CLCNKB

chloride voltage-gated channel Kb

Summary

The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

Known Variants418 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2007480	1:16,368,892	C/G	regulatory region variant	—
rs868950	1:16,370,215	A/T	—	—
rs2863437	1:16,370,664	G/T	—	benign
rs9442195	1:16,370,677	G/C	—	benign
rs75909377	1:16,370,712	C/T	—	benign
rs9442224	1:16,370,741	C/T	—	benign
rs9442225	1:16,370,791	C/G	—	benign
rs945394	1:16,370,899	A/G	—	benign
rs768510442	1:16,370,996	G/T	—	conflicting classifications of pathogenicity
rs34851419	1:16,370,999	T/G	—	benign
rs387907411	1:16,371,010	G/A	—	uncertain significance
rs759045664	1:16,371,039	C/T	—	likely benign
rs1214974456	1:16,371,050	G/A	—	likely benign
rs387907412	1:16,371,058	C/T	—	uncertain significance
rs376899737	1:16,371,065	C/A	—	likely benign
rs370236747	1:16,371,066	C/G	—	uncertain significance
rs2015352	1:16,371,067	G/T	missense variant	benign
rs544582273	1:16,371,073	G/A	—	uncertain significance
rs746767761	1:16,371,085	G/A	—	uncertain significance
rs1469662505	1:16,371,102	C/G	—	likely benign
rs13306234	1:16,371,282	G/A	—	likely benign
rs6604908	1:16,371,872	G/C	—	benign
rs6604909	1:16,371,932	A/C	—	benign
rs6604910	1:16,372,003	G/C	—	benign
rs762515275	1:16,372,053	G/A	—	uncertain significance
rs375301415	1:16,372,064	T/C	—	conflicting classifications of pathogenicity
rs143673726	1:16,372,069	G/A	—	likely benign
rs367552783	1:16,372,085	C/T	—	uncertain significance
rs551946850	1:16,372,086	G/A	—	uncertain significance
rs370273137	1:16,372,093	C/A	—	likely benign
rs1278372772	1:16,372,120	C/T	—	likely benign
rs150723240	1:16,372,123	G/A	—	likely benign
rs144043939	1:16,372,124	G/T	—	conflicting classifications of pathogenicity
rs2524368675	1:16,372,126	G/A	—	likely benign
rs771316846	1:16,372,131	T/C	—	uncertain significance
rs757241954	1:16,372,161	C/A	—	uncertain significance
rs755918269	1:16,372,174	G/A	—	likely benign
rs1301542332	1:16,372,177	C/G	—	likely benign
rs370985865	1:16,372,178	C/T	—	pathogenic
rs139676842	1:16,372,179	G/A	—	uncertain significance
rs2023079798	1:16,372,186	C/A	—	uncertain significance
rs1248336976	1:16,372,191	C/T	—	likely benign
rs1570328374	1:16,372,201	T/G	—	likely benign
rs6604911	1:16,372,283	T/G	—	benign
rs3884057	1:16,372,808	G/A	—	benign
rs2014848	1:16,372,911	G/A	—	benign
rs2014841	1:16,372,971	G/A	—	benign
rs370343548	1:16,373,016	C/G	—	likely benign
rs777325023	1:16,373,020	C/G	—	likely benign
rs554794449	1:16,373,029	G/C	—	pathogenic
rs146627440	1:16,373,030	C/A	—	uncertain significance
rs143215915	1:16,373,031	G/A	—	likely benign
rs774375793	1:16,373,032	C/T	—	uncertain significance
rs2023105293	1:16,373,036	A/G	—	uncertain significance
rs1557466696	1:16,373,050	G/C	—	uncertain significance
rs143339401	1:16,373,058	G/A	—	likely benign
rs1431684482	1:16,373,061	C/T	—	likely benign
rs5256	1:16,373,062	A/C	—	benign
rs777305169	1:16,373,074	C/T	—	pathogenic
rs751020964	1:16,373,075	G/A	—	uncertain significance
rs201876924	1:16,373,080	C/A	—	likely benign
rs749663302	1:16,373,082	C/T	—	likely benign
rs779327388	1:16,373,095	T/C	—	uncertain significance
rs35530360	1:16,373,110	G/A	—	likely benign
rs770999043	1:16,373,115	T/C	—	uncertain significance
rs1429750988	1:16,373,120	C/T	—	uncertain significance
rs5257	1:16,373,124	A/G	—	benign
rs527773080	1:16,373,138	G/C	—	uncertain significance
rs1197118409	1:16,373,148	C/T	—	likely benign
rs2524371597	1:16,373,166	C/T	—	likely benign
rs1394741065	1:16,373,173	G/C	—	likely benign
rs201499472	1:16,373,177	C/T	—	likely benign
rs199657323	1:16,373,178	G/A	—	likely benign
rs2095540	1:16,373,282	G/A	—	benign
rs78040646	1:16,374,168	G/A	—	benign
rs869704	1:16,374,185	G/A	—	benign
rs945403	1:16,374,330	A/G	—	benign
rs1057521154	1:16,374,400	G/T	missense variant	pathogenic
rs1352919481	1:16,374,404	T/C	—	likely benign
rs121909131	1:16,374,412	C/G	missense variant	uncertain significance
rs200464534	1:16,374,413	G/A	—	likely benign
rs2524375542	1:16,374,418	T/C	—	uncertain significance
rs1290894313	1:16,374,426	A/G	—	uncertain significance
rs550605543	1:16,374,433	C/T	—	likely benign
rs778271761	1:16,374,434	G/A	—	likely benign
rs768504571	1:16,374,457	T/G	—	uncertain significance
rs2023148714	1:16,374,470	C/G	—	uncertain significance
rs1247490802	1:16,374,472	T/C	—	uncertain significance
rs1284974608	1:16,374,473	T/C	—	likely benign
rs772633855	1:16,374,476	G/C	—	likely benign
rs2524375805	1:16,374,509	C/G	—	likely benign
rs111550184	1:16,374,510	T/A	—	likely benign
rs1433595236	1:16,374,511	G/C	—	likely benign
rs1400748522	1:16,374,518	C/T	—	likely benign
rs764595483	1:16,374,530	C/T	—	likely benign
rs2014562	1:16,374,533	G/C	—	benign
rs1200818995	1:16,374,540	G/C	—	pathogenic
rs2524375969	1:16,374,541	T/G	—	pathogenic
rs1443260796	1:16,374,546	G/T	—	likely benign
rs376006347	1:16,374,551	G/T	—	uncertain significance

Showing 100 of 418 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.