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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAAF1
Deletion
(splice acceptor variant +1 more)
Primary ciliary dyskinesia 13
GPathogenic
DNAAF1
(L175R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
GPathogenic
DNAAF1
(R271* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
GPathogenic
DNAAF1
(P215fs +1 more)
Duplication
(frameshift variant)
Primary ciliary dyskinesia
GPathogenic
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