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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SERPINF2
(E112del +1 more)
Microsatellite
(inframe_deletion)
Alpha-2-plasmin inhibitor deficiency
GPathogenic
SERPINF2
(V347M +1 more)
Single nucleotide variant
(missense variant)
Alpha-2-plasmin inhibitor deficiency
GPathogenic
SERPINF2
(M416fs +1 more)
Duplication
(frameshift variant)
Alpha-2-plasmin inhibitor deficiency
GPathogenic
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