ClinVar Miner

List of variants in gene combination CDCA7L, DNAH11 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: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018719.5(CDCA7L):c.*1246G>A rs72658835 0.00004
NM_001277115.2(DNAH11):c.13346_13367del (p.Arg4449fs) rs1257886811
NM_001277115.2(DNAH11):c.13421_13453del (p.Gln4474_Lys4484del) rs771508476
NM_001277115.2(DNAH11):c.13472_13490dup (p.Lys4497fs)
NM_001277115.2(DNAH11):c.13494_13500del (p.Ser4498fs) rs1212535211
NM_001277115.2(DNAH11):c.13512_13525del (p.Trp4505fs) rs2128053554
NM_001277115.2(DNAH11):c.13515_13526dup (p.Leu4507_Val4510dup) rs1254126467
NM_001277115.2(DNAH11):c.13523_13524insCTGGAGTGGCTCTGCTTCTAG (p.Ala4508_Gly4509insTrpSerGlySerAlaSerSer)
NM_001277115.2(DNAH11):c.13523_13543dup (p.Ala4508_Leu4514dup) rs1784814248

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.