ClinVar Miner

List of variants studied for corticosterone methyloxidase type 1 deficiency

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 154
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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.1122-126T>C rs6394 0.88009
NM_000498.3(CYP11B2):c.396-303C>T rs28526467 0.76506
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.1122-20A>G rs6435 0.59817
NM_000498.3(CYP11B2):c.1120C>A (p.Arg374=) rs4538 0.54644
NM_000498.3(CYP11B2):c.396-262G>A rs28394055 0.54016
NM_000498.3(CYP11B2):c.396-191T>C rs28366703 0.50662
NM_000498.3(CYP11B2):c.1122-95T>A rs79201878 0.50218
NM_000498.3(CYP11B2):c.1122-48A>G rs6397 0.46888
NM_000498.3(CYP11B2):c.955-77A>C rs13252628 0.42906
NM_000498.3(CYP11B2):c.596-39T>C rs6418 0.41570
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.395+49G>A rs13268153 0.30447
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.-14G>C rs6440 0.00397
NM_000498.3(CYP11B2):c.89G>A (p.Arg30Gln) rs6441 0.00391
NM_000498.3(CYP11B2):c.1272T>C (p.Asn424=) rs75506816 0.00220
NM_000498.3(CYP11B2):c.679C>T (p.Leu227=) rs139346202 0.00200
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.282G>A (p.Pro94=) rs141789054 0.00081
NM_000498.3(CYP11B2):c.414C>T (p.Arg138=) rs369108075 0.00065
NM_000498.3(CYP11B2):c.111G>A (p.Pro37=) rs5281 0.00053
NM_000498.3(CYP11B2):c.801T>C (p.Gly267=) rs201063442 0.00030
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.102G>A (p.Thr34=) rs367950425 0.00013
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.594A>C (p.Glu198Asp) rs104894072 0.00011
NM_000498.3(CYP11B2):c.*504C>T rs201487778 0.00010
NM_000498.3(CYP11B2):c.635T>C (p.Val212Ala) rs778346287 0.00010
NM_000498.3(CYP11B2):c.1006G>A (p.Val336Met) rs373369254 0.00009
NM_000498.3(CYP11B2):c.961T>A (p.Phe321Ile) rs368296597 0.00009
NM_000498.3(CYP11B2):c.424T>C (p.Leu142=) rs199988205 0.00008
NM_000498.3(CYP11B2):c.435C>T (p.Asn145=) rs200831024 0.00007
NM_000498.3(CYP11B2):c.*205G>A rs1296538192 0.00006
NM_000498.3(CYP11B2):c.674A>G (p.His225Arg) rs144140791 0.00006
NM_000498.3(CYP11B2):c.*879G>A rs375657023 0.00005
NM_000498.3(CYP11B2):c.702C>T (p.Thr234=) rs771614097 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.1096C>T (p.Arg366Trp) rs148659506 0.00004
NM_000498.3(CYP11B2):c.1398+1G>A rs539836429 0.00004
NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile) rs121912978 0.00004
NM_000498.3(CYP11B2):c.59G>A (p.Arg20Lys) rs1463986346 0.00004
NM_000498.3(CYP11B2):c.72G>A (p.Leu24=) rs768219160 0.00004
NM_000498.3(CYP11B2):c.786C>T (p.Cys262=) rs141645920 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.78T>G (p.Thr26=) rs201423805 0.00003
NM_000498.3(CYP11B2):c.800-14T>C rs563246146 0.00003
NM_000498.3(CYP11B2):c.953C>T (p.Thr318Met) rs765921219 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.1030A>G (p.Ser344Gly) rs770281644 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.763G>T (p.Glu255Ter) rs121912977 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.954G>A (p.Thr318=) rs760329766 0.00002
NM_000498.3(CYP11B2):c.996G>C (p.Arg332=) rs781061958 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.101C>T (p.Thr34Met) rs753988592 0.00001
NM_000498.3(CYP11B2):c.1039G>A (p.Ala347Thr) rs746708275 0.00001
NM_000498.3(CYP11B2):c.1200+1G>A rs761385416 0.00001
NM_000498.3(CYP11B2):c.1201-8G>A rs767809371 0.00001
NM_000498.3(CYP11B2):c.1216T>G (p.Phe406Val) rs1817560561 0.00001
NM_000498.3(CYP11B2):c.1265G>A (p.Arg422Gln) rs776680043 0.00001
NM_000498.3(CYP11B2):c.1343G>A (p.Arg448His) rs1311444460 0.00001
NM_000498.3(CYP11B2):c.1382T>C (p.Leu461Pro) rs72554627 0.00001
NM_000498.3(CYP11B2):c.157C>T (p.Leu53=) rs747248100 0.00001
NM_000498.3(CYP11B2):c.237C>T (p.Phe79=) rs1415124302 0.00001
NM_000498.3(CYP11B2):c.240-2A>G rs1442525444 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.39G>A (p.Ala13=) rs754286042 0.00001
NM_000498.3(CYP11B2):c.449C>T (p.Ser150Leu) rs768685630 0.00001
NM_000498.3(CYP11B2):c.682G>T (p.Glu228Ter) rs1817612031 0.00001
NM_000498.3(CYP11B2):c.843C>T (p.Asn281=) rs763373087 0.00001
NM_000498.3(CYP11B2):c.867C>T (p.Ile289=) rs547347545 0.00001
NM_000498.3(CYP11B2):c.954+7C>T rs772188358 0.00001
NM_000498.3(CYP11B2):c.978G>A (p.Thr326=) rs374863640 0.00001
GRCh37/hg19 8q24.3(chr8:143958418-143996344)
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.1035G>C (p.Leu345=) rs780878883
NM_000498.3(CYP11B2):c.104_109delinsG (p.Val35fs) rs2130336602
NM_000498.3(CYP11B2):c.1122-87C>G rs6429
NM_000498.3(CYP11B2):c.1122-90C>G rs79410128
NM_000498.3(CYP11B2):c.1136G>T (p.Gly379Val) rs1409744694
NM_000498.3(CYP11B2):c.1201-9C>G rs750931398
NM_000498.3(CYP11B2):c.1239_1240delinsCC (p.Ala414Pro) rs2130324931
NM_000498.3(CYP11B2):c.1398+10C>T rs1817553996
NM_000498.3(CYP11B2):c.139_148del (p.Gly46_Asn47insTer) rs63748989
NM_000498.3(CYP11B2):c.1441A>T (p.Ile481Leu) rs1817545728
NM_000498.3(CYP11B2):c.144G>A (p.Arg48=) rs1817673208
NM_000498.3(CYP11B2):c.1454A>G (p.Tyr485Cys) rs1817545422
NM_000498.3(CYP11B2):c.240-32C>T rs13276226
NM_000498.3(CYP11B2):c.240-9del rs61757314
NM_000498.3(CYP11B2):c.423_428dup (p.Leu144_Asn145insArgLeu) rs1817623118
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.799+10G>C rs1254465968
NM_000498.3(CYP11B2):c.799+140C>T rs28531895
NM_000498.3(CYP11B2):c.874G>A (p.Glu292Lys)
NM_000498.3(CYP11B2):c.922T>C (p.Ser308Pro) rs1351295710
NM_000498.3(CYP11B2):c.924T>C (p.Ser308=) rs764640232
NM_000498.3(CYP11B2):c.93C>T (p.Ala31=) rs1817675047
NM_000498.3(CYP11B2):c.[594A>C;1157T>C]

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