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Gene: HBB


HBB
hemoglobin, beta
Number of variants
(Including filtered: 412)
Number of CNVs
(Including filtered: )
OMIM
HBB
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 23.0 40 z = -2.19
Missense 44.1 55 z = -0.80
LoF 3.3 9 pLI = 0.00
CNV 4.8 90 z = -3.68

Gene summary

(canonical transcript: ENST00000335295)

Mean coverage


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