ClinVar Miner

List of variants studied for Kabuki syndrome 2 by Genome-Nilou Lab

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001291415.2(KDM6A):c.4161+14T>C	rs5952682	0.22765
NM_001291415.2(KDM6A):c.3267G>A (p.Gln1089=)	rs20539	0.16047
NM_001291415.2(KDM6A):c.2859-5del	rs10605935

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.