ClinVar Miner

List of variants in gene OFD1 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003611.3(OFD1):c.1654+9C>T rs200007045 0.00044
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) rs142352920 0.00024
NM_003611.3(OFD1):c.1730A>G (p.Asn577Ser) rs200465596 0.00017
NM_003611.3(OFD1):c.2235C>T (p.Ser745=) rs372503752 0.00015
NM_003611.3(OFD1):c.1536A>G (p.Gln512=) rs138532127 0.00011
NM_003611.3(OFD1):c.1961G>A (p.Arg654Gln) rs746612831 0.00011
NM_003611.3(OFD1):c.936-2A>G rs199902986 0.00011
NM_003611.3(OFD1):c.2260+8A>G rs768452237 0.00007
NM_003611.3(OFD1):c.2319A>G (p.Pro773=) rs752137789 0.00007
NM_003611.3(OFD1):c.1634A>G (p.Gln545Arg) rs373792491 0.00006
NM_003611.3(OFD1):c.1930C>T (p.Arg644Cys) rs185831378 0.00006
NM_003611.3(OFD1):c.858G>A (p.Arg286=) rs778507612 0.00005
NM_003611.3(OFD1):c.1400G>A (p.Arg467His) rs375577267 0.00002
NM_003611.3(OFD1):c.2078G>A (p.Gly693Glu) rs754615597 0.00002
NM_003611.3(OFD1):c.2927A>C (p.Lys976Thr) rs1458317780 0.00002
NM_003611.3(OFD1):c.815A>G (p.His272Arg) rs781277679 0.00002
NM_003611.3(OFD1):c.1056G>T (p.Lys352Asn)
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.1248G>C (p.Gln416His)
NM_003611.3(OFD1):c.126C>T (p.Asn42=)
NM_003611.3(OFD1):c.1309T>A (p.Tyr437Asn)
NM_003611.3(OFD1):c.1366C>T (p.Gln456Ter) rs746875019
NM_003611.3(OFD1):c.1425G>T (p.Pro475=)
NM_003611.3(OFD1):c.1751A>G (p.Glu584Gly) rs2047874237
NM_003611.3(OFD1):c.1795G>A (p.Val599Ile)
NM_003611.3(OFD1):c.1803A>G (p.Ala601=) rs770394963
NM_003611.3(OFD1):c.1944T>C (p.Ala648=)
NM_003611.3(OFD1):c.2227A>G (p.Lys743Glu)
NM_003611.3(OFD1):c.230T>C (p.Leu77Ser) rs1555900746
NM_003611.3(OFD1):c.2600-18_2600delinsAACT
NM_003611.3(OFD1):c.2918C>T (p.Ser973Leu)
NM_003611.3(OFD1):c.829-6A>C rs372044938
NM_003611.3(OFD1):c.935+595A>G
NM_003611.3(OFD1):c.935+628T>C

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.