ClinVar Miner

List of variants reported as likely benign for 11p partial monosomy syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.-129+9G>A rs56139994 0.02711
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) rs114384476 0.01168
NM_001368894.2(PAX6):c.-180A>G rs75563367 0.00766
NM_024426.6(WT1):c.*897G>C rs5030324 0.00520
NM_024426.6(WT1):c.*542G>A rs142726499 0.00380
NM_024426.6(WT1):c.*138G>A rs111351882 0.00165
NM_000280.4(PAX6):c.*2977C>A rs192709453 0.00019
NM_000280.4(PAX6):c.*3027G>A rs541022955 0.00017
NM_000280.4(PAX6):c.*1604A>T rs189545730 0.00011
NM_000280.4(PAX6):c.*1287A>T rs576321279 0.00008
NM_001368894.2(PAX6):c.972A>T (p.Thr324=) rs779631884 0.00001
NM_000280.4(PAX6):c.*2159C>T rs3026396

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.