ClinVar Miner

List of variants reported as likely pathogenic for X-linked disease by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001011658.4(TRAPPC2):c.-97G>A rs746032983 0.00034
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys) rs865842167 0.00001
NM_000252.3(MTM1):c.533T>C (p.Leu178Ser) rs2148488364
NM_000381.4(MID1):c.757-1G>A rs1555895725
NM_001079872.2(CUL4B):c.1396C>T (p.Arg466Ter) rs905353542
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) rs1603360542
NM_001356.5(DDX3X):c.113A>G (p.Tyr38Cys) rs1555951993
NM_001356.5(DDX3X):c.1463G>A (p.Arg488His) rs796052235
NM_001356.5(DDX3X):c.1563dup (p.Ile522fs) rs1602136369
NM_001356.5(DDX3X):c.830_831del (p.Glu277fs) rs1602131859
NM_001356.5(DDX3X):c.833dup (p.Leu278fs) rs1602131872
NM_001356.5(DDX3X):c.887G>C (p.Arg296Pro) rs1602132216
NM_001415.4(EIF2S3):c.433A>G (p.Met145Val) rs1602041478
NM_002578.5(PAK3):c.1066G>T (p.Glu356Ter) rs2149325212
NM_004187.5(KDM5C):c.1795C>T (p.Arg599Cys)
NM_004187.5(KDM5C):c.1843G>T (p.Val615Phe) rs2146868023
NM_004187.5(KDM5C):c.1866G>T (p.Trp622Cys) rs1602183619
NM_004187.5(KDM5C):c.208C>T (p.Gln70Ter) rs2146961698
NM_004187.5(KDM5C):c.589dup (p.Leu197fs) rs1602228596
NM_004586.3(RPS6KA3):c.629C>T (p.Thr210Ile) rs1325953089
NM_004606.5(TAF1):c.4226C>T (p.Pro1409Leu) rs1555980523
NM_005120.3(MED12):c.3505G>T (p.Ala1169Ser) rs1602299778
NM_006517.5(SLC16A2):c.1390C>T (p.Pro464Ser) rs1363308293
NM_006950.3(SYN1):c.1439dup (p.Leu481fs) rs1556857481
NM_015107.3(PHF8):c.2444-2A>G rs1603305030
NM_016032.4(ZDHHC9):c.496G>A (p.Asp166Asn) rs2124105757
NM_016032.4(ZDHHC9):c.892C>T (p.Arg298Ter)
NM_033380.3(COL4A5):c.645+3_645+36del
NM_139058.3(ARX):c.1374_1383del (p.Ala458_Pro459insTer) rs1569394026

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.