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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZNF469
(A361fs)
Deletion
(frameshift variant)
Brittle cornea syndrome 1
GLikely pathogenic
ZNF469
(L482fs)
Deletion
(frameshift variant)
Brittle cornea syndrome 1
GPathogenic
ZNF469
(G529fs)
Deletion
(frameshift variant)
Brittle cornea syndrome 1
GLikely pathogenic
ZNF469
(Q1103*)
Single nucleotide variant
(nonsense)
Brittle cornea syndrome 1
GPathogenic
ZNF469
(A3293fs)
Duplication
(frameshift variant)
Brittle cornea syndrome 1
GLikely pathogenic
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