ClinVar Miner

List of variants in gene MBOAT7 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024298.5(MBOAT7):c.1364G>A (p.Arg455Gln) rs79199039 0.00877
NM_024298.5(MBOAT7):c.-3-3C>T rs112360756 0.00305
NM_024298.5(MBOAT7):c.546C>T (p.Pro182=) rs754522503 0.00035
NM_024298.5(MBOAT7):c.930C>T (p.Cys310=) rs149699444 0.00007
NM_024298.5(MBOAT7):c.1126G>A (p.Glu376Lys) rs758805684 0.00002
NM_024298.5(MBOAT7):c.678G>A (p.Pro226=) rs529954463 0.00002
NM_024298.5(MBOAT7):c.1037C>T (p.Ala346Val) rs1600619113
NM_024298.5(MBOAT7):c.1325GGCTGG[3] (p.442GL[3]) rs769359319
NM_024298.5(MBOAT7):c.1350C>A (p.Gly450=)
NM_024298.5(MBOAT7):c.1361G>A (p.Arg454Gln)
NM_024298.5(MBOAT7):c.2T>G (p.Met1Arg) rs1555843941
NM_024298.5(MBOAT7):c.571C>T (p.Leu191=)
NM_024298.5(MBOAT7):c.653G>C (p.Arg218Pro) rs185682596
NM_024298.5(MBOAT7):c.654C>G (p.Arg218=)
NM_024298.5(MBOAT7):c.756C>T (p.Ala252=)
NM_024298.5(MBOAT7):c.758_778del (p.Glu253_Ala259del) rs750035706
NM_024298.5(MBOAT7):c.843A>C (p.Pro281=)
NM_024298.5(MBOAT7):c.849dup (p.Ser284fs)
NM_024298.5(MBOAT7):c.967del (p.Thr323fs)
NM_024298.5(MBOAT7):c.989A>G (p.Gln330Arg) rs1298644481

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.