ClinVar Miner

List of variants in gene CLCN5 reported as pathogenic for Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001127898.4(CLCN5):c.1047G>A (p.Trp349Ter) rs151340620
NM_001127898.4(CLCN5):c.1049G>C (p.Arg350Pro) rs151340628
NM_001127898.4(CLCN5):c.1238G>A (p.Trp413Ter) rs151340627
NM_001127898.4(CLCN5):c.334G>T (p.Glu112Ter) rs1933255436

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