ClinVar Miner

List of variants reported as benign for Cholestanol storage disease by Illumina Laboratory Services, Illumina

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_000784.3(CYP27A1):c.-357dup rs397795841

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