ClinVar Miner

List of variants reported as likely benign for McKusick-Kaufman syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_170784.2(MKKS):c.*38A>G rs79940214
NM_170784.2(MKKS):c.*392T>C rs2294901
NM_170784.2(MKKS):c.*435G>A rs6108549
NM_170784.2(MKKS):c.*46G>T rs74703166
NM_170784.2(MKKS):c.-649+2202_-649+2204dup rs143825746
NM_170784.2(MKKS):c.1462G>A (p.Ala488Thr) rs61734546
NM_170784.2(MKKS):c.1549C>T (p.Arg517Cys) rs1547
NM_170784.2(MKKS):c.1553G>A (p.Arg518His) rs149051148
NM_170784.2(MKKS):c.1595G>T (p.Gly532Val) rs1545
NM_170784.2(MKKS):c.534C>T (p.Ile178=) rs17852625

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.