ClinVar Miner

List of variants studied for Autosomal recessive congenital ichthyosis 5 by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_173483.4(CYP4F22):c.712G>A (p.Ala238Thr) rs572278771 0.00003
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu) rs118091316

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