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DHX40

Synonyms
ARG147, DDX40, PAD
External resources
Summary
This gene encodes a member of the DExH/D box family of ATP-dependent RNA helicases that have an essential role in RNA metabolism. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 17.

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
5,580
Likely benign
719
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on DHX40 gene.

Phenotype class
Patients in 3billion (%)

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