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Gene: PITX2


PITX2
paired-like homeodomain 2
Number of variants
(Including filtered: 314)
Number of CNVs
(Including filtered: )
OMIM
PITX2
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 81.2 52 z = 2.01
Missense 144.6 69 z = 3.07
LoF 7.6 1 pLI = 0.67
CNV 3.7 2 z = 0.33

Gene summary

(canonical transcript: ENST00000306732)

Mean coverage


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