ClinVar Miner

List of variants studied for Intellectual disability, autosomal dominant 22 by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1
GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1
GRCh38/hg38 1q43-44(chr1:242164274-245299473)x1
GRCh38/hg38 1q43-44(chr1:242520315-246857912)x1
GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1
GRCh38/hg38 1q44(chr1:244051186-244055631)x1
NM_205768.3(ZBTB18):c.1307G>T (p.Arg436Leu) rs1572531765
NM_205768.3(ZBTB18):c.204_205del (p.Asp70fs) rs2527555293
NM_205768.3(ZBTB18):c.306del (p.Ile103fs) rs2527555688
NM_205768.3(ZBTB18):c.686_687del (p.Glu229fs) rs2527557571

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.