ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive congenital ichthyosis 2

Included ClinVar conditions (1):
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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_001139.3(ALOX12B):c.135T>C (p.Phe45=) rs117483056 0.00218
NM_001139.3(ALOX12B):c.1394G>T (p.Gly465Val) rs145344421 0.00170
NM_001139.3(ALOX12B):c.-48C>A rs370936922 0.00118
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.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.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.715A>G (p.Ile239Val) rs371937340 0.00007
NM_001139.3(ALOX12B):c.-212C>T rs886053578 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.754+14C>G rs776236537 0.00005
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.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.1324C>T (p.Arg442Trp) rs764862348 0.00001
NM_001139.3(ALOX12B):c.1325G>A (p.Arg442Gln) rs1028050037 0.00001
NM_001139.3(ALOX12B):c.1496G>A (p.Arg499His) rs768784091 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.25G>A (p.Ala9Thr) rs1187233074 0.00001
NM_001139.3(ALOX12B):c.301G>A (p.Ala101Thr) rs200663524 0.00001
NM_001139.3(ALOX12B):c.567C>A (p.Asn189Lys) rs768113112 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.1101C>T (p.Pro367=) rs753070490
NM_001139.3(ALOX12B):c.1144A>G (p.Lys382Glu) rs1567981916
NM_001139.3(ALOX12B):c.1214T>G (p.Ile405Ser) rs369593974
NM_001139.3(ALOX12B):c.1235C>A (p.Ala412Asp)
NM_001139.3(ALOX12B):c.1349G>T (p.Gly450Val) rs772257172
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.1570G>A (p.Asp524Asn) rs886053563
NM_001139.3(ALOX12B):c.1577C>A (p.Ala526Asp) rs1977064087
NM_001139.3(ALOX12B):c.1609G>A (p.Val537Met) rs962267153
NM_001139.3(ALOX12B):c.1798C>T (p.Arg600Trp)
NM_001139.3(ALOX12B):c.1926+9C>T rs762902391
NM_001139.3(ALOX12B):c.1958T>G (p.Phe653Cys) rs1598176834
NM_001139.3(ALOX12B):c.1966G>A (p.Glu656Lys) rs1357604679
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.345G>T (p.Glu115Asp) rs368442508
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.628TTC[1] (p.Phe211del) rs1026084346
NM_001139.3(ALOX12B):c.787T>C (p.Phe263Leu) rs1567982884
NM_001139.3(ALOX12B):c.802T>C (p.Tyr268His)
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.927+5G>A rs933038014
NM_001139.3(ALOX12B):c.944T>C (p.Leu315Pro) rs1977160529

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