CLCN7

Cl-/H+ antiporter 7

Summary

The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008]

Known Variants1,029 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs376387077	16:1,494,947	C/T	—	likely benign
rs780617974	16:1,494,965	G/A	—	uncertain significance
rs74002247	16:1,494,987	C/G	—	benign
rs8767	16:1,495,006	C/G	—	benign
rs1451036503	16:1,495,009	C/A	—	uncertain significance
rs941409246	16:1,495,025	C/A	—	uncertain significance
rs532736933	16:1,495,043	C/G	—	likely benign
rs890063151	16:1,495,059	C/T	—	uncertain significance
rs539134149	16:1,495,060	G/A	—	likely benign
rs886051688	16:1,495,141	G/A	—	uncertain significance
rs578092313	16:1,495,180	C/T	—	likely benign
rs886051689	16:1,495,211	C/G	—	uncertain significance
rs886051690	16:1,495,229	T/G	—	uncertain significance
rs710900	16:1,495,243	T/G	—	benign
rs376131222	16:1,495,264	C/T	—	uncertain significance
rs941439	16:1,495,300	A/G	—	benign
rs2038617678	16:1,495,302	G/A	—	uncertain significance
rs556488187	16:1,495,335	A/G	—	uncertain significance
rs529027139	16:1,495,339	C/T	—	uncertain significance
rs2038618955	16:1,495,343	C/T	—	uncertain significance
rs371394735	16:1,495,384	C/T	—	uncertain significance
rs893418963	16:1,495,417	G/T	—	uncertain significance
rs886051691	16:1,495,443	C/T	—	uncertain significance
rs370167870	16:1,495,452	C/G	—	uncertain significance
rs150325021	16:1,495,456	G/A	—	benign
rs9921	16:1,495,475	A/G	—	benign
rs1174585279	16:1,495,547	C/T	—	uncertain significance
rs761591980	16:1,495,606	G/T	—	uncertain significance
rs1430382276	16:1,495,615	G/T	—	uncertain significance
rs1018535341	16:1,495,636	G/A	—	uncertain significance
rs114884549	16:1,495,642	G/A	—	benign
rs6600146	16:1,495,745	G/A	—	benign
rs1050834	16:1,495,746	G/A	—	benign
rs886051692	16:1,495,835	C/A	—	uncertain significance
rs2294542	16:1,495,897	G/A	—	benign
rs886051693	16:1,495,915	G/T	—	uncertain significance
rs1427445361	16:1,495,961	A/G	—	uncertain significance
rs751460368	16:1,496,000	G/C	—	uncertain significance
rs10903009	16:1,496,005	C/T	—	benign
rs886051694	16:1,496,018	C/T	—	uncertain significance
rs184831951	16:1,496,040	C/G	—	uncertain significance
rs542386664	16:1,496,089	G/A	—	uncertain significance
rs188481235	16:1,496,102	C/T	—	benign
rs527600278	16:1,496,122	C/G	—	uncertain significance
rs60516531	16:1,496,136	A/G	—	benign
rs886051695	16:1,496,218	G/A	—	uncertain significance
rs149057560	16:1,496,236	C/T	—	uncertain significance
rs745852264	16:1,496,244	G/A	—	uncertain significance
rs753373584	16:1,496,253	G/A	—	uncertain significance
rs762306226	16:1,496,273	T/C	—	uncertain significance
rs886051696	16:1,496,277	G/A	—	uncertain significance
rs572569244	16:1,496,370	C/T	—	benign
rs559965660	16:1,496,391	C/T	—	conflicting classifications of pathogenicity
rs143364973	16:1,496,404	G/A	—	uncertain significance
rs528735755	16:1,496,416	G/A	—	uncertain significance
rs1249374686	16:1,496,497	C/T	—	uncertain significance
rs764192196	16:1,496,500	G/A	—	uncertain significance
rs561217125	16:1,496,502	C/T	—	uncertain significance
rs372232215	16:1,496,543	G/A	—	likely benign
rs886051697	16:1,496,575	G/A	—	uncertain significance
rs1361452118	16:1,496,608	G/A	—	uncertain significance
rs11860968	16:1,496,613	T/C	—	benign
rs773825294	16:1,496,623	G/A	—	uncertain significance
rs202080270	16:1,496,635	C/T	—	conflicting classifications of pathogenicity
rs992765173	16:1,496,636	G/A	—	uncertain significance
rs948593358	16:1,496,647	C/T	—	likely benign
rs184833329	16:1,496,648	G/A	—	uncertain significance
rs764529771	16:1,496,650	G/A	—	likely benign
rs1596209680	16:1,496,659	C/T	—	likely benign
rs2038650035	16:1,496,669	T/A	—	uncertain significance
rs566172344	16:1,496,678	C/T	—	likely benign
rs761881885	16:1,496,679	G/A	—	uncertain significance
rs200936245	16:1,496,680	G/A	—	likely benign
rs1443383234	16:1,496,682	A/G	—	uncertain significance
rs201361839	16:1,496,688	C/T	—	uncertain significance
rs373814247	16:1,496,689	G/A	—	likely benign
rs1200061529	16:1,496,704	C/G	—	likely benign
rs766116666	16:1,496,712	C/T	—	uncertain significance
rs1390033295	16:1,496,713	G/A	—	likely benign
rs1172932679	16:1,496,718	C/A	—	likely pathogenic
rs2505810029	16:1,496,719	C/A	—	uncertain significance
rs1172586700	16:1,496,720	T/C	—	uncertain significance
rs200294852	16:1,496,722	C/T	—	likely benign
rs754977670	16:1,496,726	A/G	—	likely benign
rs374890704	16:1,496,738	C/T	—	benign
rs766563507	16:1,496,987	C/T	—	likely benign
rs886051698	16:1,496,993	C/T	—	conflicting classifications of pathogenicity
rs753577512	16:1,496,994	C/T	—	likely benign
rs371977822	16:1,496,995	G/A	—	conflicting classifications of pathogenicity
rs2038658002	16:1,496,998	C/G	—	likely benign
rs199721463	16:1,497,000	C/G	—	likely benign
rs777172728	16:1,497,001	G/A	—	uncertain significance
rs2038658229	16:1,497,008	T/C	—	likely benign
rs2038658347	16:1,497,013	G/A	—	likely benign
rs534953229	16:1,497,014	C/T	—	likely benign
rs144511808	16:1,497,015	G/A	—	uncertain significance
rs2505810904	16:1,497,016	G/C	—	uncertain significance
rs2038658698	16:1,497,022	C/T	—	likely benign
rs921948553	16:1,497,024	C/T	—	uncertain significance
rs749714462	16:1,497,025	C/A	—	likely benign

Showing 100 of 1,029 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.