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Gene: GATA1


GATA1
GATA binding protein 1 (globin transcription factor 1)
Number of variants
(Including filtered: 223)
Number of CNVs
N/A
OMIM
GATA1
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 41.8 50 z = -0.79
Missense 92.0 77 z = 0.77
LoF 5.7 0 pLI = 0.84
CNV nan nan z = nan

Gene summary

(canonical transcript: ENST00000376670)

Mean coverage


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