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Gene: SOX2


SOX2
SRY (sex determining region Y)-box 2
Number of variants
(Including filtered: 136)
Number of CNVs
(Including filtered: )
OMIM
SOX2
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 98.7 58 z = 2.54
Missense 169.5 53 z = 4.38
LoF 4.7 1 pLI = 0.40
CNV 1.4 1 z = 0.10

Gene summary

(canonical transcript: ENST00000325404)

Mean coverage


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