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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COG7, LOC130058658
(L40Q)
Single nucleotide variant
(missense variant)
COG7 congenital disorder of glycosylation
GUncertain significance
COG7, LOC130058658
(A37T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COG7, LOC130058658
(A29V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
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