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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RNH1
(R373W)
Single nucleotide variant
(missense variant)
RNH1-related disorder
GUncertain significance
RNH1
(S228fs)
Indel
(frameshift variant)
RNH1-related disorder
GUncertain significance