ClinVar Miner

List of variants reported as likely pathogenic for Mental retardation, X-linked, syndromic 33

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
NM_004606.5(TAF1):c.1520A>G (p.Asp507Gly) rs1602481623
NM_004606.5(TAF1):c.1979G>A (p.Gly660Asp) rs1602489684
NM_004606.5(TAF1):c.2120G>A (p.Arg707Gln)
NM_004606.5(TAF1):c.2530C>T (p.Arg844Trp)
NM_004606.5(TAF1):c.2608C>T (p.Arg870Cys) rs1602506017
NM_004606.5(TAF1):c.2894C>T (p.Ser965Phe) rs1057518019
NM_004606.5(TAF1):c.2975C>T (p.Thr992Ile) rs1602520317
NM_004606.5(TAF1):c.3508C>T (p.Arg1170Cys) rs1569301036
NM_004606.5(TAF1):c.3700C>T (p.Arg1234Trp) rs1602538353
NM_004606.5(TAF1):c.3973G>A (p.Val1325Ile) rs1131691982
NM_004606.5(TAF1):c.4226C>T (p.Pro1409Leu) rs1555980523
NM_004606.5(TAF1):c.4382A>T (p.Asn1461Ile) rs1602572645
NM_004606.5(TAF1):c.4394A>G (p.His1465Arg) rs1064793874
NM_004606.5(TAF1):c.4520C>T (p.Ala1507Val) rs1602624950

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.