ClinVar Miner

List of variants in gene MKKS reported as benign for McKusick-Kaufman syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_170784.2(MKKS):c.1015A>G (p.Ile339Val) rs137853909
NM_170784.2(MKKS):c.117C>T (p.Pro39=) rs16991547
NM_170784.2(MKKS):c.1462G>A (p.Ala488Thr) rs61734546
NM_170784.2(MKKS):c.16G>A (p.Ala6Thr) rs150920905
NM_170784.2(MKKS):c.416G>A (p.Arg139Gln) rs145045986
NM_170784.2(MKKS):c.724G>T (p.Ala242Ser) rs74315394
NM_170784.2(MKKS):c.757T>C (p.Ser253Pro) rs201785599

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.