ClinVar Miner

List of variants studied for Kabuki syndrome 1 by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.13871C>T (p.Ser4624Leu) rs886043233
NM_003482.4(KMT2D):c.14110A>T (p.Ser4704Cys) rs1592110663
NM_003482.4(KMT2D):c.15079C>T (p.Arg5027Ter) rs797045659
NM_003482.4(KMT2D):c.15596_15597delinsGC (p.Phe5199Cys)
NM_003482.4(KMT2D):c.15989C>G (p.Pro5330Arg) rs1942485576
NM_003482.4(KMT2D):c.166C>T (p.Gln56Ter) rs1592162790
NM_003482.4(KMT2D):c.7933C>T (p.Arg2645Ter) rs1555191740

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.