ClinVar Miner

List of variants studied for glucocorticoid-remediable aldosteronism by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 211
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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_000497.4(CYP11B1):c.*471A>C rs12543598 0.67053
NM_000497.4(CYP11B1):c.*694T>C rs5303 0.65382
NM_000498.3(CYP11B2):c.*1178T>C rs3802228 0.63301
NM_000498.3(CYP11B2):c.*532G>T rs3802230 0.63100
NM_000497.4(CYP11B1):c.*1852T>G rs4736312 0.61613
NM_000497.4(CYP11B1):c.*1566G>T rs1134096 0.60736
NM_000497.4(CYP11B1):c.*318A>G rs5299 0.60710
NM_000497.4(CYP11B1):c.*1499C>T rs1134095 0.60702
NM_000497.4(CYP11B1):c.*738G>A rs5304 0.60698
NM_000497.4(CYP11B1):c.*1042A>G rs7003319 0.60695
NM_000498.3(CYP11B2):c.1120C>A (p.Arg374=) rs4538 0.54644
NM_000497.4(CYP11B1):c.225A>G (p.Leu75=) rs6410 0.52490
NM_000497.4(CYP11B1):c.*516A>G rs5301 0.49013
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_000497.4(CYP11B1):c.246C>T (p.Asp82=) rs5283 0.33818
NM_000498.3(CYP11B2):c.*81G>A rs3097 0.20109
NM_000497.4(CYP11B1):c.*132T>C rs5297 0.13529
NM_000497.4(CYP11B1):c.*1288A>G rs61752809 0.13519
NM_000497.4(CYP11B1):c.1399-14G>C rs5295 0.12635
NM_000498.3(CYP11B2):c.891G>A (p.Ala297=) rs4543 0.12001
NM_000497.4(CYP11B1):c.*1417G>A rs61752812 0.11851
NM_000498.3(CYP11B2):c.1170G>A (p.Leu390=) rs5313 0.11194
NM_000498.3(CYP11B2):c.*744G>A rs28390200 0.10952
NM_000497.4(CYP11B1):c.873G>A (p.Ala291=) rs34570566 0.08763
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala) rs61757294 0.08654
NM_000497.4(CYP11B1):c.*923G>C rs61752805 0.06064
NM_000497.4(CYP11B1):c.800-14C>T rs4535 0.05537
NM_000498.3(CYP11B2):c.*537C>T rs72499120 0.05319
NM_000497.4(CYP11B1):c.1157C>T (p.Ala386Val) rs4541 0.04552
NM_000498.3(CYP11B2):c.1303G>A (p.Gly435Ser) rs4545 0.04485
NM_000497.4(CYP11B1):c.128G>A (p.Arg43Gln) rs4534 0.03864
NM_000497.4(CYP11B1):c.1086G>C (p.Leu362=) rs6403 0.03563
NM_000497.4(CYP11B1):c.1098T>G (p.Arg366=) rs61752769 0.02016
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_000497.4(CYP11B1):c.*1871T>A rs61752818 0.01316
NM_000497.4(CYP11B1):c.1353T>C (p.Leu451=) rs5316 0.01232
NM_000497.4(CYP11B1):c.*1076C>T rs61752806 0.01209
NM_000498.3(CYP11B2):c.85G>A (p.Ala29Thr) rs6438 0.01088
NM_000497.4(CYP11B1):c.*193A>T rs61752798 0.01010
NM_000498.3(CYP11B2):c.842A>G (p.Asn281Ser) rs4537 0.00890
NM_000497.4(CYP11B1):c.*1512G>A rs61752814 0.00880
NM_000497.4(CYP11B1):c.*1258G>A rs61752808 0.00878
NM_000497.4(CYP11B1):c.*468C>T rs114832894 0.00774
NM_000498.3(CYP11B2):c.1080C>T (p.Thr360=) rs142179598 0.00766
NM_000497.4(CYP11B1):c.239+13C>A rs6402 0.00753
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=) rs9657022 0.00726
NM_000497.4(CYP11B1):c.*1138del rs148110533 0.00599
NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr) rs4547 0.00598
NM_000498.3(CYP11B2):c.-14G>C rs6440 0.00397
NM_000498.3(CYP11B2):c.89G>A (p.Arg30Gln) rs6441 0.00391
NM_000497.4(CYP11B1):c.825T>C (p.Tyr275=) rs5290 0.00338
NM_000497.4(CYP11B1):c.1003A>G (p.Asn335Asp) rs61752766 0.00248
NM_000497.4(CYP11B1):c.395+9C>T rs61751140 0.00235
NM_000497.4(CYP11B1):c.823T>C (p.Tyr275His) rs141368413 0.00177
NM_000497.4(CYP11B1):c.1014G>A (p.Gln338=) rs151335623 0.00158
NM_000497.4(CYP11B1):c.*634G>A rs1137481 0.00126
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_000497.4(CYP11B1):c.743C>T (p.Thr248Ile) rs34620645 0.00095
NM_000498.3(CYP11B2):c.*789G>A rs61763990 0.00095
NM_000498.3(CYP11B2):c.111G>A (p.Pro37=) rs5281 0.00053
NM_000497.4(CYP11B1):c.1042G>A (p.Ala348Thr) rs6407 0.00044
NM_000497.4(CYP11B1):c.*614C>T rs772616356 0.00040
NM_000497.4(CYP11B1):c.554C>G (p.Thr185Ser) rs566921201 0.00035
NM_000497.4(CYP11B1):c.*718T>G rs189479208 0.00032
NM_000497.4(CYP11B1):c.930A>G (p.Glu310=) rs148707144 0.00029
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_000497.4(CYP11B1):c.*613A>G rs1137480 0.00024
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_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.449C>T (p.Ser150Leu) rs142484434 0.00014
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_000497.4(CYP11B1):c.104T>C (p.Val35Ala) rs201951316 0.00011
NM_000497.4(CYP11B1):c.*1209C>T rs757505651 0.00010
NM_000498.3(CYP11B2):c.*504C>T rs201487778 0.00010
NM_000497.4(CYP11B1):c.*946G>A rs1312537684 0.00009
NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp) rs374517238 0.00009
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_000497.4(CYP11B1):c.1144C>T (p.Leu382=) rs5293 0.00007
NM_000497.4(CYP11B1):c.*857T>C rs370725779 0.00006
NM_000497.4(CYP11B1):c.541C>T (p.Arg181Trp) rs373856010 0.00006
NM_000498.3(CYP11B2):c.*205G>A rs1296538192 0.00006
NM_000497.4(CYP11B1):c.*670A>C rs879537131 0.00005
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_000497.4(CYP11B1):c.*1435T>C rs551125657 0.00004
NM_000497.4(CYP11B1):c.1465T>C (p.Leu489=) rs373736765 0.00004
NM_000497.4(CYP11B1):c.218A>G (p.Gln73Arg) rs371662064 0.00004
NM_000497.4(CYP11B1):c.736C>T (p.Arg246Cys) rs777913851 0.00004
NM_000497.4(CYP11B1):c.957G>A (p.Thr319=) rs762599130 0.00004
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_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.595+14G>A rs1208266252 0.00003
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_000497.4(CYP11B1):c.*1622C>T rs543935807 0.00002
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_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.1090T>C (p.Leu364=) rs754660381 0.00001
NM_000497.4(CYP11B1):c.1200+11C>T rs753651666 0.00001
NM_000497.4(CYP11B1):c.206A>G (p.His69Arg) rs747287245 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.413G>A (p.Arg138His) rs193922540 0.00001
NM_000497.4(CYP11B1):c.802G>A (p.Asp268Asn) rs748180875 0.00001
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_000497.4(CYP11B1):c.*1012A>C rs1816847260
NM_000497.4(CYP11B1):c.*1020C>T rs5017238
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.*1555del rs548944247
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.*193A>C rs61752798
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.1120C>A (p.Arg374=) rs61752786
NM_000497.4(CYP11B1):c.1205T>C (p.Leu402Ser) rs886062738
NM_000497.4(CYP11B1):c.1488C>T (p.Leu496=) rs776766470
NM_000497.4(CYP11B1):c.334A>C (p.Ser112Arg) rs770400476
NM_000497.4(CYP11B1):c.385G>A (p.Val129Met) rs377423817
NM_000497.4(CYP11B1):c.450G>A (p.Ser150=) rs778556211
NM_000497.4(CYP11B1):c.542G>C (p.Arg181Pro) rs146105017
NM_000497.4(CYP11B1):c.595+12G>A rs6387
NM_000497.4(CYP11B1):c.606G>A (p.Leu202=) rs61751154
NM_000497.4(CYP11B1):c.632T>C (p.Leu211Pro) rs368125568
NM_000497.4(CYP11B1):c.746G>A (p.Ser249Asn) rs1816964007
NM_000497.4(CYP11B1):c.748C>T (p.Pro250Ser) rs753471858
NM_000497.4(CYP11B1):c.912C>G (p.Ile304Met) rs751843934
NM_000497.4(CYP11B1):c.954+9G>C rs6411
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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