ClinVar Miner

List of variants in gene CYP11B1 reported as uncertain significance for primary adrenal insufficiency

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=) rs9657022 0.00726
NM_000497.4(CYP11B1):c.395+9C>T rs61751140 0.00235
NM_000497.4(CYP11B1):c.*614C>T rs772616356 0.00040
NM_000497.4(CYP11B1):c.*613A>G rs1137480 0.00024
NM_000497.4(CYP11B1):c.375C>G (p.His125Gln) rs201137503 0.00016
NM_000497.4(CYP11B1):c.*345C>A rs368195405 0.00015
NM_000497.4(CYP11B1):c.*737C>T rs748684062 0.00015
NM_000497.4(CYP11B1):c.*1264A>C rs547356106 0.00014
NM_000497.4(CYP11B1):c.104T>C (p.Val35Ala) rs201951316 0.00011
NM_000497.4(CYP11B1):c.*1209C>T rs757505651 0.00010
NM_000497.4(CYP11B1):c.*946G>A rs1312537684 0.00009
NM_000497.4(CYP11B1):c.*857T>C rs370725779 0.00006
NM_000497.4(CYP11B1):c.*670A>C rs879537131 0.00005
NM_000497.4(CYP11B1):c.*1435T>C rs551125657 0.00004
NM_000497.4(CYP11B1):c.218A>G (p.Gln73Arg) rs371662064 0.00004
NM_000497.4(CYP11B1):c.*1358T>C rs886062734 0.00003
NM_000497.4(CYP11B1):c.244G>A (p.Asp82Asn) rs762347776 0.00003
NM_000497.4(CYP11B1):c.395+6C>T rs553707049 0.00003
NM_000497.4(CYP11B1):c.*1622C>T rs543935807 0.00002
NM_000497.4(CYP11B1):c.*1313C>T rs973876982 0.00001
NM_000497.4(CYP11B1):c.*1476G>C rs1325854085 0.00001
NM_000497.4(CYP11B1):c.*245C>G rs538608688 0.00001
NM_000497.4(CYP11B1):c.*495C>T rs886062736 0.00001
NM_000497.4(CYP11B1):c.*607C>T rs1816856226 0.00001
NM_000497.4(CYP11B1):c.*901G>A rs748103274 0.00001
NM_000497.4(CYP11B1):c.107T>G (p.Leu36Arg) rs755448048 0.00001
NM_000497.4(CYP11B1):c.187G>C (p.Asp63His) rs5282 0.00001
NM_000497.4(CYP11B1):c.206A>G (p.His69Arg) rs747287245 0.00001
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile) rs1489638195 0.00001
NM_000497.4(CYP11B1):c.263T>C (p.Met88Thr) rs1817062027 0.00001
NM_000497.4(CYP11B1):c.346T>G (p.Trp116Gly) rs772733691 0.00001
NM_000497.4(CYP11B1):c.374A>G (p.His125Arg) rs757389720 0.00001
NM_000497.4(CYP11B1):c.*1012A>C rs1816847260
NM_000497.4(CYP11B1):c.*1164G>A rs886062735
NM_000497.4(CYP11B1):c.*1253G>T rs1816842907
NM_000497.4(CYP11B1):c.*1296A>G rs1816841780
NM_000497.4(CYP11B1):c.*1511C>T rs1033272486
NM_000497.4(CYP11B1):c.*1550C>T rs1425377435
NM_000497.4(CYP11B1):c.*1590G>C rs886062733
NM_000497.4(CYP11B1):c.*1623G>C rs997960869
NM_000497.4(CYP11B1):c.*1770A>T rs369448045
NM_000497.4(CYP11B1):c.*1929A>C rs201626683
NM_000497.4(CYP11B1):c.*1944G>A rs1816825330
NM_000497.4(CYP11B1):c.*1979G>A rs1039347990
NM_000497.4(CYP11B1):c.*244C>T rs1816862781
NM_000497.4(CYP11B1):c.*317T>C rs567623158
NM_000497.4(CYP11B1):c.*390A>G rs558749828
NM_000497.4(CYP11B1):c.*400C>T rs61752801
NM_000497.4(CYP11B1):c.*485C>G rs886062737
NM_000497.4(CYP11B1):c.*516A>T rs5301
NM_000497.4(CYP11B1):c.*596C>A rs1816856315
NM_000497.4(CYP11B1):c.*848C>T rs149520110
NM_000497.4(CYP11B1):c.1019T>G (p.Leu340Arg)
NM_000497.4(CYP11B1):c.106C>G (p.Leu36Val)
NM_000497.4(CYP11B1):c.109C>T (p.Pro37Ser)
NM_000497.4(CYP11B1):c.1124T>C (p.Leu375Pro)
NM_000497.4(CYP11B1):c.112T>A (p.Phe38Ile)
NM_000497.4(CYP11B1):c.127C>T (p.Arg43Trp)
NM_000497.4(CYP11B1):c.172G>A (p.Glu58Lys)
NM_000497.4(CYP11B1):c.181T>C (p.Tyr61His)
NM_000497.4(CYP11B1):c.191T>C (p.Leu64Pro)
NM_000497.4(CYP11B1):c.215T>A (p.Phe72Tyr)
NM_000497.4(CYP11B1):c.256G>C (p.Ala86Pro)
NM_000497.4(CYP11B1):c.259G>C (p.Gly87Arg)
NM_000497.4(CYP11B1):c.260G>A (p.Gly87Asp)
NM_000497.4(CYP11B1):c.274A>C (p.Met92Leu)
NM_000497.4(CYP11B1):c.315C>A (p.Ser105Arg)
NM_000497.4(CYP11B1):c.326A>T (p.His109Leu)
NM_000497.4(CYP11B1):c.334A>C (p.Ser112Arg) rs770400476
NM_000497.4(CYP11B1):c.367C>T (p.Arg123Cys)
NM_000497.4(CYP11B1):c.371G>A (p.Gly124Glu)
NM_000497.4(CYP11B1):c.384C>T (p.Gly128=)
NM_000497.4(CYP11B1):c.385G>A (p.Val129Met) rs377423817
NM_000497.4(CYP11B1):c.385G>C (p.Val129Leu)
NM_000497.4(CYP11B1):c.395T>G (p.Leu132Arg)
NM_000497.4(CYP11B1):c.399T>A (p.Asn133Lys)
NM_000497.4(CYP11B1):c.930A>T (p.Glu310Asp)

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