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Gene: PHOX2B


PHOX2B
paired-like homeobox 2b
Number of variants
(Including filtered: 261)
Number of CNVs
(Including filtered: )
OMIM
PHOX2B
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 97.1 64 z = 2.08
Missense 155.6 55 z = 3.94
LoF 6.0 0 pLI = 0.85
CNV 2.5 0 z = 0.60

Gene summary

(canonical transcript: ENST00000226382)

Mean coverage


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