ClinVar Miner

Variants in gene OAT with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000274.4(OAT):c.969C>T (p.Tyr323=) rs138895801 0.00110
NM_000274.4(OAT):c.1224T>C (p.His408=) rs201864147 0.00073
NM_000274.4(OAT):c.48C>T (p.Arg16=) rs143526711 0.00070
NM_000274.4(OAT):c.107G>C (p.Gly36Ala) rs140786333 0.00019
NM_000274.4(OAT):c.1160-13T>A rs372850085 0.00013
NM_000274.4(OAT):c.478G>A (p.Val160Met) rs148433929 0.00011
NM_000274.4(OAT):c.1015-5C>T rs764963374 0.00009
NM_000274.4(OAT):c.1245G>A (p.Ala415=) rs751449034 0.00002
NM_000274.4(OAT):c.477C>T (p.Thr159=) rs575839041 0.00002
NM_000274.4(OAT):c.606G>A (p.Pro202=) rs369806549 0.00001
NM_000274.4(OAT):c.639C>T (p.Pro213=) rs773314783 0.00001
NM_000274.4(OAT):c.123T>C (p.Asp41=) rs376051303
NM_000274.4(OAT):c.521-6T>G rs369018496
NM_000274.4(OAT):c.966A>T (p.Thr322=) rs1951417723

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.