ClinVar Miner

List of variants studied for X-linked recessive nephrolithiasis with renal failure

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001127898.4(CLCN5):c.152G>A (p.Arg51Gln) rs1318459336 0.00001
NM_001127898.4(CLCN5):c.1420G>A (p.Glu474Lys)
NM_001127898.4(CLCN5):c.1495T>C (p.Trp499Arg)
NM_001127898.4(CLCN5):c.1727G>A (p.Gly576Glu) rs151340625
NM_001127898.4(CLCN5):c.2197A>G (p.Thr733Ala) rs1934065991
NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter) rs151340624
NM_001127898.4(CLCN5):c.380G>T (p.Gly127Val) rs151340629

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