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SPDYE1

Synonyms
Ringo1, SPDYB2L2, SPDYE, WBSCR19
External resources
Summary
This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23.

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
26,939
Likely benign
6,745
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SPDYE1 gene.

Phenotype class
Patients in 3billion (%)

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