ClinVar Miner

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

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Total variants: 84
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HGVS dbSNP gnomAD frequency
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.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.1361G>A (p.Arg454His) rs367634557 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.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.955-1G>A rs1456715954 0.00001
NM_000497.4(CYP11B1):c.1019T>G (p.Leu340Arg) rs764534524
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.1151G>A (p.Arg384Gln) rs764598023
NM_000497.4(CYP11B1):c.1159dup (p.Ser387fs) rs1379392398
NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs) rs758714890
NM_000497.4(CYP11B1):c.1200+1G>T rs778735553
NM_000497.4(CYP11B1):c.1200+1del rs2130267209
NM_000497.4(CYP11B1):c.1201-1G>A rs1437397442
NM_000497.4(CYP11B1):c.1201-9C>A rs759939173
NM_000497.4(CYP11B1):c.1205del (p.Leu402fs) rs1554652650
NM_000497.4(CYP11B1):c.1210_1212del (p.Arg404del) rs2130266841
NM_000497.4(CYP11B1):c.1379TGC[6] (p.Leu464_His465insLeu) rs761488596
NM_000497.4(CYP11B1):c.1398+2T>C rs577022490
NM_000497.4(CYP11B1):c.1399-1G>C rs2488674652
NM_000497.4(CYP11B1):c.1466T>C (p.Leu489Ser) rs750428278
NM_000497.4(CYP11B1):c.147del (p.Trp49fs) rs748867146
NM_000497.4(CYP11B1):c.168G>A (p.Trp56Ter) rs1383321200
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.304C>T (p.Gln102Ter) rs1554653551
NM_000497.4(CYP11B1):c.360del (p.Arg120fs) rs2488681079
NM_000497.4(CYP11B1):c.395+1G>C rs1554653514
NM_000497.4(CYP11B1):c.410G>A (p.Trp137Ter) rs2130277148
NM_000497.4(CYP11B1):c.422G>T (p.Arg141Leu) rs267601810
NM_000497.4(CYP11B1):c.425T>A (p.Leu142Ter) rs1479660166
NM_000497.4(CYP11B1):c.449C>A (p.Ser150Ter) rs142484434
NM_000497.4(CYP11B1):c.45G>A (p.Trp15Ter) rs1554653714
NM_000497.4(CYP11B1):c.55C>T (p.Gln19Ter) rs763195324
NM_000497.4(CYP11B1):c.608_650del (p.Ala203fs)
NM_000497.4(CYP11B1):c.61del (p.Ala21fs)
NM_000497.4(CYP11B1):c.642_643del (p.His214fs) rs1369163428
NM_000497.4(CYP11B1):c.663_664del (p.Asn222fs) rs2488678202
NM_000497.4(CYP11B1):c.693_694delinsT (p.Lys232fs) rs2488678148
NM_000497.4(CYP11B1):c.694A>T (p.Lys232Ter) rs2488678145
NM_000497.4(CYP11B1):c.712dup (p.Met238fs) rs2488678124
NM_000497.4(CYP11B1):c.751_752insC (p.Lys251fs) rs2488678074
NM_000497.4(CYP11B1):c.793_794del (p.Gln265fs) rs2488678032
NM_000497.4(CYP11B1):c.798C>G (p.Tyr266Ter) rs370404312
NM_000497.4(CYP11B1):c.799+1G>C rs1554652990
NM_000497.4(CYP11B1):c.800G>A (p.Gly267Asp) rs2488677617
NM_000497.4(CYP11B1):c.811_812insAGAGGGAT (p.Ile271fs) rs2488677593
NM_000497.4(CYP11B1):c.814C>T (p.Gln272Ter) rs1360208732
NM_000497.4(CYP11B1):c.825T>G (p.Tyr275Ter) rs5290
NM_000497.4(CYP11B1):c.841_842insACAGTACACCA (p.Ser281fs) rs775128501
NM_000497.4(CYP11B1):c.850C>T (p.Gln284Ter) rs1816949224
NM_000497.4(CYP11B1):c.853_854insTACT (p.Gln285fs) rs2130273520
NM_000497.4(CYP11B1):c.907del (p.Ala303fs) rs769310764
NM_000497.4(CYP11B1):c.937del (p.Ala313fs) rs2488677362
NM_000497.4(CYP11B1):c.947dup (p.Asp317fs) rs2488677344
NM_000497.4(CYP11B1):c.953C>G (p.Thr318Arg) 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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