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Gene: ATP6V0C


ATP6V0C
ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c
Number of variants
(Including filtered: 337)
Number of CNVs
(Including filtered: )
OMIM
ATP6V0C
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 49.3 51 z = -0.15
Missense 79.2 11 z = 3.75
LoF 4.0 0 pLI = 0.73
CNV 2.5 2 z = 0.10

Gene summary

(canonical transcript: ENST00000330398)

Mean coverage


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