ClinVar Miner

List of variants in gene combination CLCN5, LOC126863258 reported as not provided for Dent disease type 1

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001127898.4(CLCN5):c.1975C>T (p.Arg659Trp) rs782594764 0.00001
NM_001127898.4(CLCN5):c.1747G>A (p.Gly583Arg) rs273585647
NM_001127898.4(CLCN5):c.1756C>T (p.Arg586Trp) rs797044812
NM_001127898.4(CLCN5):c.1847A>G (p.Lys616Arg) rs273585649
NM_001127898.4(CLCN5):c.1849T>G (p.Trp617Gly) rs273585650
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter) rs797044813
NM_001127898.4(CLCN5):c.2152C>T (p.Arg718Ter) rs151340621

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