ClinVar Miner

List of variants in gene ARX reported as pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.1129del (p.Gln377fs) rs1601946658
NM_139058.3(ARX):c.1141G>A (p.Ala381Thr) rs587783096
NM_139058.3(ARX):c.1593_1599dup (p.Ala534fs) rs1057517705
NM_139058.3(ARX):c.980_983del (p.Lys327fs) rs398124520

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