ClinVar Miner

List of variants reported as pathogenic for Woodhouse-Sakati syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025000.4(DCAF17):c.1091+2T>C rs1235902967 0.00001
NM_025000.4(DCAF17):c.387G>A (p.Trp129Ter) rs1559264135 0.00001
NM_025000.4(DCAF17):c.1038T>G (p.Tyr346Ter)
NM_025000.4(DCAF17):c.1052_1058del (p.Ala351fs)
NM_025000.4(DCAF17):c.1068dup (p.His357fs)
NM_025000.4(DCAF17):c.1097T>A (p.Leu366Ter)
NM_025000.4(DCAF17):c.1127del (p.Ser376fs)
NM_025000.4(DCAF17):c.1204dup (p.Thr402fs) rs1696575671
NM_025000.4(DCAF17):c.1271del (p.Phe424fs)
NM_025000.4(DCAF17):c.1A>G (p.Met1Val)
NM_025000.4(DCAF17):c.1A>T (p.Met1Leu)
NM_025000.4(DCAF17):c.289dup (p.Ile97fs) rs863224865
NM_025000.4(DCAF17):c.2T>C (p.Met1Thr)
NM_025000.4(DCAF17):c.308G>A (p.Trp103Ter)
NM_025000.4(DCAF17):c.413del (p.Gly138fs)
NM_025000.4(DCAF17):c.436del (p.Ala147fs) rs797045038
NM_025000.4(DCAF17):c.535C>T (p.Gln179Ter)
NM_025000.4(DCAF17):c.539dup (p.Gly181fs)
NM_025000.4(DCAF17):c.554_555del (p.His185fs)
NM_025000.4(DCAF17):c.578dup (p.Arg194fs)
NM_025000.4(DCAF17):c.60C>A (p.Cys20Ter) rs2105706833
NM_025000.4(DCAF17):c.673_674del (p.Ile225fs)
NM_025000.4(DCAF17):c.705_706del (p.Leu235_Tyr236insTer)
NM_025000.4(DCAF17):c.85C>T (p.Gln29Ter) rs868533593
NM_025000.4(DCAF17):c.894_906del (p.Gly299fs)

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.