ClinVar Miner

List of variants in gene CYP27A1 reported as benign for Cholestanol storage disease

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Total variants: 21
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HGVS dbSNP
NM_000784.3(CYP27A1):c.-357dupC rs397795841
NM_000784.4(CYP27A1):c.1104G>A (p.Val368=) rs151064520
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116
NM_000784.4(CYP27A1):c.1374C>A (p.Pro458=) rs55998945
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met) rs200604732
NM_000784.4(CYP27A1):c.315C>T (p.His105=) rs753981913
NM_000784.4(CYP27A1):c.366= (p.Gly122=) rs1051087
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381
NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys) rs114768494
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609
NM_000784.4(CYP27A1):c.852G>A (p.Lys284=) rs587778814
NM_000784.4(CYP27A1):c.882G>A (p.Glu294=) rs59428328
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335

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