ClinVar Miner

List of variants reported as likely pathogenic for Intellectual disability, X-linked 1 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001111125.3(IQSEC2):c.1401+2T>A rs2519835312
NM_001111125.3(IQSEC2):c.1402-124_1533del rs2519809669
NM_001111125.3(IQSEC2):c.2460-2A>G rs1602279457
NM_001111125.3(IQSEC2):c.2582+1del rs2074335019
NM_001111125.3(IQSEC2):c.2983C>T (p.Arg995Trp) rs1057521657
NM_001111125.3(IQSEC2):c.2984G>C (p.Arg995Pro) rs886041767
NM_001111125.3(IQSEC2):c.3015+2_3015+5del
NM_001111125.3(IQSEC2):c.3451+1G>C rs2519688268
NM_001111125.3(IQSEC2):c.3463C>G (p.Arg1155Gly) rs2074117985
NM_001111125.3(IQSEC2):c.3474C>T (p.Ser1158=) rs2147010150
NM_001111125.3(IQSEC2):c.586_707+728del rs2146544783

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.