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Gene: B3GNT6


B3GNT6
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)
Number of variants
(Including filtered: 336)
Number of CNVs
(Including filtered: )
OMIM
B3GNT6
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 123.9 74 z = 2.78
Missense 216.4 138 z = 2.61
LoF 6.8 8 pLI = 0.00
CNV 1.0 2 z = -0.22

Gene summary

(canonical transcript: ENST00000533140)

Mean coverage