ClinVar Miner

List of variants reported as likely benign for congenital non-bullous ichthyosiform erythroderma by Illumina Laboratory Services, Illumina

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_173076.3(ABCA12):c.*539dup rs139753893 0.07781
NM_001139.3(ALOX12B):c.379C>T (p.Pro127Ser) rs72842957 0.01485
NM_021628.3(ALOXE3):c.*87C>T rs75448808 0.00699
NM_021628.3(ALOXE3):c.-304G>T rs79377087 0.00560
NM_001374623.1(PNPLA1):c.1595+430T>C rs182222837 0.00534
NM_001099287.2(NIPAL4):c.*227T>A rs181287300 0.00529
NM_001099287.2(NIPAL4):c.*228C>G rs184168328 0.00529
NM_001099287.2(NIPAL4):c.*623T>C rs138577196 0.00441
NM_001139.3(ALOX12B):c.1179C>T (p.His393=) rs112835279 0.00365
NM_001099287.2(NIPAL4):c.*32C>T rs62388499 0.00347
NM_001374623.1(PNPLA1):c.1595+544A>G rs145087163 0.00340
NM_001099287.2(NIPAL4):c.110T>C (p.Val37Ala) rs183419459 0.00310
NM_001374623.1(PNPLA1):c.745G>A (p.Glu249Lys) rs45524833 0.00304
NM_001374623.1(PNPLA1):c.383C>T (p.Thr128Met) rs140585347 0.00290
NM_021628.3(ALOXE3):c.1786-10G>A rs148606343 0.00289
NM_021628.3(ALOXE3):c.*392G>A rs188419202 0.00210
NM_001139.3(ALOX12B):c.324C>T (p.Tyr108=) rs116399915 0.00187
NM_001374623.1(PNPLA1):c.537G>A (p.Gln179=) rs147389149 0.00184
NM_001099287.1(NIPAL4):c.78C>A (p.Gly26=) rs374248640 0.00064
NM_001139.3(ALOX12B):c.1565C>T (p.Pro522Leu) rs150371678 0.00035
NM_001374623.1(PNPLA1):c.627C>T (p.His209=) rs187453727 0.00026
NM_001099287.1(NIPAL4):c.-41C>T rs555788817 0.00022
NM_001099287.2(NIPAL4):c.544G>T (p.Val182Phe) rs540992129 0.00019
NM_001099287.2(NIPAL4):c.*405GTT[6] rs527401652
NM_001374623.1(PNPLA1):c.1595+221G>C rs150486914

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