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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001139.3(ALOX12B):c.1158dup (p.Tyr387fs)	rs759653224	0.00007
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met)	rs199545653	0.00006
NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu)	rs752509098	0.00005
NM_001139.3(ALOX12B):c.1156C>T (p.Arg386Cys)	rs750066836	0.00004
NM_001139.3(ALOX12B):c.1265C>T (p.Pro422Leu)	rs774333332	0.00004
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp)	rs397514532	0.00003
NM_001139.3(ALOX12B):c.1405C>T (p.Arg469Trp)	rs559401066	0.00002
NM_001139.3(ALOX12B):c.1148C>T (p.Thr383Met)	rs760428119	0.00001
NM_001139.3(ALOX12B):c.1157G>A (p.Arg386His)	rs759484732	0.00001
NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter)	rs397514527	0.00001
NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp)	rs397514526	0.00001
NM_001139.3(ALOX12B):c.71T>C (p.Leu24Pro)	rs201575829	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.1799G>A (p.Arg600Gln)	rs1333287390
NM_001139.3(ALOX12B):c.1861del (p.Asp621fs)
NM_001139.3(ALOX12B):c.1926+1G>A	rs2151820983
NM_001139.3(ALOX12B):c.1A>G (p.Met1Val)
NM_001139.3(ALOX12B):c.338T>C (p.Leu113Pro)	rs1567985231
NM_001139.3(ALOX12B):c.403GAG[1] (p.Glu136del)	rs749617913
NM_001139.3(ALOX12B):c.527+2T>G	rs1555643304
NM_001139.3(ALOX12B):c.660_666dup (p.Val223fs)
NM_001139.3(ALOX12B):c.77T>C (p.Ile26Thr)
NM_001139.3(ALOX12B):c.799dup (p.Gln267fs)
NM_001139.3(ALOX12B):c.805C>T (p.Leu269Phe)	rs532842455
NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn)	rs1977170764
NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu)	rs1567985822
NM_001139.3(ALOX12B):c.944T>C (p.Leu315Pro)	rs1977160529
NM_021628.3(ALOXE3):c.1208A>G (p.His403Arg)	rs1296095311

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.