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Gene: VHL


VHL
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
Number of variants
(Including filtered: 187)
Number of CNVs
(Including filtered: )
OMIM
VHL
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 49.3 40 z = 0.82
Missense 92.0 77 z = 0.76
LoF 6.0 3 pLI = 0.03
CNV 5.7 3 z = 0.45

Gene summary

(canonical transcript: ENST00000256474)

Mean coverage


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