Ala147_Ala155dup) rs1556056125
NM_139058.3(ARX):c.451_464del (p.Ala151fs)
NM_139058.3(ARX):c.457del (p.Ala153fs)
NM_139058.3(ARX):c.81C>G (p.Tyr27Ter) rs398122854
NM_152221.3(CSNK1E):c.885+1G>A rs1569077009
NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile) rs2080906453
NM_172107.4(KCNQ2):c.1160del (p.Pro387fs) rs796052657
NM_172107.4(KCNQ2):c.286C>A (p.His96Asn) rs2082232988

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