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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SRD5A3
(W19*)
Single nucleotide variant
(nonsense)
SRD5A3-congenital disorder of glycosylation
+3 more
GPathogenic
SRD5A3
(W107*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic