ClinVar Miner

List of variants in gene WDR35 reported as likely pathogenic for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_020779.4(WDR35):c.2415-2A>G rs143550695 0.00005
NM_020779.4(WDR35):c.1255+1G>A rs371669862 0.00004
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783 0.00003
NM_020779.4(WDR35):c.1400+3A>G rs776631281 0.00001
NM_001006657.2(WDR35):c.1195-2A>T
NM_020779.4(WDR35):c.1255+1G>C rs371669862
NM_020779.4(WDR35):c.1400G>A (p.Arg467Lys) rs1558342399
NM_020779.4(WDR35):c.1525-2A>T
NM_020779.4(WDR35):c.1846-30_1848del rs1553317813
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_020779.4(WDR35):c.2489A>T (p.Asp830Val) rs1553316926
NM_020779.4(WDR35):c.504T>A (p.Ser168Arg) rs397515536
NM_020779.4(WDR35):c.570+2T>G

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.