ClinVar Miner

List of variants studied for autosomal recessive congenital ichthyosis 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 223
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HGVS dbSNP gnomAD frequency
NM_001139.3(ALOX12B):c.1532+30T>C rs2289586 0.86344
NM_001139.3(ALOX12B):c.1655-30T>C rs12937410 0.85718
NM_001139.3(ALOX12B):c.650+7C>G rs2304908 0.42027
NM_001139.3(ALOX12B):c.-155T>C rs2278635 0.41263
NM_001139.3(ALOX12B):c.42C>T (p.Leu14=) rs3027308 0.03900
NM_001139.3(ALOX12B):c.-158G>T rs116492351 0.03320
NM_001139.3(ALOX12B):c.379C>T (p.Pro127Ser) rs72842957 0.01485
NM_001139.3(ALOX12B):c.280G>A (p.Gly94Ser) rs8077661 0.00924
NM_001139.3(ALOX12B):c.1179C>T (p.His393=) rs112835279 0.00365
NM_001139.3(ALOX12B):c.135T>C (p.Phe45=) rs117483056 0.00218
NM_001139.3(ALOX12B):c.324C>T (p.Tyr108=) rs116399915 0.00187
NM_001139.3(ALOX12B):c.1394G>T (p.Gly465Val) rs145344421 0.00170
NM_001139.3(ALOX12B):c.1533-11C>G rs199760981 0.00167
NM_001139.3(ALOX12B):c.-48C>A rs370936922 0.00118
NM_001139.3(ALOX12B):c.222C>T (p.Tyr74=) rs74896368 0.00071
NM_001139.3(ALOX12B):c.*66C>T rs74252603 0.00064
NM_001139.3(ALOX12B):c.526G>A (p.Glu176Lys) rs149039053 0.00049
NM_001139.3(ALOX12B):c.-141C>T rs960349510 0.00040
NM_001139.3(ALOX12B):c.1565C>T (p.Pro522Leu) rs150371678 0.00035
NM_001139.3(ALOX12B):c.528-8C>T rs200448967 0.00026
NM_001139.3(ALOX12B):c.*101A>G rs577124811 0.00025
NM_001139.3(ALOX12B):c.1362+4A>C rs374549612 0.00021
NM_001139.3(ALOX12B):c.1655-9G>A rs751773510 0.00021
NM_001139.3(ALOX12B):c.1040C>T (p.Pro347Leu) rs145726040 0.00016
NM_001139.3(ALOX12B):c.144G>A (p.Gly48=) rs146260899 0.00016
NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys) rs199766569 0.00014
NM_001139.3(ALOX12B):c.1586G>A (p.Gly529Asp) rs145046775 0.00014
NM_001139.3(ALOX12B):c.380C>T (p.Pro127Leu) rs141890029 0.00013
NM_001139.3(ALOX12B):c.1854G>T (p.Thr618=) rs542074777 0.00012
NM_001139.3(ALOX12B):c.1050G>A (p.Lys350=) rs144280751 0.00009
NM_001139.3(ALOX12B):c.48G>A (p.Ser16=) rs149687727 0.00008
NM_001139.3(ALOX12B):c.-199G>A rs886053576 0.00007
NM_001139.3(ALOX12B):c.1158dup (p.Tyr387fs) rs759653224 0.00007
NM_001139.3(ALOX12B):c.715A>G (p.Ile239Val) rs371937340 0.00007
NM_001139.3(ALOX12B):c.-212C>T rs886053578 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_001139.3(ALOX12B):c.1756-9C>T rs886053562 0.00006
NM_001139.3(ALOX12B):c.1497C>T (p.Arg499=) rs371016744 0.00005
NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu) rs752509098 0.00005
NM_001139.3(ALOX12B):c.754+14C>G rs776236537 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.1532+15G>T rs370664817 0.00004
NM_001139.3(ALOX12B):c.163G>A (p.Val55Met) rs561140227 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.1592C>T (p.Pro531Leu) rs769562383 0.00002
NM_001139.3(ALOX12B):c.2082G>T (p.Leu694=) rs748377475 0.00002
NM_001139.3(ALOX12B):c.434+11G>T rs780190851 0.00002
NM_001139.3(ALOX12B):c.561C>T (p.Leu187=) rs201081065 0.00002
NM_001139.3(ALOX12B):c.1126T>C (p.Trp376Arg) rs752051700 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.1207C>T (p.His403Tyr) rs397514531 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.1496G>A (p.Arg499His) rs768784091 0.00001
NM_001139.3(ALOX12B):c.1787C>T (p.Pro596Leu) rs1360781582 0.00001
NM_001139.3(ALOX12B):c.1842C>T (p.Thr614=) rs761519997 0.00001
NM_001139.3(ALOX12B):c.1926+4C>T rs886053561 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.25G>A (p.Ala9Thr) rs1187233074 0.00001
NM_001139.3(ALOX12B):c.299C>T (p.Pro100Leu) rs1256507861 0.00001
NM_001139.3(ALOX12B):c.301G>A (p.Ala101Thr) rs200663524 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.567C>A (p.Asn189Lys) rs768113112 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.2065C>T (p.Arg689Trp) rs1311967606 0.00001
NM_177973.2(SULT2B1):c.821G>A (p.Arg274Gln) rs762765702 0.00001
NM_001139.3(ALOX12B):c.-110C>A rs886053574
NM_001139.3(ALOX12B):c.-201C>G rs886053577
NM_001139.3(ALOX12B):c.-2C>T rs1978306048
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.1101C>T (p.Pro367=) rs753070490
NM_001139.3(ALOX12B):c.1127G>A (p.Trp376Ter) rs1977104461
NM_001139.3(ALOX12B):c.1144A>G (p.Lys382Glu) rs1567981916
NM_001139.3(ALOX12B):c.1211T>G (p.Leu404Arg) rs1977100621
NM_001139.3(ALOX12B):c.1214T>G (p.Ile405Ser) rs369593974
NM_001139.3(ALOX12B):c.1219G>A (p.Glu407Lys) rs1977100213
NM_001139.3(ALOX12B):c.1235C>A (p.Ala412Asp)
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.1325G>T (p.Arg442Leu) rs1028050037
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.1349G>T (p.Gly450Val) rs772257172
NM_001139.3(ALOX12B):c.1350del (p.Leu451fs) rs746723399
NM_001139.3(ALOX12B):c.1350dup (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.1408G>T (p.Ala470Ser) rs1977079586
NM_001139.3(ALOX12B):c.1413G>A (p.Leu471=) rs886053564
NM_001139.3(ALOX12B):c.1460A>G (p.Glu487Gly) rs1335655652
NM_001139.3(ALOX12B):c.147+13G>A rs1978304239
NM_001139.3(ALOX12B):c.147+59_147+60del rs112884117
NM_001139.3(ALOX12B):c.1498G>C (p.Asp500His) rs1064796312
NM_001139.3(ALOX12B):c.149_353del (p.Val50fs)
NM_001139.3(ALOX12B):c.1533-1G>T rs1977066082
NM_001139.3(ALOX12B):c.1570G>A (p.Asp524Asn) rs886053563
NM_001139.3(ALOX12B):c.1577C>A (p.Ala526Asp) rs1977064087
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.1625_1626del (p.Lys542fs) rs745366046
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.1693C>T (p.Arg565Ter)
NM_001139.3(ALOX12B):c.1694G>C (p.Arg565Pro) rs1567980597
NM_001139.3(ALOX12B):c.1697A>G (p.Tyr566Cys) rs1567980596
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.1798C>T (p.Arg600Trp)
NM_001139.3(ALOX12B):c.1799G>A (p.Arg600Gln) rs1333287390
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.1861del (p.Asp621fs)
NM_001139.3(ALOX12B):c.1871C>T (p.Thr624Ile) rs1977016836
NM_001139.3(ALOX12B):c.1926+1G>A rs2151820983
NM_001139.3(ALOX12B):c.1926+2T>G rs1977016035
NM_001139.3(ALOX12B):c.1926+9C>T rs762902391
NM_001139.3(ALOX12B):c.1937dup (p.His647fs) rs1977011690
NM_001139.3(ALOX12B):c.1958T>G (p.Phe653Cys) rs1598176834
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.1966G>A (p.Glu656Lys) rs1357604679
NM_001139.3(ALOX12B):c.1977del (p.Arg660fs) rs1230917852
NM_001139.3(ALOX12B):c.1A>G (p.Met1Val)
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.228C>A (p.Phe76Leu) rs1978297242
NM_001139.3(ALOX12B):c.235A>T (p.Lys79Ter) rs1567985312
NM_001139.3(ALOX12B):c.286_287dup (p.Tyr97fs) rs1567985261
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.338T>C (p.Leu113Pro) rs1567985231
NM_001139.3(ALOX12B):c.345G>T (p.Glu115Asp) rs368442508
NM_001139.3(ALOX12B):c.353-1G>A rs1598181810
NM_001139.3(ALOX12B):c.39C>T (p.Asp13=) rs201251213
NM_001139.3(ALOX12B):c.403GAG[1] (p.Glu136del) rs749617913
NM_001139.3(ALOX12B):c.410T>A (p.Ile137Asn) rs397514530
NM_001139.3(ALOX12B):c.416_417del (p.Ala139fs) rs1977208852
NM_001139.3(ALOX12B):c.435-2A>G rs1598181642
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.527+2T>G rs1555643304
NM_001139.3(ALOX12B):c.530G>A (p.Trp177Ter) rs959284348
NM_001139.3(ALOX12B):c.58G>T (p.Asp20Tyr) rs1978305028
NM_001139.3(ALOX12B):c.628TTC[1] (p.Phe211del) rs1026084346
NM_001139.3(ALOX12B):c.632_633del (p.Phe211fs) rs1977196635
NM_001139.3(ALOX12B):c.660_666dup (p.Val223fs)
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.77T>C (p.Ile26Thr)
NM_001139.3(ALOX12B):c.786CTT[1] (p.Phe264del) rs1302782570
NM_001139.3(ALOX12B):c.787T>C (p.Phe263Leu) rs1567982884
NM_001139.3(ALOX12B):c.793G>A (p.Gly265Arg) rs1977171852
NM_001139.3(ALOX12B):c.799dup (p.Gln267fs)
NM_001139.3(ALOX12B):c.802T>C (p.Tyr268His)
NM_001139.3(ALOX12B):c.805C>T (p.Leu269Phe) rs532842455
NM_001139.3(ALOX12B):c.814G>T (p.Val272Phe) rs1308351316
NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn) rs1977170764
NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu) rs1567985822
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.927+5G>A rs933038014
NM_001139.3(ALOX12B):c.928-1G>C rs1977161156
NM_001139.3(ALOX12B):c.938_941dup (p.Ala316fs) rs1977160664
NM_001139.3(ALOX12B):c.944T>C (p.Leu315Pro) rs1977160529
NM_021628.3(ALOXE3):c.1208A>G (p.His403Arg) rs1296095311
NM_021628.3(ALOXE3):c.306T>A (p.Tyr102Ter) rs1568005543
NM_021628.3(ALOXE3):c.834C>A (p.Tyr278Ter) rs765682032
NM_177973.2(SULT2B1):c.364dup (p.Met122fs) rs1114167425
NM_177973.2(SULT2B1):c.71+2T>A rs1114167426

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