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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
XPA
(R186*)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
XPA
Single nucleotide variant
(splice acceptor variant)
Xeroderma pigmentosum
+2 more
GPathogenic
XPA
Indel
(nonsense +1 more)
Xeroderma pigmentosum group A
Gnot provided
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