ClinVar Miner

List of variants reported as pathogenic for congenital non-bullous ichthyosiform erythroderma by OMIM

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu) rs147149459 0.00105
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp) rs199422217 0.00077
NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys) rs199766569 0.00014
NM_021628.3(ALOXE3):c.700C>T (p.Arg234Ter) rs121434233 0.00013
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp) rs397514532 0.00003
NM_001374623.1(PNPLA1):c.418T>C (p.Ser140Pro) rs781053760 0.00003
NM_001139.3(ALOX12B):c.1180G>A (p.Glu394Lys) rs397514529 0.00001
NM_001139.3(ALOX12B):c.1207C>T (p.His403Tyr) rs397514531 0.00001
NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter) rs397514527 0.00001
NM_001139.3(ALOX12B):c.199A>T (p.Ile67Phe) rs397514533 0.00001
NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp) rs397514526 0.00001
NM_001374623.1(PNPLA1):c.100G>A (p.Ala34Thr) rs1182312612 0.00001
NM_021628.3(ALOXE3):c.434G>A (p.Arg145His) rs745480657 0.00001
A114N
NM_001099287.2(NIPAL4):c.247C>T (p.Arg83Ter) rs199422216
NM_001099287.2(NIPAL4):c.586+1G>A rs1561831582
NM_001139.3(ALOX12B):c.1277T>C (p.Leu426Pro) rs137853023
NM_001139.3(ALOX12B):c.1389del (p.Phe463fs) rs387906349
NM_001139.3(ALOX12B):c.1734C>A (p.His578Gln) rs137853024
NM_001139.3(ALOX12B):c.2036G>T (p.Arg679Leu) rs397514528
NM_001139.3(ALOX12B):c.353-1G>A rs1598181810
NM_001139.3(ALOX12B):c.410T>A (p.Ile137Asn) rs397514530
NM_001374623.1(PNPLA1):c.176C>T (p.Ala59Val) rs1561853847
NM_001374623.1(PNPLA1):c.387C>A (p.Asp129Glu) rs200806519
NM_001374623.1(PNPLA1):c.391G>T (p.Glu131Ter) rs1561864453
NM_001374623.1(PNPLA1):c.646T>C (p.Cys216Arg) rs1554138062
NM_001378789.1(CERS3):c.43T>C (p.Trp15Arg) rs762679102
NM_001378789.1(CERS3):c.609+1G>T rs587776996
NM_021628.3(ALOXE3):c.1186C>A (p.Arg396Ser) rs121434234
NM_021628.3(ALOXE3):c.1280T>C (p.Leu427Pro) rs1355284797
NM_021628.3(ALOXE3):c.1498G>T (p.Val500Phe) rs121434232
NM_021628.3(ALOXE3):c.842G>T (p.Gly281Val) rs786205120

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