ClinVar Miner

List of variants in gene LOC121815974, OAT studied for amino acid metabolism disease

Included ClinVar conditions (409):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000274.4(OAT):c.740T>C (p.Met247Thr) rs140966644 0.00021
NM_000274.4(OAT):c.736C>T (p.Leu246=) rs146882296 0.00013
NM_000274.4(OAT):c.649C>T (p.Arg217Cys) rs370970194 0.00005
NM_000274.4(OAT):c.649-17T>C rs766418222 0.00003
NM_000274.4(OAT):c.649-18T>C rs752593582 0.00003
NM_000274.4(OAT):c.650G>A (p.Arg217His) rs774853325 0.00003
NM_000274.4(OAT):c.771+8C>T rs113532454 0.00002
NM_000274.4(OAT):c.771+9G>C rs756798690 0.00002
NM_000274.4(OAT):c.675T>C (p.Ala225=) rs1951496845 0.00001
NM_000274.4(OAT):c.677C>T (p.Ala226Val) rs121965059 0.00001
NM_000274.4(OAT):c.698A>G (p.Gln233Arg) rs386833615 0.00001
NM_000274.4(OAT):c.720T>C (p.Val240=) rs758197065 0.00001
NM_000274.4(OAT):c.721_722dup (p.Asp242fs) rs1468939642 0.00001
NM_000274.4(OAT):c.722C>T (p.Pro241Leu) rs121965051 0.00001
NM_000274.4(OAT):c.734A>G (p.Tyr245Cys) rs121965046 0.00001
NM_000274.4(OAT):c.748C>T (p.Arg250Ter) rs386833617 0.00001
NC_000010.10:g.(?_126086491)_(126100760_?)dup
NM_000274.4(OAT):c.649-13G>A
NM_000274.4(OAT):c.649-14T>C
NM_000274.4(OAT):c.649-1G>C rs551144161
NM_000274.4(OAT):c.649-5T>C
NM_000274.4(OAT):c.649-7T>A rs773438111
NM_000274.4(OAT):c.661_701del (p.Gln220_Asp221insTer)
NM_000274.4(OAT):c.672G>C (p.Val224=) rs2134460257
NM_000274.4(OAT):c.678G>A (p.Ala226=) rs1305977647
NM_000274.4(OAT):c.678G>C (p.Ala226=) rs1305977647
NM_000274.4(OAT):c.678G>T (p.Ala226=) rs1305977647
NM_000274.4(OAT):c.680_702del (p.Ala226_Phe227insTer) rs2134460074
NM_000274.4(OAT):c.681C>T (p.Phe227=) rs777909577
NM_000274.4(OAT):c.697C>T (p.Gln233Ter)
NM_000274.4(OAT):c.710G>A (p.Gly237Asp) rs386833616
NM_000274.4(OAT):c.711C>G (p.Gly237=) rs941484898
NM_000274.4(OAT):c.712G>A (p.Val238Ile)
NM_000274.4(OAT):c.714T>A (p.Val238=)
NM_000274.4(OAT):c.717T>C (p.Val239=)
NM_000274.4(OAT):c.718G>A (p.Val240Ile) rs777488833
NM_000274.4(OAT):c.723G>A (p.Pro241=)
NM_000274.4(OAT):c.723G>C (p.Pro241=) rs765113522
NM_000274.4(OAT):c.742G>T (p.Gly248Ter)
NM_000274.4(OAT):c.748C>A (p.Arg250=) rs386833617
NM_000274.4(OAT):c.749G>C (p.Arg250Pro) rs121965052
NM_000274.4(OAT):c.753G>A (p.Glu251=) rs1589702393
NM_000274.4(OAT):c.756C>T (p.Leu252=)
NM_000274.4(OAT):c.759C>A (p.Cys253Ter)
NM_000274.4(OAT):c.764_771+9delinsTTAGCTGTTTGTATCACACCA
NM_000274.4(OAT):c.771+10T>C rs2134459550
NM_000274.4(OAT):c.771+13G>A
NM_000274.4(OAT):c.771+14C>G
NM_000274.4(OAT):c.771+18_771+21del rs370661606
NM_000274.4(OAT):c.771+20G>A
NM_000274.4(OAT):c.771+2T>C
NM_000274.4(OAT):c.771+8C>G rs113532454
NM_000274.4(OAT):c.771+8_771+10dup
NM_000274.4(OAT):c.771+9G>A rs756798690
NM_000274.4(OAT):c.771_771+7del rs1564731646

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.