ClinVar Miner

List of variants reported as pathogenic for Kabuki syndrome by OMIM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001291415.2(KDM6A):c.1711C>T (p.Arg571Ter) rs397514628
NM_001291415.2(KDM6A):c.2065_2068del (p.Ser689fs) rs398122969
NM_001291415.2(KDM6A):c.2671_2674del (p.Asn891fs) rs786205676
NM_001291415.2(KDM6A):c.3507TCT[1] (p.Leu1171del) rs398122829
NM_001291415.2(KDM6A):c.3873G>A (p.Trp1291Ter) rs398122929
NM_003482.4(KMT2D):c.13579A>T (p.Lys4527Ter) rs267607240
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003482.4(KMT2D):c.16360C>T (p.Arg5454Ter) rs267607239
NM_003482.4(KMT2D):c.16391C>T (p.Thr5464Met) rs267607238
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
nsv1067838

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.