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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
XPNPEP3
(Q220*)
Single nucleotide variant
(nonsense)
Nephronophthisis-like nephropathy 1
GLikely pathogenic
XPNPEP3
(D398fs)
Deletion
(frameshift variant)
Nephronophthisis-like nephropathy 1
GLikely pathogenic