List of variants studied for syndromic X-linked intellectual disability Shashi type

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002139.4(RBMX):c.997G>T (p.Asp333Tyr)	rs148934011	0.00031
NM_002139.4(RBMX):c.389-8T>C	rs181515589	0.00011
NM_002139.4(RBMX):c.296C>T (p.Pro99Leu)	rs1241455828	0.00001
NM_002139.4(RBMX):c.-1C>A	rs2011584
NM_002139.4(RBMX):c.101T>C (p.Ile34Thr)	rs2148714108
NM_002139.4(RBMX):c.1031G>A (p.Arg344Lys)
NM_002139.4(RBMX):c.1037_1059del (p.Glu346fs)
NM_002139.4(RBMX):c.217-2dup
NM_002139.4(RBMX):c.287C>T (p.Pro96Leu)
NM_002139.4(RBMX):c.591A>G (p.Glu197=)	rs1261521581

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.