List of variants reported as uncertain significance for X-linked intellectual disability by OMIM

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala)	rs200533370	0.01365
NM_004840.3(ARHGEF6):c.166-11T>C	rs140322310	0.00178
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His)	rs104894951	0.00119
NM_020717.5(SHROOM4):c.436C>T (p.Arg146Trp)	rs189694750	0.00031
NM_007137.5(ZNF81):c.536G>A (p.Ser179Asn)	rs28933691	0.00015
NM_001289.6(CLIC2):c.303C>G (p.His101Gln)	rs398122917	0.00012
NM_020717.5(SHROOM4):c.3266C>T (p.Ser1089Leu)	rs121434620	0.00001
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del)	rs398124510

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.