ClinVar Miner

List of variants in gene CYP11B1 reported as pathogenic by OMIM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser) rs104894069 0.00001
CYP11B1, CYP11B1/CYP11B2 ANTI-LEPORE-LIKE CHIMERA
CYP11B1, CYP11B1/CYP11B2 CHIMERA
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.4(CYP11B1):c.347G>A (p.Trp116Ter) rs104894066

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