ClinVar Miner

List of variants studied for adrenal gland hyperfunction

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 254
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HGVS dbSNP
CLCN2, ARG172GLN
CLCN2, LYS362DEL
CLCN2, MET22LYS
CLCN2, SER865ARG
CLCN2, TYR26ASN
CYP11B1, CYP11B1/CYP11B2 ANTI-LEPORE-LIKE CHIMERA
NM_000497.3(CYP11B1):c.*1020C>T rs5017238
NM_000497.3(CYP11B1):c.*1042A>G rs7003319
NM_000497.3(CYP11B1):c.*1076C>T rs61752806
NM_000497.3(CYP11B1):c.*1138del rs148110533
NM_000497.3(CYP11B1):c.*1164G>A rs886062735
NM_000497.3(CYP11B1):c.*1209C>T rs757505651
NM_000497.3(CYP11B1):c.*1258G>A rs61752808
NM_000497.3(CYP11B1):c.*1288A>G rs61752809
NM_000497.3(CYP11B1):c.*132T>C rs5297
NM_000497.3(CYP11B1):c.*1358T>C rs886062734
NM_000497.3(CYP11B1):c.*1417G>A rs61752812
NM_000497.3(CYP11B1):c.*1435T>C rs551125657
NM_000497.3(CYP11B1):c.*1499C>T rs1134095
NM_000497.3(CYP11B1):c.*1512G>A rs61752814
NM_000497.3(CYP11B1):c.*1555del rs548944247
NM_000497.3(CYP11B1):c.*1566G>T rs1134096
NM_000497.3(CYP11B1):c.*1590G>C rs886062733
NM_000497.3(CYP11B1):c.*1622C>T rs543935807
NM_000497.3(CYP11B1):c.*1770A>T rs369448045
NM_000497.3(CYP11B1):c.*1852T>G rs4736312
NM_000497.3(CYP11B1):c.*1871T>A rs61752818
NM_000497.3(CYP11B1):c.*193A>T rs61752798
NM_000497.3(CYP11B1):c.*245C>G rs538608688
NM_000497.3(CYP11B1):c.*318A>G rs5299
NM_000497.3(CYP11B1):c.*400C>T rs61752801
NM_000497.3(CYP11B1):c.*468C>T rs114832894
NM_000497.3(CYP11B1):c.*471A>C rs12543598
NM_000497.3(CYP11B1):c.*485C>G rs886062737
NM_000497.3(CYP11B1):c.*495C>T rs886062736
NM_000497.3(CYP11B1):c.*516A>G rs5301
NM_000497.3(CYP11B1):c.*613A>G rs1137480
NM_000497.3(CYP11B1):c.*634G>A rs1137481
NM_000497.3(CYP11B1):c.*670A>C rs879537131
NM_000497.3(CYP11B1):c.*694T>C rs5303
NM_000497.3(CYP11B1):c.*718T>G rs189479208
NM_000497.3(CYP11B1):c.*737C>T rs748684062
NM_000497.3(CYP11B1):c.*738G>A rs5304
NM_000497.3(CYP11B1):c.*848C>T rs149520110
NM_000497.3(CYP11B1):c.*857T>C rs370725779
NM_000497.3(CYP11B1):c.*901G>A rs748103274
NM_000497.3(CYP11B1):c.*923G>C rs61752805
NM_000497.3(CYP11B1):c.1003A>G (p.Asn335Asp) rs61752766
NM_000497.3(CYP11B1):c.1014G>A (p.Gln338=) rs151335623
NM_000497.3(CYP11B1):c.1042G>A (p.Ala348Thr) rs6407
NM_000497.3(CYP11B1):c.104T>C (p.Val35Ala) rs201951316
NM_000497.3(CYP11B1):c.1066C>T (p.Gln356Ter) rs146124466
NM_000497.3(CYP11B1):c.1086G>C (p.Leu362=) rs6403
NM_000497.3(CYP11B1):c.1090T>C (p.Leu364=) rs754660381
NM_000497.3(CYP11B1):c.1098T>G (p.Arg366=) rs61752769
NM_000497.3(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.3(CYP11B1):c.1144C>T (p.Leu382=) rs5293
NM_000497.3(CYP11B1):c.1151G>A (p.Arg384Gln) rs764598023
NM_000497.3(CYP11B1):c.1157C>T (p.Ala386Val) rs4541
NM_000497.3(CYP11B1):c.1205T>C (p.Leu402Ser) rs886062738
NM_000497.3(CYP11B1):c.128G>A (p.Arg43Gln) rs4534
NM_000497.3(CYP11B1):c.1353T>C (p.Leu451=) rs5316
NM_000497.3(CYP11B1):c.1399-14G>C rs5295
NM_000497.3(CYP11B1):c.1451T>A (p.Val484Asp) rs374517238
NM_000497.3(CYP11B1):c.1488C>T (p.Leu496=) rs776766470
NM_000497.3(CYP11B1):c.225A>G (p.Leu75=) rs6410
NM_000497.3(CYP11B1):c.239+13C>A rs6402
NM_000497.3(CYP11B1):c.243C>T (p.Tyr81=) rs9657022
NM_000497.3(CYP11B1):c.246C>T (p.Asp82=) rs5283
NM_000497.3(CYP11B1):c.375C>G (p.His125Gln) rs201137503
NM_000497.3(CYP11B1):c.554C>G (p.Thr185Ser) rs566921201
NM_000497.3(CYP11B1):c.595+12G>A rs6387
NM_000497.3(CYP11B1):c.606G>A (p.Leu202=) rs61751154
NM_000497.3(CYP11B1):c.743C>T (p.Thr248Ile) rs34620645
NM_000497.3(CYP11B1):c.748C>T (p.Pro250Ser) rs753471858
NM_000497.3(CYP11B1):c.800-14C>T rs4535
NM_000497.3(CYP11B1):c.823T>C (p.Tyr275His) rs141368413
NM_000497.3(CYP11B1):c.825T>C (p.Tyr275=) rs5290
NM_000497.3(CYP11B1):c.873G>A (p.Ala291=) rs34570566
NM_000497.3(CYP11B1):c.930A>G (p.Glu310=) rs148707144
NM_000497.3(CYP11B1):c.954+9G>C rs6411
NM_000498.3(CYP11B2):c.*1047C>T rs886062739
NM_000498.3(CYP11B2):c.*1178T>C rs3802228
NM_000498.3(CYP11B2):c.*1246_*1248del rs576148290
NM_000498.3(CYP11B2):c.*204C>G rs773811282
NM_000498.3(CYP11B2):c.*239T>C rs9297975
NM_000498.3(CYP11B2):c.*292_*294dup rs3839864
NM_000498.3(CYP11B2):c.*299G>A rs528171695
NM_000498.3(CYP11B2):c.*431A>C rs886062742
NM_000498.3(CYP11B2):c.*504C>T rs201487778
NM_000498.3(CYP11B2):c.*532G>T rs3802230
NM_000498.3(CYP11B2):c.*537C>T rs72499120
NM_000498.3(CYP11B2):c.*566C>T rs375938097
NM_000498.3(CYP11B2):c.*579T>C rs559136479
NM_000498.3(CYP11B2):c.*735G>A rs28491316
NM_000498.3(CYP11B2):c.*743C>T rs886062741
NM_000498.3(CYP11B2):c.*744G>A rs28390200
NM_000498.3(CYP11B2):c.*746G>A rs570202161
NM_000498.3(CYP11B2):c.*789G>A rs61763990
NM_000498.3(CYP11B2):c.*81G>A rs3097
NM_000498.3(CYP11B2):c.*972C>G rs886062740
NM_000498.3(CYP11B2):c.-14G>C rs6440
NM_000498.3(CYP11B2):c.1006G>A (p.Val336Met) rs373369254
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.1021C>T (p.Arg341Cys) rs562670189
NM_000498.3(CYP11B2):c.1039G>A (p.Ala347Thr) rs746708275
NM_000498.3(CYP11B2):c.1080C>T (p.Thr360=) rs142179598
NM_000498.3(CYP11B2):c.1098G>T (p.Arg366=) rs61757297
NM_000498.3(CYP11B2):c.1101G>A (p.Ala367=) rs371450047
NM_000498.3(CYP11B2):c.111G>A (p.Pro37=) rs5281
NM_000498.3(CYP11B2):c.1120C>A (p.Arg374=) rs4538
NM_000498.3(CYP11B2):c.1144T>C (p.Leu382=) rs61757295
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala) rs61757294
NM_000498.3(CYP11B2):c.1170G>A (p.Leu390=) rs5313
NM_000498.3(CYP11B2):c.256C>G (p.Pro86Ala) rs200283987
NM_000498.3(CYP11B2):c.352G>A (p.Ala118Thr) rs372556807
NM_000498.3(CYP11B2):c.395+10G>A rs193166276
NM_000498.3(CYP11B2):c.424T>C (p.Leu142=) rs199988205
NM_000498.3(CYP11B2):c.476C>T (p.Pro159Leu) rs563073392
NM_000498.3(CYP11B2):c.477G>A (p.Pro159=) rs375242946
NM_000498.3(CYP11B2):c.504C>T (p.Phe168=) rs4546
NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) rs4539
NM_000498.3(CYP11B2):c.529C>T (p.Leu177=) rs577489337
NM_000498.3(CYP11B2):c.591A>G (p.Ile197Met) rs886062744
NM_000498.3(CYP11B2):c.595+14G>A rs5307
NM_000498.3(CYP11B2):c.595+15G>T rs886062743
NM_000498.3(CYP11B2):c.606A>G (p.Leu202=) rs113284476
NM_000498.3(CYP11B2):c.640C>G (p.His214Asp) rs551933154
NM_000498.3(CYP11B2):c.674A>G (p.His225Arg) rs144140791
NM_000498.3(CYP11B2):c.752A>G (p.Lys251Arg) rs752962897
NM_000498.3(CYP11B2):c.800-14T>C rs563246146
NM_000498.3(CYP11B2):c.842A>G (p.Asn281Ser) rs4537
NM_000498.3(CYP11B2):c.844C>T (p.Arg282Cys) rs774989997
NM_000498.3(CYP11B2):c.867C>T (p.Ile289=) rs547347545
NM_000498.3(CYP11B2):c.873G>A (p.Ala291=) rs4536
NM_000498.3(CYP11B2):c.891G>A (p.Ala297=) rs4543
NM_000498.3(CYP11B2):c.89G>A (p.Arg30Gln) rs6441
NM_000498.3(CYP11B2):c.945C>T (p.Ser315=) rs759178574
NM_000498.3(CYP11B2):c.959C>T (p.Ala320Val) rs201830462
NM_000890.5(KCNJ5):c.*1024A>G rs886048018
NM_000890.5(KCNJ5):c.*103G>C rs886048012
NM_000890.5(KCNJ5):c.*1063G>A rs2846696
NM_000890.5(KCNJ5):c.*1091G>A rs565178107
NM_000890.5(KCNJ5):c.*1151C>T rs886048019
NM_000890.5(KCNJ5):c.*1168C>G rs1137937
NM_000890.5(KCNJ5):c.*1216C>T rs566376081
NM_000890.5(KCNJ5):c.*121G>T rs78979538
NM_000890.5(KCNJ5):c.*1302C>T rs552826605
NM_000890.5(KCNJ5):c.*1310C>T rs537850039
NM_000890.5(KCNJ5):c.*1323del rs886048020
NM_000890.5(KCNJ5):c.*1338C>A rs6590358
NM_000890.5(KCNJ5):c.*1338del rs144472942
NM_000890.5(KCNJ5):c.*200C>A rs756204980
NM_000890.5(KCNJ5):c.*228G>T rs886048013
NM_000890.5(KCNJ5):c.*34G>T rs116494206
NM_000890.5(KCNJ5):c.*378dup rs397799938
NM_000890.5(KCNJ5):c.*410C>T rs2846675
NM_000890.5(KCNJ5):c.*449A>T rs115414355
NM_000890.5(KCNJ5):c.*528C>T rs3867250
NM_000890.5(KCNJ5):c.*547G>A rs114896724
NM_000890.5(KCNJ5):c.*667C>T rs886048014
NM_000890.5(KCNJ5):c.*747A>G rs886048015
NM_000890.5(KCNJ5):c.*759C>T rs75453162
NM_000890.5(KCNJ5):c.*779G>T rs4373934
NM_000890.5(KCNJ5):c.*804G>T rs2604204
NM_000890.5(KCNJ5):c.*861_*865GTTTT[7] rs36205004
NM_000890.5(KCNJ5):c.*861_*865GTTTT[8] rs36205004
NM_000890.5(KCNJ5):c.*928C>T rs7925056
NM_000890.5(KCNJ5):c.*936C>G rs77525858
NM_000890.5(KCNJ5):c.*936C>T rs77525858
NM_000890.5(KCNJ5):c.*960G>C rs186315097
NM_000890.5(KCNJ5):c.*96G>A rs77092337
NM_000890.5(KCNJ5):c.*976G>A rs7102315
NM_000890.5(KCNJ5):c.*977T>C rs181648220
NM_000890.5(KCNJ5):c.*978T>G rs886048017
NM_000890.5(KCNJ5):c.-253G>T rs886048009
NM_000890.5(KCNJ5):c.-258_-255del rs886048008
NM_000890.5(KCNJ5):c.-272A>G rs886048007
NM_000890.5(KCNJ5):c.-284_-283insAAGAGA rs886048005
NM_000890.5(KCNJ5):c.-285G>C rs886048006
NM_000890.5(KCNJ5):c.-287G>C rs868130049
NM_000890.5(KCNJ5):c.-289G>C rs60658163
NM_000890.5(KCNJ5):c.-289_-288GA[18] rs71057905
NM_000890.5(KCNJ5):c.-289_-288GA[19] rs71057905
NM_000890.5(KCNJ5):c.-289_-288GA[20] rs71057905
NM_000890.5(KCNJ5):c.-291_-286del rs886048002
NM_000890.5(KCNJ5):c.-291_-288del rs886048001
NM_000890.5(KCNJ5):c.-291_-290GA[3] rs886048000
NM_000890.5(KCNJ5):c.-291delinsGAGAGAGAG rs886048003
NM_000890.5(KCNJ5):c.-291delinsGAGAGAGAGAG rs886048003
NM_000890.5(KCNJ5):c.-293C>G rs376640553
NM_000890.5(KCNJ5):c.-293_-288del rs886047997
NM_000890.5(KCNJ5):c.-293_-289delinsGAGAGAGAGAGAA rs886047999
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-293_-292GA[3] rs886047996
NM_000890.5(KCNJ5):c.-293_-292GA[4] rs886047996
NM_000890.5(KCNJ5):c.-294_-293insGAGA rs886047996
NM_000890.5(KCNJ5):c.-295C>G rs372328307
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAG rs886047995
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAGAG rs886047995
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAGAGAGAGAG rs886047995
NM_000890.5(KCNJ5):c.-295_-294GA[3] rs886047994
NM_000890.5(KCNJ5):c.-297_-291delinsGAGAGAGAGAGAGAG rs886047993
NM_000890.5(KCNJ5):c.-297_-291delinsGAGAGAGAGAGAGAGAG rs886047993
NM_000890.5(KCNJ5):c.-299_-291delinsGAGAG rs886047992
NM_000890.5(KCNJ5):c.-301_-291delinsG rs886047990
NM_000890.5(KCNJ5):c.-301_-291delinsGAG rs886047990
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAG rs886047990
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAGAG rs886047990
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAGAGAGAGAGAG rs886047990
NM_000890.5(KCNJ5):c.-303_-291delinsGAG rs886047988
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAG rs886047988
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAGAG rs886047988
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAGAGAGAGAGAGAGAGAGAG rs886047988
NM_000890.5(KCNJ5):c.-305_-291delinsGAGAG rs886047987
NM_000890.5(KCNJ5):c.-333_-332CA[24] rs113761140
NM_000890.5(KCNJ5):c.-63G>C rs557063967
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292
NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys) rs115012103
NM_000890.5(KCNJ5):c.1254G>A (p.Ser418=) rs528463709
NM_000890.5(KCNJ5):c.171T>C (p.Ser57=) rs6590357
NM_000890.5(KCNJ5):c.273C>T (p.Leu91=) rs146853795
NM_000890.5(KCNJ5):c.430A>G (p.Ile144Val) rs369703183
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg) rs386352319
NM_000890.5(KCNJ5):c.452G>A (p.Gly151Glu) rs587777437
NM_000890.5(KCNJ5):c.470T>G (p.Ile157Ser) rs587777438
NM_000890.5(KCNJ5):c.472A>G (p.Thr158Ala) rs387906778
NM_000890.5(KCNJ5):c.591G>A (p.Ala197=) rs750048771
NM_000890.5(KCNJ5):c.736G>A (p.Glu246Lys) rs587777439
NM_000890.5(KCNJ5):c.744G>A (p.Glu248=) rs144040058
NM_000890.5(KCNJ5):c.800G>A (p.Arg267His) rs886048010
NM_000890.5(KCNJ5):c.810T>G (p.Leu270=) rs7118824
NM_000890.5(KCNJ5):c.834T>C (p.His278=) rs7118833
NM_000890.5(KCNJ5):c.844C>G (p.Gln282Glu) rs7102584
NM_000890.5(KCNJ5):c.937+7C>T rs45516097
NM_000890.5(KCNJ5):c.938-10G>A rs4937391
NM_000890.5(KCNJ5):c.957G>A (p.Arg319=) rs192889782
NM_000890.5(KCNJ5):c.968T>C (p.Met323Thr) rs886048011
NM_001128840.3(CACNA1D):c.1220+678G>A rs386834264
NM_001128840.3(CACNA1D):c.2250C>G (p.Ile750Met) rs41276445
NM_001128840.3(CACNA1D):c.5498A>G (p.Tyr1833Cys) rs1559716901
NM_001128840.3(CACNA1D):c.5837G>A (p.Arg1946His) rs150366975
NM_004366.6(CLCN2):c.1084A>T (p.Lys362Ter) rs1553856214
NM_004366.6(CLCN2):c.2593A>C (p.Ser865Arg) rs1553853557
NM_004366.6(CLCN2):c.515G>A (p.Arg172Gln) rs1293789661
NM_004366.6(CLCN2):c.65T>A (p.Met22Lys) rs758379595
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) rs71318369
NM_004366.6(CLCN2):c.71G>A (p.Gly24Asp) rs1085307938
NM_004366.6(CLCN2):c.76T>A (p.Tyr26Asn) rs1553857113

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