ClinVar Miner

List of variants reported as pathogenic for syndromic intellectual disability by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
GRCh38/hg38 16p13.3(chr16:3727580-3851110)x1
NM_000489.6(ATRX):c.809C>T (p.Pro270Leu) rs2148637532
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter) rs886041701
NM_001347721.2(DYRK1A):c.658_659del (p.Met220fs) rs1555984102
NM_001356.5(DDX3X):c.822_824delinsGA (p.Thr275fs)
NM_001367721.1(CASK):c.1811del (p.Leu604fs)
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter) rs1553631860
NM_004187.5(KDM5C):c.2993del (p.Pro998fs)
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs)
NM_004380.3(CREBBP):c.1867_1874del (p.Asp623fs)
NM_004380.3(CREBBP):c.4650_4654del (p.Glu1551fs)
NM_004380.3(CREBBP):c.901C>T (p.Gln301Ter)
NM_004586.3(RPS6KA3):c.632-2A>C rs2148686736
NM_013275.6(ANKRD11):c.424C>T (p.Gln142Ter) rs1567592494
NM_013275.6(ANKRD11):c.4384dup (p.Arg1462fs) rs886041521
NM_015335.5(MED13L):c.5000_5001del (p.Ser1667fs)
NM_015338.6(ASXL1):c.1436_1437del (p.Pro479fs)
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) rs267607040
NM_015570.4(AUTS2):c.742_742+3del
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_020699.4(GATAD2B):c.346C>T (p.Arg116Ter) rs886041621
NM_020699.4(GATAD2B):c.535C>T (p.Arg179Ter) rs1553188463
NM_138576.4(BCL11B):c.1662_1668del (p.Ser555fs) rs2139757401
NM_138576.4(BCL11B):c.2443del (p.Arg815fs)
NM_138576.4(BCL11B):c.2605del (p.Leu869fs)
NM_139058.3(ARX):c.26dup (p.Cys10fs) rs2147325489
NM_152564.5(VPS13B):c.5197dup (p.Glu1733fs)
NM_152564.5(VPS13B):c.5936_5937dup (p.Asp1980fs) rs2129763561
NM_198880.3(QRICH1):c.1585dup (p.Cys529fs) rs2106863220

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.