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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AIRE
(R15H)
Single nucleotide variant
(missense variant)
Polyglandular autoimmune syndrome, type 1
GPathogenic
AIRE
(D70fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic