ClinVar Miner

List of variants in gene WDR45 reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001029896.2(WDR45):c.1030A>G (p.Asn344Asp) rs797046100
NM_001029896.2(WDR45):c.342-3C>G rs2147816332
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001029896.2(WDR45):c.437-27A>C rs201384117
NM_001029896.2(WDR45):c.501del (p.Ser168fs) rs2147815668
NM_001029896.2(WDR45):c.516+1G>T rs797046102
NM_001029896.2(WDR45):c.827+2_827+3del rs797046103
NM_001029896.2(WDR45):c.863G>T (p.Gly288Val) rs797046104
NM_001029896.2(WDR45):c.966dup (p.Val323fs) rs797046105

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.