ClinVar Miner

List of variants in gene ANKRD11 reported as likely pathogenic for KBG syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_013275.6(ANKRD11):c.2006A>C (p.Asp669Ala) rs1597462279
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter) rs1597461100
NM_013275.6(ANKRD11):c.2409_2412del (p.Glu805fs) rs886039902
NM_013275.6(ANKRD11):c.2609_2612dup (p.Asp871fs) rs1597459998
NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter) rs1064793539
NM_013275.6(ANKRD11):c.3706C>T (p.Gln1236Ter) rs1555528356
NM_013275.6(ANKRD11):c.4288A>T (p.Lys1430Ter) rs1555527929
NM_013275.6(ANKRD11):c.5053del (p.His1684_Met1685insTer) rs1555527341
NM_013275.6(ANKRD11):c.7751C>A (p.Ala2584Asp) rs1555521799
NM_013275.6(ANKRD11):c.977del (p.Gly326fs) rs1555529979

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.