ClinVar Miner

List of variants in gene ALOX12B reported as likely pathogenic for self-healing collodion baby

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001139.3(ALOX12B):c.1158dup (p.Tyr387fs) rs759653224 0.00007
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.1579G>A (p.Val527Met) rs199545653 0.00004
NM_001139.3(ALOX12B):c.1405C>T (p.Arg469Trp) rs559401066 0.00003
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp) rs397514532 0.00003
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.1294C>T (p.Arg432Ter) rs397514527 0.00001
NM_001139.3(ALOX12B):c.1697A>G (p.Tyr566Cys) rs1567980596 0.00001
NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp) rs397514526 0.00001
NM_001139.3(ALOX12B):c.71T>C (p.Leu24Pro) rs201575829 0.00001
NM_001139.3(ALOX12B):c.1161T>A (p.Tyr387Ter)
NM_001139.3(ALOX12B):c.1325G>T (p.Arg442Leu) rs1028050037
NM_001139.3(ALOX12B):c.1799G>A (p.Arg600Gln) rs1333287390
NM_001139.3(ALOX12B):c.1861del (p.Asp621fs)
NM_001139.3(ALOX12B):c.1926+1G>A rs2151820983
NM_001139.3(ALOX12B):c.1A>G (p.Met1Val)
NM_001139.3(ALOX12B):c.338T>C (p.Leu113Pro) rs1567985231
NM_001139.3(ALOX12B):c.403GAG[1] (p.Glu136del) rs749617913
NM_001139.3(ALOX12B):c.527+2T>G rs1555643304
NM_001139.3(ALOX12B):c.660_666dup (p.Val223fs)
NM_001139.3(ALOX12B):c.77T>C (p.Ile26Thr)
NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu) rs1567985822
NM_001139.3(ALOX12B):c.944T>C (p.Leu315Pro) rs1977160529

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