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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC4A1
(G609R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
SLC4A1
(R518C)
Single nucleotide variant
(missense variant)
Autosomal dominant distal renal tubular acidosis
GUncertain significance
SLC4A1
(P327R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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