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SMUG1

Synonyms
FDG, HMUDG, UNG3
External resources
Summary
This gene encodes a protein that participates in base excision repair by removing uracil from single- and double-stranded DNA. Many alternatively spliced transcript variants exist for this gene; the full-length nature is known for some but not all of the variants.

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
443
Likely benign
378
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SMUG1 gene.

Phenotype class
Patients in 3billion (%)

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