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NUDT3

Synonyms
DIPP, DIPP-1, DIPP1
External resources
Summary
NUDT3 belongs to the MutT, or Nudix, protein family. Nudix proteins act as homeostatic checkpoints at important stages in nucleoside phosphate metabolic pathways, guarding against elevated levels of potentially dangerous intermediates, like 8-oxo-dGTP, which promotes AT-to-CG transversions (Safrany et al., 1998 [PubMed 9822604]).

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
1,997
Likely benign
826
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on NUDT3 gene.

Phenotype class
Patients in 3billion (%)

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