ClinVar Miner

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

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
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 0.00003
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.1294C>T (p.Arg432Ter) rs397514527 0.00001
NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp) rs397514526 0.00001
NM_001374623.1(PNPLA1):c.335C>A (p.Ser112Tyr) rs369445146 0.00001
NM_001374623.1(PNPLA1):c.350C>T (p.Thr117Met) rs371307766 0.00001
NM_001374623.1(PNPLA1):c.614C>T (p.Pro205Leu) rs766215523 0.00001
NM_021628.3(ALOXE3):c.2065C>T (p.Arg689Trp) rs1311967606 0.00001
NM_000359.3(TGM1):c.953C>G (p.Pro318Arg) rs2139024935
NM_001099287.2(NIPAL4):c.421del (p.Leu140_Ile141insTer)
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.338T>C (p.Leu113Pro) rs1567985231
NM_001139.3(ALOX12B):c.527+2T>G rs1555643304
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_001374623.1(PNPLA1):c.100G>C (p.Ala34Pro) rs1182312612
NM_001374623.1(PNPLA1):c.149C>A (p.Ala50Glu) rs533584507
NM_001374623.1(PNPLA1):c.158C>G (p.Ser53Trp) rs1207879599
NM_001374623.1(PNPLA1):c.178G>A (p.Ala60Thr)
NM_001374623.1(PNPLA1):c.266C>T (p.Pro89Leu) rs922934422
NM_001374623.1(PNPLA1):c.56C>G (p.Ser19Trp) rs1373230987
NM_001374623.1(PNPLA1):c.737G>C (p.Arg246Pro) rs746575171
NM_001374623.1(PNPLA1):c.820del (p.Arg274fs) rs1170446813
NM_001378183.1(PIEZO2):c.64+1G>A rs2040867555
NM_001378789.1(CERS3):c.46del (p.Leu16fs) rs1596772428
NM_021628.3(ALOXE3):c.1208A>G (p.His403Arg) rs1296095311
NM_021628.3(ALOXE3):c.1525C>T (p.Arg509Ter) rs754701941
NM_021628.3(ALOXE3):c.1685-2A>G
NM_021628.3(ALOXE3):c.352+1G>T

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