ClinVar Miner

List of variants in gene combination ARX, LOC109610631 reported as pathogenic for ARX-related epileptic encephalopathy

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_139058.2(ARX):c.304_305ins21 (p.?)
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

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