ClinVar Miner

List of variants in gene CYP27A1 reported as pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 8
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HGVS dbSNP
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) rs72551318
NM_000784.4(CYP27A1):c.844+1G>A rs397515354

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