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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR1D
(A33P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLR1D
(D48E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLR1D
(S127I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
POLR1D
(T132A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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