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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FDFT1
(K104R +1 more)
Single nucleotide variant
(missense variant +2 more)
Squalene synthase deficiency
+1 more
GBenign
FDFT1
Single nucleotide variant
(synonymous variant)
Squalene synthase deficiency
+1 more
GBenign
FDFT1
Single nucleotide variant
(intron variant)
Squalene synthase deficiency
+1 more
GBenign
FDFT1
Single nucleotide variant
(synonymous variant)
Squalene synthase deficiency
+1 more
GBenign
FDFT1
Single nucleotide variant
(intron variant)
Squalene synthase deficiency
+1 more
GBenign
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