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Links from OMIM

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NUP93
(K319fs +1 more)
Deletion
(frameshift variant)
Nephrotic syndrome, type 12
GPathogenic
NUP93
(Y629C +1 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 12
+1 more
GPathogenic/Likely pathogenic
NUP93
(G591V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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