ClinVar Miner

List of variants reported as likely benign for Deficiency of steroid 11-beta-monooxygenase by Illumina Laboratory Services, Illumina

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000497.4(CYP11B1):c.1098T>G (p.Arg366=) rs61752769 0.02016
NM_000497.4(CYP11B1):c.*1871T>A rs61752818 0.01316
NM_000497.4(CYP11B1):c.1353T>C (p.Leu451=) rs5316 0.01232
NM_000497.4(CYP11B1):c.*1076C>T rs61752806 0.01209
NM_000497.4(CYP11B1):c.*193A>T rs61752798 0.01010
NM_000497.4(CYP11B1):c.*1512G>A rs61752814 0.00880
NM_000497.4(CYP11B1):c.*1258G>A rs61752808 0.00878
NM_000497.4(CYP11B1):c.*468C>T rs114832894 0.00774
NM_000497.4(CYP11B1):c.*634G>A rs1137481 0.00126
NM_000497.4(CYP11B1):c.743C>T (p.Thr248Ile) rs34620645 0.00095
NM_000497.4(CYP11B1):c.554C>G (p.Thr185Ser) rs566921201 0.00035
NM_000497.4(CYP11B1):c.*718T>G rs189479208 0.00032
NM_000497.4(CYP11B1):c.930A>G (p.Glu310=) rs148707144 0.00029
NM_000497.4(CYP11B1):c.*193A>C rs61752798
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=) rs61752786

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