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Gene: CHCHD7


CHCHD7
coiled-coil-helix-coiled-coil-helix domain containing 7
Number of variants
(Including filtered: 187)
Number of CNVs
(Including filtered: )
OMIM
CHCHD7
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 17.2 21 z = -0.57
Missense 36.8 47 z = -0.83
LoF 4.7 1 pLI = 0.39
CNV 3.6 1 z = 0.54

Gene summary

(canonical transcript: ENST00000303759)

Mean coverage


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