List of variants reported as uncertain significance for autosomal recessive non-syndromic intellectual disability by Mayo Clinic Laboratories, Mayo Clinic

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006765.4(TUSC3):c.38C>T (p.Ala13Val)	rs200808372	0.00054
NM_001160372.4(TRAPPC9):c.3211G>A (p.Gly1071Ser)	rs200963473	0.00014
NM_001543.5(NDST1):c.1360C>T (p.Arg454Cys)	rs150009231	0.00011
NM_031466.8(TRAPPC9):c.-74C>A	rs139214686	0.00011
NM_004830.4(MED23):c.367C>T (p.Arg123Trp)	rs374403178	0.00006
NM_001543.5(NDST1):c.2401A>T (p.Thr801Ser)	rs760333260
NM_016219.5(MAN1B1):c.1883G>T (p.Ser628Ile)	rs797045687

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.