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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNGB1
Deletion
(splice acceptor variant)
Retinitis pigmentosa 45
GLikely pathogenic
CNGB1
(Q325* +1 more)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 45
GLikely pathogenic