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Gene: SPINK1


SPINK1
serine peptidase inhibitor, Kazal type 1
Number of variants
(Including filtered: 128)
Number of CNVs
(Including filtered: )
OMIM
SPINK1
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 9.5 11 z = -0.30
Missense 24.0 32 z = -0.79
LoF 3.7 1 pLI = 0.29
CNV 3.1 2 z = 0.22

Gene summary

(canonical transcript: ENST00000296695)

Mean coverage


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