ClinVar Miner

List of variants reported as likely pathogenic for Kartagener syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012144.4(DNAI1):c.389-1G>C rs200488444 0.00046
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter) rs200669099 0.00006
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp) rs376252276 0.00005
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter) rs926347298 0.00004
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp) rs202213517 0.00004
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser) rs79833450 0.00003
NM_001369.3(DNAH5):c.4530del (p.Asn1511fs) rs1554082275
NM_001369.3(DNAH5):c.6000C>A (p.Tyr2000Ter) rs773208371
NM_012144.4(DNAI1):c.1003G>T (p.Val335Phe) rs11793196
NM_012144.4(DNAI1):c.1019G>A (p.Trp340Ter)
NM_012144.4(DNAI1):c.1307G>A (p.Trp436Ter) rs769284314
NM_012144.4(DNAI1):c.1311+2T>A rs1587085165
NM_012144.4(DNAI1):c.1311+2T>C rs1587085165
NM_012144.4(DNAI1):c.1688G>A (p.Trp563Ter) rs2132083938
NM_012144.4(DNAI1):c.1871del (p.Pro624fs) rs1168493593
NM_012144.4(DNAI1):c.817-2A>G rs2132068900
NM_017950.4(CCDC40):c.1989+1G>A rs745993158
NM_145038.5(DRC1):c.156-1724_244-2550del

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.