ClinVar Miner

List of variants in gene OFD1 reported as pathogenic for Joubert syndrome

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter) rs758903488 0.00001
NM_003611.3(OFD1):c.149A>G (p.His50Arg) rs863225213 0.00001
NC_000023.10:g.(?_13753081)_(13765093_?)del
NC_000023.11:g.(?_13735066)_(13769113_?)del
NM_003611.3(OFD1):c.1099C>T (p.Arg367Ter) rs312262863
NM_003611.3(OFD1):c.1114G>T (p.Glu372Ter)
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter) rs312262810
NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter) rs1569141500
NM_003611.3(OFD1):c.1411+1G>A rs2147027077
NM_003611.3(OFD1):c.1651_1654del (p.Thr551fs)
NM_003611.3(OFD1):c.1743C>A (p.Cys581Ter)
NM_003611.3(OFD1):c.1927G>T (p.Glu643Ter)
NM_003611.3(OFD1):c.1980dup (p.Ala661fs) rs2047883109
NM_003611.3(OFD1):c.198del (p.Ser67fs)
NM_003611.3(OFD1):c.2101C>T (p.Gln701Ter)
NM_003611.3(OFD1):c.2126_2129del (p.Glu709fs) rs312262890
NM_003611.3(OFD1):c.2395C>T (p.Arg799Ter)
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys) rs312262818
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter) rs863225212
NM_003611.3(OFD1):c.2689dup (p.Arg897fs)
NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter) rs1060500123
NM_003611.3(OFD1):c.2745_2746del (p.Tyr916fs) rs2147082213
NM_003611.3(OFD1):c.2746dup (p.Tyr916fs) rs1569163423
NM_003611.3(OFD1):c.2767del (p.Glu923fs) rs312262894
NM_003611.3(OFD1):c.277G>T (p.Val93Phe) rs863225211
NM_003611.3(OFD1):c.2789_2793del (p.Ile930fs) rs797044945
NM_003611.3(OFD1):c.2797G>T (p.Glu933Ter) rs1569164733
NM_003611.3(OFD1):c.2815G>T (p.Glu939Ter) rs1569164829
NM_003611.3(OFD1):c.2844_2850del (p.Lys948fs) rs312262895
NM_003611.3(OFD1):c.308_312del (p.Glu103fs)
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003611.3(OFD1):c.560dup (p.Tyr187Ter) rs1555902640
NM_003611.3(OFD1):c.565C>T (p.Gln189Ter) rs2047298129
NM_003611.3(OFD1):c.599T>C (p.Leu200Pro) rs2047299277
NM_003611.3(OFD1):c.616_617del (p.Glu206fs)
NM_003611.3(OFD1):c.689_706del (p.Ile230_Lys235del) rs398122866
NM_003611.3(OFD1):c.710del (p.Lys237fs) rs312262845
NM_003611.3(OFD1):c.710dup (p.Tyr238fs) rs312262845
NM_003611.3(OFD1):c.748G>T (p.Glu250Ter) rs1555902866
NM_003611.3(OFD1):c.794dup (p.Ser266fs) rs2047318775
NM_003611.3(OFD1):c.877_878del (p.Met293fs) rs312262858
NM_003611.3(OFD1):c.905_906del (p.Glu302fs) rs2146984250
NM_003611.3(OFD1):c.915_916del (p.Arg306fs) rs1569128307

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.