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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCN5
(W115* +2 more)
Single nucleotide variant
(nonsense)
Dent disease type 1
GPathogenic
CLCN5
(A154fs +2 more)
Deletion
(frameshift variant)
Dent disease type 1
GPathogenic
CLCN5
(S244* +2 more)
Single nucleotide variant
(nonsense)
Dent disease type 1
+1 more
GConflicting classifications of pathogenicity
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