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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OTOF
(R1583C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
OTOF
(R1344* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
LOC129933334, OTOF
(E747* +1 more)
Single nucleotide variant
(nonsense +1 more)
Rare genetic deafness
+3 more
GPathogenic
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