List of variants reported as likely pathogenic for congenital non-bullous ichthyosiform erythroderma by Uitto Lab, Thomas Jefferson University

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001374623.1(PNPLA1):c.614C>T (p.Pro205Leu)	rs766215523	0.00001
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.1697A>G (p.Tyr566Cys)	rs1567980596
NM_001139.3(ALOX12B):c.338T>C (p.Leu113Pro)	rs1567985231
NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu)	rs1567985822
NM_001374623.1(PNPLA1):c.149C>A (p.Ala50Glu)	rs533584507
NM_001374623.1(PNPLA1):c.56C>G (p.Ser19Trp)	rs1373230987
NM_001374623.1(PNPLA1):c.737G>C (p.Arg246Pro)	rs746575171
NM_021628.3(ALOXE3):c.1208A>G (p.His403Arg)	rs1296095311

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