ClinVar Miner

List of variants reported as benign for Syndromic intellectual disability

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.*1145_*1146insT rs1491446284 0.40313
NM_015443.4(KANSL1):c.-90+8C>T rs72836333 0.35522
NM_015443.4(KANSL1):c.3029C>T (p.Pro1010Leu) rs7220988 0.34127
NM_001377265.1(MAPT):c.*1101A>G rs1052590 0.14499
NM_001377265.1(MAPT):c.*1759T>C rs7687 0.14487
NM_001377265.1(MAPT):c.*2806A>C rs2158257 0.14473
NM_001377265.1(MAPT):c.*1067T>C rs1052587 0.14468
NM_001377265.1(MAPT):c.*2972T>C rs17574228 0.14466
NM_001377265.1(MAPT):c.*2079C>T rs17652748 0.14441
NM_015443.4(KANSL1):c.2742C>T (p.Asp914=) rs35833914 0.14434
NM_015443.4(KANSL1):c.2751C>T (p.Phe917=) rs36076725 0.14426
NM_015443.4(KANSL1):c.*742G>A rs7350928 0.12614
NM_001377265.1(MAPT):c.*1152G>C rs1052594 0.12578
NM_001377265.1(MAPT):c.*2269G>T rs73317039 0.03265
NM_001377265.1(MAPT):c.*3848A>G rs114213384 0.03189
NM_001377265.1(MAPT):c.*3078=
NM_015443.4(KANSL1):c.*1328del rs71665335
NM_015443.4(KANSL1):c.*1354del rs67641084
NM_015443.4(KANSL1):c.*1520del rs67801660
NM_015443.4(KANSL1):c.*359_*360insAGAGGGC rs113448888
NM_015443.4(KANSL1):c.*885del rs5820607
NM_015443.4(KANSL1):c.-90+24CCT[3] rs143625699

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.