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Gene: SPSB1


SPSB1
splA/ryanodine receptor domain and SOCS box containing 1
Number of variants
(Including filtered: 187)
Number of CNVs
(Including filtered: )
OMIM
SPSB1
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 66.1 71 z = -0.38
Missense 130.5 60 z = 3.02
LoF 8.1 1 pLI = 0.71
CNV 3.9 1 z = 0.59

Gene summary

(canonical transcript: ENST00000328089)

Mean coverage


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