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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SERPINA6
(D389N)
Single nucleotide variant
(missense variant)
Corticosteroid-binding globulin deficiency
GConflicting classifications of pathogenicity
SERPINA6
(L115H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SERPINA6
(W11*)
Single nucleotide variant
(nonsense)
Corticosteroid-binding globulin deficiency
GPathogenic
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