ClinVar Miner

List of variants reported as likely pathogenic for ARX-related encephalopathy-brain malformation spectrum

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_139058.3(ARX):c.1121T>A (p.Val374Asp) rs587783183
NM_139058.3(ARX):c.1134C>A (p.Asn378Lys) rs587783184
NM_139058.3(ARX):c.426_461dup (p.Gly143_Ala154dup) rs1556056131

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