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Gene: SP5


SP5
Sp5 transcription factor
Number of variants
(Including filtered: 298)
Number of CNVs
N/A
OMIM
SP5
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 127.7 65 z = 3.44
Missense 189.0 109 z = 2.85
LoF 5.1 1 pLI = 0.43
CNV nan nan z = nan

Gene summary

(canonical transcript: ENST00000375281)

Mean coverage


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