ClinVar Miner

List of variants in gene combination LOC126863212, OFD1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003611.3(OFD1):c.-296G>T rs2285635 0.26632
NC_000023.11:g.13734693C>A rs16979167 0.00670
NM_003611.3(OFD1):c.111+163C>T rs150287655 0.00652
NM_003611.3(OFD1):c.-315G>C rs188480668 0.00629
NM_003611.3(OFD1):c.13-59T>G rs776891715 0.00306
NM_003611.3(OFD1):c.12+28G>C rs181620366 0.00193
NM_003611.3(OFD1):c.54A>G (p.Glu18=) rs147114577 0.00027
NM_003611.3(OFD1):c.-19C>G rs377742225 0.00026
NC_000023.11:g.13734708T>G rs113360545
NM_003611.3(OFD1):c.-40C>T rs2146901723
NM_003611.3(OFD1):c.111+2T>C rs312262809
NM_003611.3(OFD1):c.12+79T>G rs141160969
NM_003611.3(OFD1):c.28G>C (p.Val10Leu)
NM_003611.3(OFD1):c.2del (p.Met1fs) rs770656547
NM_003611.3(OFD1):c.50A>G (p.Asp17Gly) rs2146904488
NM_003611.3(OFD1):c.72C>A (p.Tyr24Ter) rs886041737
NM_003611.3(OFD1):c.89G>A (p.Arg30Gln) rs1060500185
NM_003611.3(OFD1):c.97C>G (p.Leu33Val) rs1405556367

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.