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

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000359.3(TGM1):c.1298+1G>A	rs1566378425
NM_000359.3(TGM1):c.1307A>G (p.His436Arg)	rs1381998109
NM_000359.3(TGM1):c.131G>A (p.Trp44Ter)	rs1566381457
NM_000359.3(TGM1):c.1521del (p.Gln508fs)	rs1566377068
NM_000359.3(TGM1):c.1928-1G>A	rs112419023
NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter)	rs1057517836
NM_001099287.2(NIPAL4):c.520_526del (p.Ile174fs)	rs1561831443
NM_001099287.2(NIPAL4):c.897C>A (p.Tyr299Ter)	rs373501601
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_001374623.1(PNPLA1):c.727TAC[2] (p.Tyr245del)	rs1582086407
NM_001378789.1(CERS3):c.731G>A (p.Trp244Ter)	rs1567644030
NM_021628.3(ALOXE3):c.306T>A (p.Tyr102Ter)	rs1568005543
NM_021628.3(ALOXE3):c.834C>A (p.Tyr278Ter)	rs765682032

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