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Gene: B3GNT2


B3GNT2
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
Number of variants
(Including filtered: 206)
Number of CNVs
(Including filtered: )
OMIM
B3GNT2
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 59.7 56 z = 0.30
Missense 130.6 98 z = 1.40
LoF 7.9 1 pLI = 0.70
CNV 5.9 5 z = 0.13

Gene summary

(canonical transcript: ENST00000301998)

Mean coverage


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