ClinVar Miner

Variants in gene combination IDUA, SLC26A1 with conflicting interpretations reported as "pathogenic and "uncertain significance"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP gnomAD frequency
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260 0.00032
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878 0.00001

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