ClinVar Miner

List of variants in gene CHD8 reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.1951C>T (p.Arg651Trp) rs1329659775
NM_001170629.2(CHD8):c.2866_2868delinsAGTA (p.Arg956fs) rs1594349020
NM_001170629.2(CHD8):c.2867G>A (p.Arg956His) rs2139478439
NM_001170629.2(CHD8):c.3274C>T (p.Arg1092Cys) rs1439223724
NM_001170629.2(CHD8):c.3291C>A (p.His1097Gln) rs1555315221
NM_001170629.2(CHD8):c.3308G>T (p.Gly1103Val) rs1064795655
NM_001170629.2(CHD8):c.3964G>C (p.Gly1322Arg) rs1057523712
NM_001170629.2(CHD8):c.4817+2T>A rs1555314174
NM_001170629.2(CHD8):c.5326C>T (p.Arg1776Ter) rs1085307794
NM_001170629.2(CHD8):c.6467A>G (p.Lys2156Arg)
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.