ClinVar Miner

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

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Total variants: 27
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HGVS dbSNP
NM_000497.3(CYP11B1):c.1128C>A (p.Tyr376Ter) rs760880418
NM_000497.3(CYP11B1):c.1151G>A (p.Arg384Gln) rs764598023
NM_000497.3(CYP11B1):c.1159dup (p.Ser387Lysfs) rs1379392398
NM_000497.3(CYP11B1):c.1205delT (p.Leu402Trpfs) rs1554652650
NM_000497.3(CYP11B1):c.1269T>G (p.Tyr423Ter) rs267606755
NM_000497.3(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938
NM_000497.3(CYP11B1):c.1343G>A (p.Arg448His) rs28934586
NM_000497.3(CYP11B1):c.1361G>A (p.Arg454His) rs367634557
NM_000497.3(CYP11B1):c.1398+2T>C rs577022490
NM_000497.3(CYP11B1):c.147delG (p.Trp49Cysfs) rs748867146
NM_000497.3(CYP11B1):c.168G>A (p.Trp56Ter) rs1383321200
NM_000497.3(CYP11B1):c.217C>T (p.Gln73Ter) rs1554653675
NM_000497.3(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.3(CYP11B1):c.304C>T (p.Gln102Ter) rs1554653551
NM_000497.3(CYP11B1):c.395+1G>C rs1554653514
NM_000497.3(CYP11B1):c.427C>T (p.Arg143Trp) rs140336749
NM_000497.3(CYP11B1):c.45G>A (p.Trp15Ter) rs1554653714
NM_000497.3(CYP11B1):c.55C>T (p.Gln19Ter) rs763195324
NM_000497.3(CYP11B1):c.595+1G>A rs1264073726
NM_000497.3(CYP11B1):c.799+1G>C rs1554652990
NM_000497.3(CYP11B1):c.841_842ins11 (p.?) rs775128501
NM_000497.3(CYP11B1):c.896T>C (p.Leu299Pro) rs387907573
NM_000497.3(CYP11B1):c.917C>T (p.Ala306Val) rs387907572
NM_000497.3(CYP11B1):c.953C>G (p.Thr318Arg) rs104894061
NM_000497.3(CYP11B1):c.954G>A (p.Thr318=) rs753774484
NM_000497.3(CYP11B1):c.955-1G>A rs1456715954
NM_000497.3(CYP11B1):c.992C>T (p.Ala331Val) rs1326688256

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