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Gene: GJB2


GJB2
gap junction protein, beta 2, 26kDa
Number of variants
(Including filtered: 234)
Number of CNVs
(Including filtered: )
OMIM
GJB2
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 44.3 42 z = 0.21
Missense 93.8 115 z = -1.07
LoF 3.7 12 pLI = 0.00
CNV 4.2 0 z = 0.91

Gene summary

(canonical transcript: ENST00000382844)

Mean coverage


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