ClinVar Miner

List of variants in gene CYP11B2, LOC106799834 studied for glucocorticoid-remediable aldosteronism

Included ClinVar conditions (2):
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Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_000498.3(CYP11B2):c.*239T>C rs9297975 0.99854
NM_000498.3(CYP11B2):c.873G>A (p.Ala291=) rs4536 0.94662
NM_000498.3(CYP11B2):c.*1178T>C rs3802228 0.63301
NM_000498.3(CYP11B2):c.*532G>T rs3802230 0.63100
NM_000498.3(CYP11B2):c.1120C>A (p.Arg374=) rs4538 0.54644
NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) rs4539 0.38300
NM_000498.3(CYP11B2):c.504C>T (p.Phe168=) rs4546 0.38199
NM_000498.3(CYP11B2):c.*735G>A rs28491316 0.34747
NM_000498.3(CYP11B2):c.*81G>A rs3097 0.20109
NM_000498.3(CYP11B2):c.891G>A (p.Ala297=) rs4543 0.12001
NM_000498.3(CYP11B2):c.1170G>A (p.Leu390=) rs5313 0.11194
NM_000498.3(CYP11B2):c.*744G>A rs28390200 0.10952
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala) rs61757294 0.08654
NM_000498.3(CYP11B2):c.*537C>T rs72499120 0.05319
NM_000498.3(CYP11B2):c.1303G>A (p.Gly435Ser) rs4545 0.04485
NM_000498.3(CYP11B2):c.1144T>C (p.Leu382=) rs61757295 0.01636
NM_000498.3(CYP11B2):c.606A>G (p.Leu202=) rs113284476 0.01323
NM_000498.3(CYP11B2):c.85G>A (p.Ala29Thr) rs6438 0.01088
NM_000498.3(CYP11B2):c.842A>G (p.Asn281Ser) rs4537 0.00890
NM_000498.3(CYP11B2):c.1080C>T (p.Thr360=) rs142179598 0.00766
NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr) rs4547 0.00598
NM_000498.3(CYP11B2):c.89G>A (p.Arg30Gln) rs6441 0.00391
NM_000498.3(CYP11B2):c.*1340T>A rs61763988 0.00124
NM_000498.3(CYP11B2):c.595+14G>A rs5307 0.00113
NM_000498.3(CYP11B2):c.1098G>T (p.Arg366=) rs61757297 0.00097
NM_000498.3(CYP11B2):c.*789G>A rs61763990 0.00095
NM_000498.3(CYP11B2):c.111G>A (p.Pro37=) rs5281 0.00053
NM_000498.3(CYP11B2):c.959C>T (p.Ala320Val) rs201830462 0.00029
NM_000498.3(CYP11B2):c.1353C>T (p.Leu451=) rs371126595 0.00026
NM_000498.3(CYP11B2):c.1101G>A (p.Ala367=) rs371450047 0.00025
NM_000498.3(CYP11B2):c.477G>A (p.Pro159=) rs375242946 0.00025
NM_000498.3(CYP11B2):c.9C>A (p.Leu3=) rs148205451 0.00021
NM_000498.3(CYP11B2):c.640C>G (p.His214Asp) rs551933154 0.00018
NM_000498.3(CYP11B2):c.256C>G (p.Pro86Ala) rs200283987 0.00013
NM_000498.3(CYP11B2):c.*579T>C rs559136479 0.00012
NM_000498.3(CYP11B2):c.*993A>G rs61763989 0.00012
NM_000498.3(CYP11B2):c.*504C>T rs201487778 0.00010
NM_000498.3(CYP11B2):c.1006G>A (p.Val336Met) rs373369254 0.00009
NM_000498.3(CYP11B2):c.424T>C (p.Leu142=) rs199988205 0.00008
NM_000498.3(CYP11B2):c.*205G>A rs1296538192 0.00006
NM_000498.3(CYP11B2):c.*879G>A rs375657023 0.00005
NM_000498.3(CYP11B2):c.752A>G (p.Lys251Arg) rs752962897 0.00005
NM_000498.3(CYP11B2):c.845G>A (p.Arg282His) rs769533897 0.00005
NM_000498.3(CYP11B2):c.*299G>A rs528171695 0.00004
NM_000498.3(CYP11B2):c.1086G>C (p.Leu362=) rs763197267 0.00004
NM_000498.3(CYP11B2):c.844C>T (p.Arg282Cys) rs774989997 0.00004
NM_000498.3(CYP11B2):c.979C>T (p.Leu327Phe) rs769090647 0.00004
NM_000498.3(CYP11B2):c.*204C>G rs773811282 0.00003
NM_000498.3(CYP11B2):c.280C>T (p.Pro94Ser) rs1374018568 0.00003
NM_000498.3(CYP11B2):c.674A>G (p.His225Arg) rs144140791 0.00003
NM_000498.3(CYP11B2):c.800-14T>C rs563246146 0.00003
NM_000498.3(CYP11B2):c.*1047C>T rs886062739 0.00002
NM_000498.3(CYP11B2):c.*746G>A rs570202161 0.00002
NM_000498.3(CYP11B2):c.1021C>T (p.Arg341Cys) rs562670189 0.00002
NM_000498.3(CYP11B2):c.342G>A (p.Glu114=) rs779683417 0.00002
NM_000498.3(CYP11B2):c.476C>T (p.Pro159Leu) rs563073392 0.00002
NM_000498.3(CYP11B2):c.529C>T (p.Leu177=) rs577489337 0.00002
NM_000498.3(CYP11B2):c.796T>G (p.Tyr266Asp) rs779486718 0.00002
NM_000498.3(CYP11B2):c.945C>T (p.Ser315=) rs759178574 0.00002
NM_000498.3(CYP11B2):c.*1277G>A rs745532151 0.00001
NM_000498.3(CYP11B2):c.*431A>C rs886062742 0.00001
NM_000498.3(CYP11B2):c.*613C>T rs61757284 0.00001
NM_000498.3(CYP11B2):c.*759A>T rs1035340238 0.00001
NM_000498.3(CYP11B2):c.1039G>A (p.Ala347Thr) rs746708275 0.00001
NM_000498.3(CYP11B2):c.1216T>G (p.Phe406Val) rs1817560561 0.00001
NM_000498.3(CYP11B2):c.1343G>A (p.Arg448His) rs1311444460 0.00001
NM_000498.3(CYP11B2):c.157C>T (p.Leu53=) rs747248100 0.00001
NM_000498.3(CYP11B2):c.352G>A (p.Ala118Thr) rs372556807 0.00001
NM_000498.3(CYP11B2):c.395+10G>A rs193166276 0.00001
NM_000498.3(CYP11B2):c.449C>T (p.Ser150Leu) rs768685630 0.00001
NM_000498.3(CYP11B2):c.867C>T (p.Ile289=) rs547347545 0.00001
NM_000498.3(CYP11B2):c.*1246_*1248del rs576148290
NM_000498.3(CYP11B2):c.*25A>C rs1817542488
NM_000498.3(CYP11B2):c.*292_*294dup rs3839864
NM_000498.3(CYP11B2):c.*298C>A rs1380755213
NM_000498.3(CYP11B2):c.*566C>T rs375938097
NM_000498.3(CYP11B2):c.*591T>G rs1817531890
NM_000498.3(CYP11B2):c.*743C>T rs886062741
NM_000498.3(CYP11B2):c.*876C>A rs1817525452
NM_000498.3(CYP11B2):c.*972C>G rs886062740
NM_000498.3(CYP11B2):c.1016T>A (p.Ile339Asn) rs4544
NM_000498.3(CYP11B2):c.1016T>C (p.Ile339Thr) rs4544
NM_000498.3(CYP11B2):c.1136G>T (p.Gly379Val) rs1409744694
NM_000498.3(CYP11B2):c.1201-9C>G rs750931398
NM_000498.3(CYP11B2):c.1398+10C>T rs1817553996
NM_000498.3(CYP11B2):c.1441A>T (p.Ile481Leu) rs1817545728
NM_000498.3(CYP11B2):c.1454A>G (p.Tyr485Cys) rs1817545422
NM_000498.3(CYP11B2):c.427C>T (p.Arg143Trp) rs760339298
NM_000498.3(CYP11B2):c.591A>G (p.Ile197Met) rs886062744
NM_000498.3(CYP11B2):c.595+15G>T rs886062743
NM_000498.3(CYP11B2):c.924T>C (p.Ser308=) rs764640232

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