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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP6V1B1
Single nucleotide variant
(splice donor variant)
Rare genetic deafness
+2 more
GPathogenic
ATP6V1B1
(I386fs)
Duplication
(frameshift variant)
Inborn genetic diseases
+3 more
GPathogenic