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Gene: PITPNB


PITPNB
phosphatidylinositol transfer protein, beta
Number of variants
(Including filtered: 251)
Number of CNVs
(Including filtered: )
OMIM
PITPNB
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 28.4 25 z = 0.40
Missense 61.7 27 z = 2.16
LoF 11.0 0 pLI = 0.97
CNV 5.4 26 z = -1.74

Gene summary

(canonical transcript: ENST00000335272)

Mean coverage


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