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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HBB, LOC106099062
+1 more
(V99M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
LOC107133510, HBB
+1 more
Single nucleotide variant
(splice donor variant)
Beta-thalassemia HBB/LCRB
+11 more
GPathogenic
HBB, LOC106099062
+1 more
(S10fs)
Duplication
(frameshift variant)
Beta-thalassemia HBB/LCRB
+12 more
GConflicting classifications of pathogenicity
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