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Gene: AQP3


AQP3
aquaporin 3 (Gill blood group)
Number of variants
(Including filtered: 304)
Number of CNVs
(Including filtered: )
OMIM
AQP3
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 49.5 50 z = -0.05
Missense 100.9 75 z = 1.26
LoF 10.2 2 pLI = 0.50
CNV 3.6 4 z = -0.06

Gene summary

(canonical transcript: ENST00000297991)

Mean coverage