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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMC1
(R34*)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+3 more
GPathogenic
TMC1
Single nucleotide variant
(splice donor variant)
Ear malformation
+4 more
GPathogenic
TMC1
(E740*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 7
GPathogenic
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