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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HBA1, LOC106804613
(H88Y)
Single nucleotide variant
(missense variant)
Methemoglobinemia, alpha type
GPathogenic
HBA1, LOC106804613
(L110fs)
Deletion
(frameshift variant)
not provided
+5 more
GPathogenic/Likely pathogenic