List of variants reported as pathogenic for autosomal recessive non-syndromic intellectual disability by Institute of Human Genetics, University of Leipzig Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)	rs141976414	0.00080
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	0.00048
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter)	rs200667343	0.00007
NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys)	rs387906886	0.00005
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)	rs387907196	0.00002
NM_020374.4(FERRY3):c.1360C>T (p.Arg454Ter)	rs749969789	0.00001
NM_001136035.4(TRMT1):c.1332_1333del (p.Tyr445fs)	rs1203487591
NM_001136035.4(TRMT1):c.312del (p.Lys105fs)	rs2019321826
NM_005645.4(TAF13):c.119T>A (p.Met40Lys)	rs1060505029
NM_005645.4(TAF13):c.92T>A (p.Leu31His)	rs1060505030
NM_014806.5(RUSC2):c.3235+2T>A
NM_016302.4(CRBN):c.835+1G>A	rs1226252969
NM_017721.5(CC2D1A):c.2693del (p.Gly898fs)	rs1423002835
NM_024298.5(MBOAT7):c.423del (p.Leu142fs)	rs886041059
NM_024989.4(PGAP1):c.1501-2A>G	rs1288514578

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.