ClinVar Miner

List of variants reported as pathogenic for ARX-related epileptic encephalopathy

Included ClinVar conditions (4):
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Total variants: 29
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HGVS dbSNP
ARX, 32-BP DEL, NT420
ARX, EX1-2DEL
NM_139058.2(ARX):c.1120-82_1469dup
NM_139058.2(ARX):c.304_305ins21 (p.?)
NM_139058.3(ARX):c.1028T>A (p.Leu343Gln) rs104894741
NM_139058.3(ARX):c.1096del (p.Asp366fs) rs797045289
NM_139058.3(ARX):c.1117C>T (p.Gln373Ter) rs104894740
NM_139058.3(ARX):c.1141del (p.Ala381fs) rs1556049694
NM_139058.3(ARX):c.1164_1165insCAAAG (p.Ala389fs) rs797045290
NM_139058.3(ARX):c.1187dup (p.Gly397fs) rs1328291159
NM_139058.3(ARX):c.1337dup (p.Pro447fs) rs797045291
NM_139058.3(ARX):c.1372del (p.Ala458fs) rs587783187
NM_139058.3(ARX):c.1414C>T (p.Arg472Ter) rs587783189
NM_139058.3(ARX):c.1449-82_1469dup rs1556046904
NM_139058.3(ARX):c.1465del (p.Ala489fs) rs587783191
NM_139058.3(ARX):c.1471dup (p.Leu491fs) rs797045292
NM_139058.3(ARX):c.232G>T (p.Glu78Ter) rs267606666
NM_139058.3(ARX):c.306_308GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_139058.3(ARX):c.306_308GGC[18] (p.Ala108_Ala115dup) rs387906492
NM_139058.3(ARX):c.335_368del (p.Ala112fs) rs587783199
NM_139058.3(ARX):c.409dup (p.Glu137fs) rs797045298
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup) rs387906493
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup) rs398124510
NM_139058.3(ARX):c.562_563delinsTA (p.Ala188Ter) rs797045303
NM_139058.3(ARX):c.617del (p.Gly206fs) rs587783202
NM_139058.3(ARX):c.790del (p.Arg264fs) rs886043552
NM_139058.3(ARX):c.995G>A (p.Arg332His) rs111033612
NM_139058.3(ARX):c.995G>T (p.Arg332Leu) rs111033612
NM_139058.3(ARX):c.998C>A (p.Thr333Asn) rs104894745

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