ClinVar Miner

List of variants in gene MBOAT7 reported as uncertain significance for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024298.5(MBOAT7):c.1006G>A (p.Ala336Thr) rs202020450 0.00030
NM_024298.5(MBOAT7):c.1363C>T (p.Arg455Trp) rs142954889 0.00011
NM_024298.5(MBOAT7):c.661G>A (p.Ala221Thr) rs763217778 0.00009
NM_024298.5(MBOAT7):c.754G>A (p.Ala252Thr) rs766679693 0.00007
NM_024298.5(MBOAT7):c.931G>A (p.Val311Met) rs369198461 0.00006
NM_024298.5(MBOAT7):c.1030C>T (p.Arg344Trp) rs200105516 0.00005
NM_024298.5(MBOAT7):c.1366A>G (p.Lys456Glu) rs774928119 0.00004
NM_024298.5(MBOAT7):c.1243G>A (p.Val415Met) rs35909464 0.00003
NM_024298.5(MBOAT7):c.1325G>T (p.Gly442Val) rs372936043 0.00003
NM_024298.5(MBOAT7):c.1361G>A (p.Arg454Gln) rs759231014 0.00003
NM_024298.5(MBOAT7):c.1372G>T (p.Ala458Ser) rs187952084 0.00003
NM_024298.5(MBOAT7):c.41T>A (p.Ile14Asn) rs909640138 0.00003
NM_024298.5(MBOAT7):c.725G>A (p.Arg242His) rs530531478 0.00003
NM_024298.5(MBOAT7):c.1165C>T (p.Pro389Ser) rs915235935 0.00001
NM_024298.5(MBOAT7):c.1214G>A (p.Arg405His) rs201813053 0.00001
NM_024298.5(MBOAT7):c.1220A>G (p.Tyr407Cys) rs1568770207 0.00001
NM_024298.5(MBOAT7):c.1293C>A (p.Phe431Leu) rs774674992 0.00001
NM_024298.5(MBOAT7):c.1408C>T (p.Arg470Trp) rs753504958 0.00001
NM_024298.5(MBOAT7):c.185C>T (p.Ala62Val) rs1028916397 0.00001
NM_024298.5(MBOAT7):c.286A>G (p.Thr96Ala) rs746338307 0.00001
NM_024298.5(MBOAT7):c.395C>T (p.Ser132Leu) rs755980243 0.00001
NM_024298.5(MBOAT7):c.565C>T (p.Arg189Trp) rs752132040 0.00001
NM_024298.5(MBOAT7):c.568C>T (p.Pro190Ser) rs1417113738 0.00001
NM_024298.5(MBOAT7):c.698A>G (p.Tyr233Cys) rs544377469 0.00001
NM_024298.5(MBOAT7):c.728T>C (p.Met243Thr) rs753220219 0.00001
NM_024298.5(MBOAT7):c.742G>A (p.Ala248Thr) rs755372797 0.00001
NM_024298.5(MBOAT7):c.761G>A (p.Cys254Tyr) rs773274817 0.00001
NM_024298.5(MBOAT7):c.907G>A (p.Asp303Asn) rs557746011 0.00001
NM_024298.5(MBOAT7):c.953G>A (p.Arg318Gln) rs763676201 0.00001
NM_024298.5(MBOAT7):c.1006_1009dup (p.Pro337fs) rs2076182917
NM_024298.5(MBOAT7):c.1010C>T (p.Pro337Leu)
NM_024298.5(MBOAT7):c.1016G>A (p.Arg339His) rs761264534
NM_024298.5(MBOAT7):c.1030C>G (p.Arg344Gly)
NM_024298.5(MBOAT7):c.1150C>T (p.Arg384Trp)
NM_024298.5(MBOAT7):c.1151G>C (p.Arg384Pro)
NM_024298.5(MBOAT7):c.1163G>A (p.Ser388Asn)
NM_024298.5(MBOAT7):c.1189T>C (p.Trp397Arg)
NM_024298.5(MBOAT7):c.1216G>T (p.Ala406Ser) rs745322441
NM_024298.5(MBOAT7):c.121C>G (p.Leu41Val)
NM_024298.5(MBOAT7):c.1289A>G (p.Tyr430Cys)
NM_024298.5(MBOAT7):c.1303T>C (p.Phe435Leu)
NM_024298.5(MBOAT7):c.130T>C (p.Phe44Leu) rs2515303580
NM_024298.5(MBOAT7):c.1397C>T (p.Pro466Leu)
NM_024298.5(MBOAT7):c.1400A>G (p.Glu467Gly) rs1458786542
NM_024298.5(MBOAT7):c.1402A>C (p.Lys468Gln) rs761850542
NM_024298.5(MBOAT7):c.1403A>T (p.Lys468Met) rs754722210
NM_024298.5(MBOAT7):c.1404G>T (p.Lys468Asn) rs2515029983
NM_024298.5(MBOAT7):c.1415A>G (p.Glu472Gly) rs1431689941
NM_024298.5(MBOAT7):c.172C>A (p.Leu58Ile) rs1036844220
NM_024298.5(MBOAT7):c.326C>T (p.Thr109Met)
NM_024298.5(MBOAT7):c.390G>T (p.Met130Ile)
NM_024298.5(MBOAT7):c.49C>A (p.Pro17Thr)
NM_024298.5(MBOAT7):c.506G>A (p.Arg169His) rs1162370234
NM_024298.5(MBOAT7):c.511C>T (p.Arg171Cys)
NM_024298.5(MBOAT7):c.545C>A (p.Pro182His)
NM_024298.5(MBOAT7):c.55G>A (p.Gly19Ser)
NM_024298.5(MBOAT7):c.578G>A (p.Arg193His)
NM_024298.5(MBOAT7):c.581G>A (p.Arg194His)
NM_024298.5(MBOAT7):c.638C>A (p.Pro213Gln)
NM_024298.5(MBOAT7):c.689G>T (p.Arg230Leu)
NM_024298.5(MBOAT7):c.709G>A (p.Val237Ile)
NM_024298.5(MBOAT7):c.718G>T (p.Ala240Ser) rs371452356
NM_024298.5(MBOAT7):c.730C>T (p.Arg244Cys)
NM_024298.5(MBOAT7):c.797T>G (p.Val266Gly) rs2515176524
NM_024298.5(MBOAT7):c.807A>C (p.Lys269Asn) rs2515176191
NM_024298.5(MBOAT7):c.812G>A (p.Arg271Gln) rs755319900
NM_024298.5(MBOAT7):c.857C>G (p.Pro286Arg) rs757489929
NM_024298.5(MBOAT7):c.865G>T (p.Ala289Ser)
NM_024298.5(MBOAT7):c.887A>G (p.Tyr296Cys)
NM_024298.5(MBOAT7):c.929G>A (p.Cys310Tyr) rs2515147126
NM_024298.5(MBOAT7):c.932T>G (p.Val311Gly) rs2515146944
NM_024298.5(MBOAT7):c.935G>A (p.Arg312Gln) rs748238566
NM_024298.5(MBOAT7):c.941G>A (p.Arg314His) rs377603361
NM_024298.5(MBOAT7):c.974A>G (p.Gln325Arg)
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.