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SLC47A1

Synonyms
MATE1
External resources
Summary
This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function.

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
4,076
Likely benign
3,712
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SLC47A1 gene.

Phenotype class
Patients in 3billion (%)

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