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Gene: EMC8


EMC8
ER membrane protein complex subunit 8
Number of variants
(Including filtered: 298)
Number of CNVs
(Including filtered: )
OMIM
EMC8
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 47.9 48 z = -0.01
Missense 85.0 68 z = 0.90
LoF 7.4 2 pLI = 0.26
CNV 3.2 2 z = 0.23

Gene summary

(canonical transcript: ENST00000253457)

Mean coverage


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