ClinVar Miner

List of variants in gene OFD1 reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003611.3(OFD1):c.1129+16A>G rs3815049 0.28069
NM_003611.3(OFD1):c.2387+11C>T rs140369491 0.02280
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884 0.00637
NM_003611.3(OFD1):c.1020G>A (p.Glu340=) rs5979959 0.00630
NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu) rs61746932 0.00584
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.2044A>C (p.Ile682Leu) rs148239437 0.00227
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) rs143954823 0.00187
NM_003611.3(OFD1):c.1654+8A>G rs200767363 0.00184
NM_003611.3(OFD1):c.2376G>A (p.Glu792=) rs183241931 0.00026
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) rs142352920 0.00024
NM_003611.3(OFD1):c.1536A>G (p.Gln512=) rs138532127 0.00011
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala) rs797045846 0.00008
NM_003611.3(OFD1):c.2260+8A>G rs768452237 0.00007
NM_003611.3(OFD1):c.2726G>A (p.Arg909Gln) rs371848382 0.00005
NM_003611.3(OFD1):c.1469A>G (p.Glu490Gly) rs754484224 0.00004
NM_003611.3(OFD1):c.1102C>G (p.Leu368Val) rs192285113 0.00003
NM_003611.3(OFD1):c.2078G>A (p.Gly693Glu) rs754615597 0.00002
NM_003611.3(OFD1):c.198G>A (p.Gly66=) rs776103115 0.00001
NM_003611.3(OFD1):c.2140G>A (p.Val714Met) rs797045845 0.00001
NM_003611.3(OFD1):c.2505A>G (p.Pro835=) rs759468353 0.00001
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.1332del (p.Lys444fs) rs587784231
NM_003611.3(OFD1):c.1654+5G>C rs1555906316
NM_003611.3(OFD1):c.1829A>G (p.Asn610Ser) rs373706613
NM_003611.3(OFD1):c.2052C>T (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.231A>C (p.Leu77Phe) rs587784232
NM_003611.3(OFD1):c.2546T>G (p.Met849Arg)
NM_003611.3(OFD1):c.2619T>A (p.Ile873=) rs797045847
NM_003611.3(OFD1):c.2631G>A (p.Lys877=) rs797045848
NM_003611.3(OFD1):c.2758-4A>G rs1555908820
NM_003611.3(OFD1):c.877_878del (p.Met293fs) rs312262858

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.