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Gene: SAP30


SAP30
Sin3A-associated protein, 30kDa
Number of variants
(Including filtered: 183)
Number of CNVs
(Including filtered: )
OMIM
SAP30
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 52.4 24 z = 2.43
Missense 86.9 54 z = 1.73
LoF 7.0 2 pLI = 0.23
CNV 5.9 2 z = 0.67

Gene summary

(canonical transcript: ENST00000296504)

Mean coverage


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