ClinVar Miner

List of variants reported as likely pathogenic for Lissencephaly 2, X-linked

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Total variants: 3
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HGVS dbSNP
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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