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Gene: NKX2-1


NKX2-1
NK2 homeobox 1
Number of variants
(Including filtered: 297)
Number of CNVs
(Including filtered: )
OMIM
NKX2-1
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 114.8 61 z = 3.11
Missense 178.6 87 z = 3.35
LoF 8.2 3 pLI = 0.08
CNV 2.3 2 z = 0.07

Gene summary

(canonical transcript: ENST00000354822)

Mean coverage