ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 228
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HGVS dbSNP gnomAD frequency
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu) rs147149459 0.00105
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp) rs199422217 0.00077
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_021628.3(ALOXE3):c.700C>T (p.Arg234Ter) rs121434233 0.00013
NM_173483.4(CYP4F22):c.59dup (p.Ile21fs) rs531800013 0.00011
NM_173483.4(CYP4F22):c.1303C>T (p.His435Tyr) rs118203935 0.00008
NM_001099287.2(NIPAL4):c.239G>T (p.Gly80Val) rs775903553 0.00006
NM_001099287.2(NIPAL4):c.277+5G>A rs376074083 0.00006
NM_001099287.2(NIPAL4):c.703G>A (p.Gly235Arg) rs375688767 0.00006
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_173483.4(CYP4F22):c.667C>T (p.Gln223Ter) rs199892192 0.00006
NM_173483.4(CYP4F22):c.976C>T (p.Arg326Ter) rs762667660 0.00006
NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu) rs752509098 0.00005
NM_001139.3(ALOX12B):c.1265C>T (p.Pro422Leu) rs774333332 0.00004
NM_001139.3(ALOX12B):c.1272dup (p.Lys425fs) rs763328506 0.00004
NM_021628.3(ALOXE3):c.1031A>C (p.Gln344Pro) rs142781546 0.00004
NM_021628.3(ALOXE3):c.397A>G (p.Arg133Gly) rs373520842 0.00004
NM_021628.3(ALOXE3):c.680+1G>A rs764781178 0.00004
NM_001139.3(ALOX12B):c.1156C>T (p.Arg386Cys) rs750066836 0.00003
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_173483.4(CYP4F22):c.712G>A (p.Ala238Thr) rs572278771 0.00003
NM_173483.4(CYP4F22):c.847C>T (p.Arg283Trp) rs755885838 0.00003
NM_001139.3(ALOX12B):c.1405C>T (p.Arg469Trp) rs559401066 0.00002
NM_173483.4(CYP4F22):c.1114C>T (p.Arg372Trp) rs201129618 0.00002
NM_001099287.2(NIPAL4):c.502G>A (p.Gly168Arg) rs370356566 0.00001
NM_001099287.2(NIPAL4):c.523C>G (p.His175Asp) rs750991783 0.00001
NM_001099287.2(NIPAL4):c.523del (p.His175fs) rs1212378071 0.00001
NM_001099287.2(NIPAL4):c.658G>A (p.Gly220Arg) rs757041309 0.00001
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_021628.3(ALOXE3):c.1786-2A>G rs139375856 0.00001
NM_021628.3(ALOXE3):c.271G>T (p.Glu91Ter) rs367827093 0.00001
NM_021628.3(ALOXE3):c.923T>C (p.Leu308Pro) rs764052154 0.00001
NM_021628.3(ALOXE3):c.952dup (p.Leu318fs) rs1472087421 0.00001
NM_173483.4(CYP4F22):c.1064C>T (p.Pro355Leu) rs760727576 0.00001
NM_173483.4(CYP4F22):c.1084C>T (p.Arg362Ter) rs745368359 0.00001
NM_173483.4(CYP4F22):c.1085G>A (p.Arg362Gln) rs769229606 0.00001
NM_173483.4(CYP4F22):c.314C>T (p.Pro105Leu) rs749972738 0.00001
NM_173483.4(CYP4F22):c.421+1G>A rs773886415 0.00001
NM_173483.4(CYP4F22):c.466C>T (p.Arg156Cys) rs770500550 0.00001
NM_173483.4(CYP4F22):c.467G>A (p.Arg156His) rs776275777 0.00001
NM_173483.4(CYP4F22):c.697A>C (p.Ile233Leu) rs1568361250 0.00001
NM_173483.4(CYP4F22):c.727C>T (p.Arg243Cys) rs768098854 0.00001
NM_173483.4(CYP4F22):c.728G>A (p.Arg243His) rs118203937 0.00001
NM_173483.4(CYP4F22):c.844C>T (p.Arg282Trp) rs767352854 0.00001
NM_177973.2(SULT2B1):c.821G>A (p.Arg274Gln) rs762765702 0.00001
NM_203446.3(SYNJ1):c.656G>A (p.Arg219Gln) rs398122403 0.00001
NM_001099287.1(NIPAL4):c.2T>C (p.Met1Thr) rs1581262988
NM_001099287.2(NIPAL4):c.1082del (p.Asn361fs) rs1581273254
NM_001099287.2(NIPAL4):c.221T>A (p.Val74Asp) rs1581265715
NM_001099287.2(NIPAL4):c.247C>T (p.Arg83Ter) rs199422216
NM_001099287.2(NIPAL4):c.284G>A (p.Gly95Glu) rs900769357
NM_001099287.2(NIPAL4):c.348A>C (p.Glu116Asp) rs371608909
NM_001099287.2(NIPAL4):c.369C>G (p.Tyr123Ter) rs777992589
NM_001099287.2(NIPAL4):c.37+5G>C rs1452328130
NM_001099287.2(NIPAL4):c.425+1G>A rs1581269752
NM_001099287.2(NIPAL4):c.426-3del rs1581271844
NM_001099287.2(NIPAL4):c.437C>T (p.Ser146Phe) rs1581271869
NM_001099287.2(NIPAL4):c.509C>G (p.Thr170Arg) rs1581272003
NM_001099287.2(NIPAL4):c.586+1G>A rs1561831582
NM_001099287.2(NIPAL4):c.650C>T (p.Pro217Leu) rs1027052344
NM_001099287.2(NIPAL4):c.753C>G (p.Asn251Lys) rs1581272834
NM_001099287.2(NIPAL4):c.828C>A (p.Ser276Arg) rs886060339
NM_001099287.2(NIPAL4):c.97del (p.Leu33fs) rs1581265561
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.769C>G (p.His257Asp) rs1233776328
NM_001139.3(ALOX12B):c.771_772del (p.His257fs) rs1977172596
NM_001139.3(ALOX12B):c.786CTT[1] (p.Phe264del) rs1302782570
NM_001139.3(ALOX12B):c.793G>A (p.Gly265Arg) rs1977171852
NM_001139.3(ALOX12B):c.814G>T (p.Val272Phe) rs1308351316
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
NM_001382267.1(SERPINA12):c.1051G>T (p.Glu351Ter)
NM_001382267.1(SERPINA12):c.631C>T (p.Arg211Ter)
NM_021628.2:c.435-?_554+?del
NM_021628.3(ALOXE3):c.1031_1039del (p.Gln344_Ala347delinsPro) rs1979966591
NM_021628.3(ALOXE3):c.1061G>A (p.Trp354Ter) rs767046669
NM_021628.3(ALOXE3):c.1164G>T (p.Trp388Cys) rs1979931284
NM_021628.3(ALOXE3):c.1186C>A (p.Arg396Ser) rs121434234
NM_021628.3(ALOXE3):c.1193C>T (p.Ser398Phe) rs1979924544
NM_021628.3(ALOXE3):c.1202T>A (p.Leu401Gln) rs761241768
NM_021628.3(ALOXE3):c.1208A>G (p.His403Arg) rs1296095311
NM_021628.3(ALOXE3):c.1246T>C (p.Cys416Arg) rs1979917479
NM_021628.3(ALOXE3):c.1280T>C (p.Leu427Pro) rs1355284797
NM_021628.3(ALOXE3):c.1292dup (p.His431fs) rs1567999431
NM_021628.3(ALOXE3):c.1305+1_1305+2delinsTA rs1979909742
NM_021628.3(ALOXE3):c.1393-1G>A rs1979807431
NM_021628.3(ALOXE3):c.1498G>T (p.Val500Phe) rs121434232
NM_021628.3(ALOXE3):c.1786-63_1807del rs1979055447
NM_021628.3(ALOXE3):c.1803_1804dup (p.Met602fs) rs1979055873
NM_021628.3(ALOXE3):c.1812T>A (p.Asn604Lys) rs568695601
NM_021628.3(ALOXE3):c.1937_1944del (p.Ser646fs) rs1979042162
NM_021628.3(ALOXE3):c.1954C>T (p.Gln652Ter) rs1163280866
NM_021628.3(ALOXE3):c.308A>C (p.Gln103Pro) rs1980629564
NM_021628.3(ALOXE3):c.327C>A (p.Cys109Ter) rs1980627156
NM_021628.3(ALOXE3):c.353-1G>C rs1980522554
NM_021628.3(ALOXE3):c.38_41del (p.Pro12_Tyr13insTer) rs769980324
NM_021628.3(ALOXE3):c.57_63del (p.Asp20fs) rs1980748884
NM_021628.3(ALOXE3):c.631C>T (p.Arg211Ter) rs141340759
NM_021628.3(ALOXE3):c.758del (p.Phe253fs) rs1980145171
NM_021628.3(ALOXE3):c.833A>G (p.Tyr278Cys) rs1980084767
NM_021628.3(ALOXE3):c.957G>A (p.Glu319=) rs1427770703
NM_173483.3(CYP4F22):c.1138del rs1568364107
NM_173483.4(CYP4F22):c.1084C>G (p.Arg362Gly) rs745368359
NM_173483.4(CYP4F22):c.1137-18_1137-4del rs1568364101
NM_173483.4(CYP4F22):c.1163C>A (p.Thr388Lys) rs1568364117
NM_173483.4(CYP4F22):c.1306C>G (p.His436Asp) rs118203936
NM_173483.4(CYP4F22):c.1351C>T (p.Arg451Cys) rs200581968
NM_173483.4(CYP4F22):c.1352G>C (p.Arg451Pro) rs144961059
NM_173483.4(CYP4F22):c.1424G>A (p.Cys475Tyr) rs1403531884
NM_173483.4(CYP4F22):c.1488C>G (p.Phe496Leu) rs1568365205
NM_173483.4(CYP4F22):c.1532A>G (p.Glu511Gly) rs1167473603
NM_173483.4(CYP4F22):c.1563G>A (p.Trp521Ter) rs1360295659
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu) rs118091316
NM_173483.4(CYP4F22):c.242G>A (p.Gly81Asp) rs369811073
NM_173483.4(CYP4F22):c.367+1G>A rs1568357749
NM_173483.4(CYP4F22):c.429dup (p.Leu144fs) rs1382435790
NM_173483.4(CYP4F22):c.493_499delinsCTTGATT (p.Phe165_Ile167delinsLeuAspPhe) rs1568360348
NM_173483.4(CYP4F22):c.549+5G>C rs1568360387
NM_173483.4(CYP4F22):c.550-2A>T rs1568360475
NM_173483.4(CYP4F22):c.592G>T (p.Asp198Tyr) rs1568360526
NM_173483.4(CYP4F22):c.643_644del (p.Val215fs) rs1568360554
NM_173483.4(CYP4F22):c.720_723del (p.Val241fs) rs751937099
NM_173483.4(CYP4F22):c.912C>A (p.Asp304Glu) rs1159994392
NM_173483.4(CYP4F22):c.917T>C (p.Ile306Thr) rs370734976
NM_173483.4(CYP4F22):c.940-1G>A rs1568362605
NM_173483.4(CYP4F22):c.981del (p.Glu328fs) rs1568362644
NM_177973.2(SULT2B1):c.364dup (p.Met122fs) rs1114167425
NM_177973.2(SULT2B1):c.446C>T (p.Pro149Leu) rs1114167424
NM_177973.2(SULT2B1):c.71+2T>A rs1114167426
NM_203446.3(SYNJ1):c.395G>A (p.Trp132Ter) rs1555907463
NM_203475.3(PORCN):c.1023+2T>A rs1556975151

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