ClinVar Miner

List of variants in gene OFD1 reported as likely benign for Joubert syndrome 17

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884 0.00637
NM_003611.3(OFD1):c.2929-18C>T rs180940027 0.00601
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr) rs149647255 0.00381
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_003611.3(OFD1):c.1654+14T>A rs192720874 0.00131
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) rs142352920 0.00024
NM_003611.3(OFD1):c.2260+12G>A rs375507459 0.00023
NM_003611.3(OFD1):c.2235C>T (p.Ser745=) rs372503752 0.00015
NM_003611.3(OFD1):c.795G>A (p.Lys265=) rs745443262 0.00011
NM_003611.3(OFD1):c.2928+18A>G rs756838502 0.00010
NM_003611.3(OFD1):c.1271A>G (p.Asn424Ser) rs532274932 0.00009
NM_003611.3(OFD1):c.282C>T (p.Phe94=) rs762169661 0.00006
NM_003611.3(OFD1):c.2992G>A (p.Glu998Lys) rs772233258 0.00006
NM_003611.3(OFD1):c.1347A>G (p.Ala449=) rs151287373 0.00005
NM_003611.3(OFD1):c.494C>T (p.Ser165Leu) rs756793358 0.00004
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala) rs529916753 0.00003
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val) rs779051357 0.00003
NM_003611.3(OFD1):c.688A>G (p.Ile230Val) rs770131832 0.00003
NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys) rs1260959326 0.00002
NM_003611.3(OFD1):c.216C>A (p.Gly72=) rs369907022
NM_003611.3(OFD1):c.2488+14_2488+19del rs781190242
NM_003611.3(OFD1):c.2996+16AC[2] rs761270089
NM_003611.3(OFD1):c.517+13_517+14delinsGC rs2146959704

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.