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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
THG1L, LOC129995144
(T46N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
THG1L
(D34V +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
THG1L
(D105N +1 more)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
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