ClinVar Miner

List of variants studied for Deficiency of steroid 11-beta-monooxygenase by Baylor Genetics

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Total variants: 61
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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.449C>T (p.Ser150Leu) rs142484434 0.00014
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu) rs193922538 0.00008
NM_000497.4(CYP11B1):c.799+5G>C rs193922542 0.00006
NM_000497.4(CYP11B1):c.946G>A (p.Val316Met) rs375833424 0.00006
NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp) rs61752786 0.00004
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys) rs764251434 0.00004
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met) rs104894068 0.00004
NM_000497.4(CYP11B1):c.421C>T (p.Arg141Ter) rs775479837 0.00003
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His) rs28934586 0.00002
NM_000497.4(CYP11B1):c.995G>A (p.Arg332Gln) rs149881706 0.00002
NM_000497.4(CYP11B1):c.1128C>A (p.Tyr376Ter) rs760880418 0.00001
NM_000497.4(CYP11B1):c.1145T>G (p.Leu382Arg) rs1412048304 0.00001
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser) rs104894069 0.00001
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter) rs267606755 0.00001
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938 0.00001
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile) rs1489638195 0.00001
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln) rs267601810 0.00001
NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp) rs140336749 0.00001
NM_000497.4(CYP11B1):c.595+1G>A rs1264073726 0.00001
NM_000497.4(CYP11B1):c.596-2A>T rs775946442 0.00001
NM_000497.4(CYP11B1):c.715_731del (p.Phe239fs) rs1816966972 0.00001
NM_000497.4(CYP11B1):c.740G>A (p.Trp247Ter) rs866430018 0.00001
NM_000497.4(CYP11B1):c.799G>C (p.Gly267Arg) rs1421641874 0.00001
NM_000497.4(CYP11B1):c.896T>C (p.Leu299Pro) rs387907573 0.00001
NM_000497.4(CYP11B1):c.917C>T (p.Ala306Val) rs387907572 0.00001
NM_000497.4(CYP11B1):c.1080del (p.Glu361fs) rs2488676544
NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln) rs104894062
NM_000497.4(CYP11B1):c.1122-2A>G rs2488675946
NM_000497.4(CYP11B1):c.1136G>T (p.Gly379Val) rs1816901292
NM_000497.4(CYP11B1):c.1136del (p.Gly379fs) rs2488675856
NM_000497.4(CYP11B1):c.1150_1153del (p.Arg384fs) rs777844820
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln) rs764598023
NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs) rs758714890
NM_000497.4(CYP11B1):c.1200+1G>T rs778735553
NM_000497.4(CYP11B1):c.1201-1G>A rs1437397442
NM_000497.4(CYP11B1):c.1201-9C>A rs759939173
NM_000497.4(CYP11B1):c.1342C>T (p.Arg448Cys) rs1221010438
NM_000497.4(CYP11B1):c.1343G>C (p.Arg448Pro) rs28934586
NM_000497.4(CYP11B1):c.1358G>A (p.Arg453Gln) rs1447069098
NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs) rs2130266157
NM_000497.4(CYP11B1):c.1379TGC[6] (p.Leu464_His465insLeu) rs761488596
NM_000497.4(CYP11B1):c.1398+5G>C rs1563867837
NM_000497.4(CYP11B1):c.1399-1G>C rs2488674652
NM_000497.4(CYP11B1):c.217C>T (p.Gln73Ter) rs1554653675
NM_000497.4(CYP11B1):c.228del (p.Ile78fs) rs2488681916
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.4(CYP11B1):c.317_344del (p.Leu106fs) rs764418169
NM_000497.4(CYP11B1):c.360del (p.Arg120fs) rs2488681079
NM_000497.4(CYP11B1):c.395+1G>C rs1554653514
NM_000497.4(CYP11B1):c.396-1G>A rs141305721
NM_000497.4(CYP11B1):c.449C>A (p.Ser150Ter) rs142484434
NM_000497.4(CYP11B1):c.55C>T (p.Gln19Ter) rs763195324
NM_000497.4(CYP11B1):c.793C>T (p.Gln265Ter) rs2130274854
NM_000497.4(CYP11B1):c.853_854insTACT (p.Gln285fs) rs2130273520
NM_000497.4(CYP11B1):c.907del (p.Ala303fs) rs769310764
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met) rs104894061
NM_000497.4(CYP11B1):c.954+1del rs2488677327
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=) rs753774484
NM_000497.4(CYP11B1):c.955-2A>G rs2488676743
NM_000497.4(CYP11B1):c.992C>T (p.Ala331Val) rs1326688256

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