ClinVar Miner

List of variants in gene combination IDUA, SLC26A1 reported as pathogenic for Calcium oxalate urolithiasis

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260 0.00032
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met) rs139024319 0.00019
NM_022042.4(SLC26A1):c.824T>C (p.Leu275Pro) rs1192140369

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