ClinVar Miner

List of variants reported as pathogenic for Deficiency of steroid 11-beta-monooxygenase by Counsyl

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter) rs146124466 0.00032
NM_000497.4(CYP11B1):c.1181del (p.Asn394fs) rs1256580853
NM_000497.4(CYP11B1):c.317_344del (p.Leu106fs) rs764418169
NM_000497.4(CYP11B1):c.372del (p.His125fs) rs1554653520
NM_000497.4(CYP11B1):c.740G>A (p.Trp247Ter) rs866430018
NM_000497.4(CYP11B1):c.779G>A (p.Trp260Ter) rs1554652999
NM_000497.4(CYP11B1):c.780G>A (p.Trp260Ter) rs1554652998

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