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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC4A11
(R755W +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
SLC4A11
Single nucleotide variant
(splice donor variant)
Congenital hereditary endothelial dystrophy of cornea
GLikely pathogenic