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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HBB, LOC106099062
+1 more
(Q40*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+12 more
GPathogenic
HBB, LOC106099062
+1 more
(E7V)
Single nucleotide variant
(missense variant)
Beta-thalassemia HBB/LCRB
+15 more
GPathogenic
HBB, LOC106099062
+1 more
(E7K)
Single nucleotide variant
(missense variant)
Sickle cell-hemoglobin C disease
+15 more
GPathogenic
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