List of variants reported for Autosomal recessive congenital ichthyosis 2 by Uitto Lab, Thomas Jefferson University

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_021628.3(ALOXE3):c.2065C>T (p.Arg689Trp)	rs1311967606	0.00001
NM_001139.3(ALOX12B):c.1325G>T (p.Arg442Leu)	rs1028050037
NM_001139.3(ALOX12B):c.1349G>T (p.Gly450Val)	rs772257172
NM_001139.3(ALOX12B):c.1350dup (p.Leu451fs)	rs746723399
NM_001139.3(ALOX12B):c.149_353del (p.Val50fs)
NM_001139.3(ALOX12B):c.1697A>G (p.Tyr566Cys)	rs1567980596
NM_001139.3(ALOX12B):c.286_287dup (p.Tyr97fs)	rs1567985261
NM_001139.3(ALOX12B):c.338T>C (p.Leu113Pro)	rs1567985231
NM_001139.3(ALOX12B):c.527+2T>G	rs1555643304
NM_001139.3(ALOX12B):c.787T>C (p.Phe263Leu)	rs1567982884
NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu)	rs1567985822
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

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