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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNGA1, LOC101927157
(G360D)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 49
GUncertain significance
CNGA1, LOC101927157
(L85fs)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic
CNGA1, LOC101927157
(R101* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
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