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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806306, NPHP1
Single nucleotide variant
(splice acceptor variant)
Nephronophthisis 1
+2 more
GPathogenic
NPHP1
(P186fs +1 more)
Duplication
(frameshift variant)
Inborn genetic diseases
+4 more
GPathogenic