ClinVar Miner

List of variants reported as uncertain significance for congenital non-bullous ichthyosiform erythroderma by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001139.3(ALOX12B):c.1958T>G (p.Phe653Cys) rs1598176834
NM_001378789.1(CERS3):c.530C>T (p.Ser177Phe) rs1178676096

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