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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SRD5A3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SRD5A3
Single nucleotide variant
(synonymous variant)
SRD5A3-related condition
+3 more
GConflicting classifications of pathogenicity
SRD5A3
(W19*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
SRD5A3
(G122*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SRD5A3, SRD5A3-AS1
(W201*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
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