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Links from OMIM

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C3
(D1115N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
C3
(A1094V)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with C3 anomaly
Grisk factor
C3
(R592Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
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