ClinVar Miner

List of variants in gene MKKS studied for Bardet-Biedl syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_018848.3(MKKS):c.-417-20dup rs528193828
NM_018848.3(MKKS):c.-74G>A rs113994194
NM_018848.3(MKKS):c.-781del rs566962031
NM_018848.3(MKKS):c.-871_-869dup rs143825746
NM_018848.3(MKKS):c.117C>T (p.Pro39=) rs16991547
NM_018848.3(MKKS):c.1235G>T (p.Cys412Phe) rs1396840386
NM_018848.3(MKKS):c.1239_1242dup (p.Thr415Ter) rs1306231185
NM_018848.3(MKKS):c.1478del (p.Leu493fs) rs1568662687
NM_018848.3(MKKS):c.295T>C (p.Cys99Arg) rs1297985227
NM_018848.3(MKKS):c.431_441del (p.Phe144fs) rs113994195
NM_018848.3(MKKS):c.492T>A (p.Cys164Ter) rs1568666460
NM_018848.3(MKKS):c.534C>T (p.Ile178=) rs17852625
NM_018848.3(MKKS):c.792T>G (p.Tyr264Ter) rs74315397
NM_018848.3(MKKS):c.837del (p.Gly280fs) rs776004321
NM_018848.3(MKKS):c.873_876dup (p.Cys293fs) rs113994196
NM_018848.3(MKKS):c.890T>C (p.Ile297Thr) rs147704542
NM_170784.2(MKKS):c.-683_-674dup rs16996729

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.