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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHM
Deletion
(splice donor variant)
Choroideremia
GLikely pathogenic
CHM
(R293* +1 more)
Single nucleotide variant
(nonsense)
Choroideremia
+1 more
GPathogenic
CHM
(E29fs +1 more)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
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