ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive congenital ichthyosis 2

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Total variants: 10
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HGVS dbSNP
NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter) rs397514527
NM_001139.3(ALOX12B):c.1325G>T (p.Arg442Leu) rs1028050037
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met) rs199545653
NM_001139.3(ALOX12B):c.1697A>G (p.Tyr566Cys) rs1567980596
NM_001139.3(ALOX12B):c.338T>C (p.Leu113Pro) rs1567985231
NM_001139.3(ALOX12B):c.353-2A>G rs775524204
NM_001139.3(ALOX12B):c.527+2T>G rs1555643304
NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu) rs1567985822
NM_001165960.1(ALOXE3):c.1604A>G (p.His535Arg) rs1296095311
NM_001165960.1(ALOXE3):c.2461C>T (p.Arg821Trp) rs1311967606

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