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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PROM1
(E728* +1 more)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 41
GLikely pathogenic
PROM1
(R684* +1 more)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 41
+2 more
GPathogenic
PROM1
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 41
GLikely pathogenic
PROM1
(H47fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 41
+1 more
GPathogenic
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