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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFTR, LOC113664106
+1 more
Deletion
Cystic fibrosis
GPathogenic
CFTR, LOC113664106
Single nucleotide variant
(splice acceptor variant)
Cystic fibrosis
GPathogenic
CFTR, LOC113664106
(E56fs)
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR, LOC113664106
(R59fs)
Duplication
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR, LOC113664106
(E60*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
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