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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RFT1
(T444M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
RFT1
(Y378C)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
LOC129936883, RFT1
Single nucleotide variant
(synonymous variant)
RFT1-congenital disorder of glycosylation
GUncertain significance
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