CHD7

chromodomain helicase DNA binding protein 7

Summary

This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

Known Variants2,739 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886063024	8:61,591,335	G/A	—	uncertain significance
rs865775134	8:61,591,344	G/A	—	uncertain significance
rs868087197	8:61,591,347	G/A	—	uncertain significance
rs71513464	8:61,591,350	A/G	—	uncertain significance
rs113958504	8:61,591,436	C/T	—	benign
rs531113504	8:61,591,489	C/G	—	uncertain significance
rs886063028	8:61,591,518	C/A	—	uncertain significance
rs886063029	8:61,591,567	C/G	—	uncertain significance
rs886063030	8:61,591,586	G/C	—	conflicting classifications of pathogenicity
rs531989939	8:61,591,635	C/G	—	uncertain significance
rs1805423326	8:61,591,641	G/A	—	uncertain significance
rs60146492	8:61,607,457	A/G	intron variant	—
rs10957156	8:61,629,401	G/C	—	—
rs35914442	8:61,636,887	A/G	intron variant	—
rs13256023	8:61,648,551	C/T	regulatory region variant	—
rs7846314	8:61,650,831	A/G	—	—
rs900504	8:61,651,707	G/T	—	—
rs74350073	8:61,653,510	A/G	—	likely benign
rs16926450	8:61,653,596	T/C	—	benign
rs17825594	8:61,653,606	C/A	—	benign
rs1305948343	8:61,653,817	G/A	—	likely pathogenic
rs1808989933	8:61,653,890	G/T	—	uncertain significance
rs1452184371	8:61,653,922	A/G	—	uncertain significance
rs780813907	8:61,653,967	T/A	—	uncertain significance
rs1484168822	8:61,653,977	G/A	—	conflicting classifications of pathogenicity
rs1809000474	8:61,653,996	C/A	—	likely pathogenic
rs1331575367	8:61,653,997	A/G	—	likely benign
rs886063031	8:61,654,004	G/C	—	uncertain significance
rs775507949	8:61,654,009	G/T	—	benign
rs2487256672	8:61,654,013	A/T	—	uncertain significance
rs2487256778	8:61,654,018	T/G	—	likely benign
rs560030949	8:61,654,024	C/T	—	conflicting classifications of pathogenicity
rs769949098	8:61,654,025	G/A	—	likely benign
rs1809003344	8:61,654,027	G/A	—	likely benign
rs1215319146	8:61,654,033	G/A	—	likely benign
rs1280305079	8:61,654,044	G/A	—	uncertain significance
rs2150577330	8:61,654,045	T/C	—	likely benign
rs1809004250	8:61,654,048	A/C	—	uncertain significance
rs763058890	8:61,654,058	G/A	—	likely benign
rs1406914349	8:61,654,061	C/T	—	uncertain significance
rs267601960	8:61,654,063	C/T	—	likely benign
rs759887905	8:61,654,064	G/A	—	conflicting classifications of pathogenicity
rs2487257595	8:61,654,072	T/C	—	likely benign
rs1809007164	8:61,654,074	G/A	—	uncertain significance
rs768014298	8:61,654,080	C/T	—	conflicting classifications of pathogenicity
rs374464240	8:61,654,081	G/A	—	conflicting classifications of pathogenicity
rs2487257832	8:61,654,082	G/T	—	pathogenic
rs763572916	8:61,654,089	C/G	—	likely benign
rs1170310957	8:61,654,093	A/G	—	likely benign
rs1426578628	8:61,654,097	C/T	—	benign
rs2150577446	8:61,654,098	C/G	—	uncertain significance
rs1416709395	8:61,654,100	A/G	—	conflicting classifications of pathogenicity
rs1809009948	8:61,654,101	T/C	—	uncertain significance
rs2487258362	8:61,654,113	T/C	—	uncertain significance
rs1300386910	8:61,654,115	C/T	—	benign
rs201542180	8:61,654,118	A/G	—	conflicting classifications of pathogenicity
rs1364452059	8:61,654,130	T/G	—	benign
rs2150577522	8:61,654,132	T/C	—	likely benign
rs886039523	8:61,654,142	C/T	stop gained	pathogenic
rs1809015487	8:61,654,143	A/G	—	uncertain significance
rs377710972	8:61,654,146	C/G	—	conflicting classifications of pathogenicity
rs398124315	8:61,654,147	A/G	—	conflicting classifications of pathogenicity
rs2487259044	8:61,654,151	C/G	—	uncertain significance
rs121434345	8:61,654,155	A/G	missense variant	pathogenic
rs2487259157	8:61,654,156	T/C	—	likely benign
rs199776087	8:61,654,159	T/C	—	likely benign
rs1196290112	8:61,654,162	T/C	—	likely benign
rs548706525	8:61,654,167	C/G	—	likely benign
rs1002372007	8:61,654,192	A/C	—	likely benign
rs886063032	8:61,654,193	C/T	—	uncertain significance
rs1809021019	8:61,654,198	T/G	—	uncertain significance
rs759847780	8:61,654,199	G/C	—	likely benign
rs2487259956	8:61,654,200	A/G	—	uncertain significance
rs767819417	8:61,654,206	A/G	—	conflicting classifications of pathogenicity
rs16926453	8:61,654,207	T/C	—	benign
rs2150577671	8:61,654,223	C/T	—	pathogenic
rs2150577685	8:61,654,226	A/G	—	uncertain significance
rs1064796792	8:61,654,227	A/G	—	uncertain significance
rs753270420	8:61,654,229	A/G	—	uncertain significance
rs2487260304	8:61,654,230	T/G	—	uncertain significance
rs199675125	8:61,654,231	G/A	—	conflicting classifications of pathogenicity
rs1809024182	8:61,654,238	A/G	—	uncertain significance
rs1355349547	8:61,654,248	C/G	—	uncertain significance
rs750046226	8:61,654,249	G/A	—	likely benign
rs1015190633	8:61,654,253	A/G	—	uncertain significance
rs2487260770	8:61,654,258	G/T	—	uncertain significance
rs794727294	8:61,654,263	G/A	—	conflicting classifications of pathogenicity
rs779967922	8:61,654,267	C/T	—	likely benign
rs398124317	8:61,654,268	A/G	—	conflicting classifications of pathogenicity
rs1809027007	8:61,654,269	C/A	—	uncertain significance
rs2150577775	8:61,654,270	C/T	—	likely benign
rs754953018	8:61,654,279	C/T	—	likely benign
rs368160678	8:61,654,280	G/A	—	conflicting classifications of pathogenicity
rs1809028585	8:61,654,281	G/A	—	uncertain significance
rs2487261159	8:61,654,283	C/T	—	uncertain significance
rs372513999	8:61,654,285	C/T	—	likely benign
rs779024959	8:61,654,286	G/C	—	conflicting classifications of pathogenicity
rs772466277	8:61,654,287	C/T	—	conflicting classifications of pathogenicity
rs775823361	8:61,654,288	G/A	—	likely benign
rs1809030198	8:61,654,290	C/A	—	uncertain significance

Showing 100 of 2,739 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.