ClinVar Miner

List of variants in gene CLCN1 reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_000083.3(CLCN1):c.2508+2T>A rs992259659
NM_000083.3(CLCN1):c.[1444G>A];[1448G>A]

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