ClinVar Miner

List of variants in gene ALOX12B reported as pathogenic by Institute for Human Genetics, University Medical Center Freiburg

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 109
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001139.3(ALOX12B):c.526G>A (p.Glu176Lys) rs149039053 0.00049
NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys) rs199766569 0.00014
NM_001139.3(ALOX12B):c.1163C>T (p.Ala388Val) rs202128350 0.00006
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met) rs199545653 0.00006
NM_001139.3(ALOX12B):c.1654+3A>G rs371537819 0.00006
NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu) rs752509098 0.00005
NM_001139.3(ALOX12B):c.1156C>T (p.Arg386Cys) rs750066836 0.00004
NM_001139.3(ALOX12B):c.1265C>T (p.Pro422Leu) rs774333332 0.00004
NM_001139.3(ALOX12B):c.1272dup (p.Lys425fs) rs763328506 0.00004
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp) rs397514532 0.00003
NM_001139.3(ALOX12B):c.1829C>T (p.Thr610Ile) rs773052129 0.00003
NM_001139.3(ALOX12B):c.1405C>T (p.Arg469Trp) rs559401066 0.00002
NM_001139.3(ALOX12B):c.1148C>T (p.Thr383Met) rs760428119 0.00001
NM_001139.3(ALOX12B):c.1157G>A (p.Arg386His) rs759484732 0.00001
NM_001139.3(ALOX12B):c.1180G>A (p.Glu394Lys) rs397514529 0.00001
NM_001139.3(ALOX12B):c.1192C>T (p.His398Tyr) rs752176414 0.00001
NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter) rs397514527 0.00001
NM_001139.3(ALOX12B):c.1324C>T (p.Arg442Trp) rs764862348 0.00001
NM_001139.3(ALOX12B):c.1325G>A (p.Arg442Gln) rs1028050037 0.00001
NM_001139.3(ALOX12B):c.1427A>G (p.Tyr476Cys) rs1977079083 0.00001
NM_001139.3(ALOX12B):c.1463G>A (p.Arg488His) rs763468558 0.00001
NM_001139.3(ALOX12B):c.1495C>T (p.Arg499Cys) rs368323729 0.00001
NM_001139.3(ALOX12B):c.1787C>T (p.Pro596Leu) rs1360781582 0.00001
NM_001139.3(ALOX12B):c.1936G>A (p.Gly646Arg) rs1398340320 0.00001
NM_001139.3(ALOX12B):c.199A>T (p.Ile67Phe) rs397514533 0.00001
NM_001139.3(ALOX12B):c.209A>C (p.His70Pro) rs1978297441 0.00001
NM_001139.3(ALOX12B):c.299C>T (p.Pro100Leu) rs1256507861 0.00001
NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp) rs397514526 0.00001
NM_001139.3(ALOX12B):c.341G>A (p.Arg114Gln) rs745541957 0.00001
NM_001139.3(ALOX12B):c.353-2A>G rs775524204 0.00001
NM_001139.3(ALOX12B):c.371A>T (p.Asp124Val) rs138503921 0.00001
NM_001139.3(ALOX12B):c.47C>T (p.Ser16Leu) rs147784568 0.00001
NM_001139.3(ALOX12B):c.71T>C (p.Leu24Pro) rs201575829 0.00001
NM_001139.3(ALOX12B):c.938T>C (p.Ile313Thr) rs1197603391 0.00001
NM_001139.3(ALOX12B):c.1015C>G (p.Pro339Ala) rs1977158385
NM_001139.3(ALOX12B):c.1018del (p.Leu340fs) rs1285636957
NM_001139.3(ALOX12B):c.1025T>C (p.Leu342Pro) rs1202860455
NM_001139.3(ALOX12B):c.1057C>A (p.Pro353Thr) rs1977157245
NM_001139.3(ALOX12B):c.1071+1G>C rs1598180319
NM_001139.3(ALOX12B):c.1071+1dup rs1977156997
NM_001139.3(ALOX12B):c.1078C>G (p.Gln360Glu) rs1977105578
NM_001139.3(ALOX12B):c.1127G>A (p.Trp376Ter) rs1977104461
NM_001139.3(ALOX12B):c.1211T>G (p.Leu404Arg) rs1977100621
NM_001139.3(ALOX12B):c.1219G>A (p.Glu407Lys) rs1977100213
NM_001139.3(ALOX12B):c.1258T>G (p.Cys420Gly) rs1598178838
NM_001139.3(ALOX12B):c.1261C>T (p.His421Tyr) rs1977099347
NM_001139.3(ALOX12B):c.1277T>C (p.Leu426Pro) rs137853023
NM_001139.3(ALOX12B):c.1309A>T (p.Ile437Phe) rs1977091512
NM_001139.3(ALOX12B):c.130_131del (p.Asp44fs) rs1978304609
NM_001139.3(ALOX12B):c.1333CTC[1] (p.Leu446del) rs1977090006
NM_001139.3(ALOX12B):c.1349G>A (p.Gly450Glu) rs772257172
NM_001139.3(ALOX12B):c.1350del (p.Leu451fs) rs746723399
NM_001139.3(ALOX12B):c.1369T>C (p.Ser457Pro) rs1977081175
NM_001139.3(ALOX12B):c.1385G>A (p.Gly462Asp) rs774958790
NM_001139.3(ALOX12B):c.1389del (p.Phe463fs) rs387906349
NM_001139.3(ALOX12B):c.1498G>C (p.Asp500His) rs1064796312
NM_001139.3(ALOX12B):c.1533-1G>T rs1977066082
NM_001139.3(ALOX12B):c.1594G>A (p.Glu532Lys) rs768093512
NM_001139.3(ALOX12B):c.1609G>A (p.Val537Met) rs962267153
NM_001139.3(ALOX12B):c.1613A>C (p.Gln538Pro) rs1977062849
NM_001139.3(ALOX12B):c.1630T>C (p.Cys544Arg) rs1364754878
NM_001139.3(ALOX12B):c.1634T>G (p.Leu545Arg) rs1977062403
NM_001139.3(ALOX12B):c.1654+1G>A rs1977061578
NM_001139.3(ALOX12B):c.1655-7C>A rs201543289
NM_001139.3(ALOX12B):c.1669_1681del (p.Arg558fs) rs1977028665
NM_001139.3(ALOX12B):c.1676C>T (p.Thr559Ile) rs1977028854
NM_001139.3(ALOX12B):c.1694G>C (p.Arg565Pro) rs1567980597
NM_001139.3(ALOX12B):c.1732C>T (p.His578Tyr) rs1977027733
NM_001139.3(ALOX12B):c.1734C>A (p.His578Gln) rs137853024
NM_001139.3(ALOX12B):c.1742T>G (p.Val581Gly) rs1977027551
NM_001139.3(ALOX12B):c.1797G>T (p.Met599Ile) rs1977018643
NM_001139.3(ALOX12B):c.1821G>C (p.Lys607Asn) rs1977018125
NM_001139.3(ALOX12B):c.1859C>A (p.Pro620Gln) rs780420901
NM_001139.3(ALOX12B):c.1861G>T (p.Asp621Tyr) rs1977016973
NM_001139.3(ALOX12B):c.1871C>T (p.Thr624Ile) rs1977016836
NM_001139.3(ALOX12B):c.1926+2T>G rs1977016035
NM_001139.3(ALOX12B):c.1937dup (p.His647fs) rs1977011690
NM_001139.3(ALOX12B):c.195_220del (p.Ile66fs) rs1978297341
NM_001139.3(ALOX12B):c.1963G>A (p.Glu655Lys) rs1977010880
NM_001139.3(ALOX12B):c.1977del (p.Arg660fs) rs1230917852
NM_001139.3(ALOX12B):c.2000A>C (p.Gln667Pro) rs1977009717
NM_001139.3(ALOX12B):c.2005_2037dup (p.Leu669_Arg679dup) rs1977008747
NM_001139.3(ALOX12B):c.2012del (p.Gln671fs) rs1977009324
NM_001139.3(ALOX12B):c.2021_2022dup (p.Asp675fs) rs1977009175
NM_001139.3(ALOX12B):c.2035C>A (p.Arg679Ser) rs1977008879
NM_001139.3(ALOX12B):c.2036G>A (p.Arg679His) rs397514528
NM_001139.3(ALOX12B):c.2036G>T (p.Arg679Leu) rs397514528
NM_001139.3(ALOX12B):c.2041A>T (p.Lys681Ter) rs1977008620
NM_001139.3(ALOX12B):c.2060A>G (p.Tyr687Cys) rs1482844053
NM_001139.3(ALOX12B):c.2064C>G (p.Tyr688Ter) rs1977007859
NM_001139.3(ALOX12B):c.208_211dup (p.Lys71fs) rs1978297429
NM_001139.3(ALOX12B):c.2094C>A (p.Ser698Arg) rs1977007343
NM_001139.3(ALOX12B):c.297C>A (p.Phe99Leu) rs1978296717
NM_001139.3(ALOX12B):c.307C>T (p.Gln103Ter) rs1978296625
NM_001139.3(ALOX12B):c.325G>T (p.Glu109Ter) rs536446862
NM_001139.3(ALOX12B):c.416_417del (p.Ala139fs) rs1977208852
NM_001139.3(ALOX12B):c.467_470dup (p.His158fs) rs780867565
NM_001139.3(ALOX12B):c.47C>G (p.Ser16Trp) rs147784568
NM_001139.3(ALOX12B):c.527+1G>A rs1356373737
NM_001139.3(ALOX12B):c.58G>T (p.Asp20Tyr) rs1978305028
NM_001139.3(ALOX12B):c.632_633del (p.Phe211fs) rs1977196635
NM_001139.3(ALOX12B):c.67T>C (p.Ser23Pro) rs1978304974
NM_001139.3(ALOX12B):c.698G>A (p.Trp233Ter) rs1977185603
NM_001139.3(ALOX12B):c.734_745del (p.Gly245_Ser248del) rs1977184377
NM_001139.3(ALOX12B):c.845delinsAA (p.Arg282fs) rs1977170208
NM_001139.3(ALOX12B):c.864del (p.Val289fs) rs1977169495
NM_001139.3(ALOX12B):c.893T>C (p.Leu298Pro) rs1977168456
NM_001139.3(ALOX12B):c.928-1G>C rs1977161156
NM_001139.3(ALOX12B):c.938_941dup (p.Ala316fs) rs1977160664

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.