ClinVar Miner

List of variants studied for Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006766.5(KAT6A):c.3306del (p.Lys1103fs) rs1587713892
NM_006766.5(KAT6A):c.3318_3319insCT (p.Glu1107fs) rs1587713866
NM_006766.5(KAT6A):c.4228_4232del (p.Lys1410fs) rs1554679889
NM_006766.5(KAT6A):c.5505_5506del (p.Asn1836fs)

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.