ClinVar Miner

List of variants reported as likely pathogenic for X-linked disease by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001039591.3(USP9X):c.5717C>T (p.Thr1906Ile) rs2147245804
NM_001081550.2(THOC2):c.3305A>G (p.Tyr1102Cys) rs2047177327
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs) rs1557135353
NM_001111125.3(IQSEC2):c.4092del (p.Thr1365fs) rs2074096700
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys) rs1057524031
NM_004187.5(KDM5C):c.1747G>T (p.Val583Phe) rs1602183890
NM_004586.3(RPS6KA3):c.307AAG[1] (p.Lys104del) rs2148721833
NM_004606.5(TAF1):c.4748A>G (p.Tyr1583Cys) rs2148612232
NM_021120.4(DLG3):c.1819+1del
NM_153252.5(BRWD3):c.3893T>A (p.Leu1298Ter) rs750080794
NM_153252.5(BRWD3):c.439dup (p.Thr147fs)
NM_203475.3(PORCN):c.884C>T (p.Pro295Leu) rs2061701575

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.