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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCNN1A
(R709H +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(splice donor variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
GPathogenic
SCNN1A
(C133Y +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
GUncertain significance
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