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

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001139.3(ALOX12B):c.1350dup (p.Leu451fs)	rs746723399
NM_001139.3(ALOX12B):c.149_353del (p.Val50fs)
NM_001139.3(ALOX12B):c.286_287dup (p.Tyr97fs)	rs1567985261
NM_001139.3(ALOX12B):c.527+2T>G	rs1555643304
NM_021628.3(ALOXE3):c.306T>A (p.Tyr102Ter)	rs1568005543
NM_021628.3(ALOXE3):c.834C>A (p.Tyr278Ter)	rs765682032

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