ClinVar Miner

List of variants reported as uncertain significance for McKusick-Kaufman syndrome by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_018848.3(MKKS):c.1372G>T (p.Val458Phe)
NM_018848.3(MKKS):c.1654G>A (p.Ala552Thr)
NM_018848.3(MKKS):c.425T>C (p.Val142Ala) rs863224773
NM_018848.3(MKKS):c.638C>G (p.Thr213Ser) rs780570415
NM_018848.3(MKKS):c.697A>C (p.Ile233Leu) rs141201812
NM_018848.3(MKKS):c.749G>A (p.Gly250Glu)

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.