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LHX2

Synonyms
LH2, hLhx2
External resources
Summary
This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator. The protein can recapitulate or rescue phenotypes in Drosophila caused by a related protein, suggesting conservation of function during evolution.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,295
Likely benign
233
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on LHX2 gene.

Phenotype class
Patients in 3billion (%)

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