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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FXN, LOC130001862
(M1I)
Single nucleotide variant
(missense variant +1 more)
Friedreich ataxia 1
+1 more
GPathogenic
FXN, LOC130001862
(R53fs)
Deletion
(frameshift variant)
not provided
GPathogenic