ClinVar Miner

List of variants in gene SLC26A3 reported as pathogenic for Atrial septal defect; Failure to thrive; Polyhydramnios; Diarrhea; Premature birth; Hyperactive renin-angiotensin system; Hypokalemia; Hyponatremia; Hypochloremia; Increased circulating cortisol level; Abdominal distention; Metabolic alkalosis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_000111.2(SLC26A3):c.2024_2026dup (p.Ile675dup) rs121913031

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