ClinVar Miner

List of variants reported as uncertain significance for Congenital ichthyosiform erythroderma

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021628.3(ALOXE3):c.1764C>T (p.His588=) rs144069104 0.00029
NM_173076.3(ABCA12):c.*522_*524dup rs535404027 0.00011
NM_001374623.1(PNPLA1):c.1595+271C>T rs886061376 0.00010
NM_001374623.1(PNPLA1):c.235G>A (p.Val79Met) rs572438037 0.00006
NM_001139.3(ALOX12B):c.1276-13G>C rs370659573 0.00003
NM_001139.3(ALOX12B):c.1541C>T (p.Thr514Met) rs766621071 0.00002
NM_001099287.2(NIPAL4):c.*568_*572dup rs886060343 0.00001
NM_001099287.2(NIPAL4):c.1103C>T (p.Pro368Leu) rs371714489 0.00001
NM_001099287.2(NIPAL4):c.*1392GAA[1] rs886060346
NM_001099287.2(NIPAL4):c.*1494_*1499dup rs565912301
NM_001099287.2(NIPAL4):c.*227_*228delinsAG rs886060340
NM_001099287.2(NIPAL4):c.*385CCT[1] rs886060341
NM_001099287.2(NIPAL4):c.*405GTT[8] rs527401652
NM_001099287.2(NIPAL4):c.*874_*878del rs751375892
NM_001139.3(ALOX12B):c.*118dup rs558690816
NM_001139.3(ALOX12B):c.-157C>T rs886053575
NM_001139.3(ALOX12B):c.1004A>G (p.His335Arg) rs886053565
NM_001139.3(ALOX12B):c.46_48del (p.Ser16del) rs886053573
NM_001374623.1(PNPLA1):c.962G>A (p.Arg321Lys) rs886061375
NM_173076.3(ABCA12):c.5381+11_5381+14del rs568420119
NM_173076.3(ABCA12):c.7240-17_7240-15del rs574161259
NM_173483.4(CYP4F22):c.*421dup rs886054265
NM_173483.4(CYP4F22):c.939+15_939+40delinsTGGAGGGTGGAGCCCTGCCTGGGA rs886054264

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.