ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
ARX, 32-BP DEL, NT420
ARX, EX1-2DEL
NM_139058.3(ARX):c.1028T>A (p.Leu343Gln) rs104894741
NM_139058.3(ARX):c.1117C>T (p.Gln373Ter) rs104894740
NM_139058.3(ARX):c.1187dup (p.Gly397fs) rs1328291159
NM_139058.3(ARX):c.1372del (p.Ala458fs) rs587783187
NM_139058.3(ARX):c.232G>T (p.Glu78Ter) rs267606666
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup) rs387906493
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.998C>A (p.Thr333Asn) rs104894745

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