ClinVar Miner

List of variants studied for hypoaldosteronism disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) rs4539 0.38300
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala) rs61757294 0.08654
NM_000498.3(CYP11B2):c.606A>G (p.Leu202=) rs113284476 0.01323
NM_000498.3(CYP11B2):c.842A>G (p.Asn281Ser) rs4537 0.00890
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.414C>T (p.Arg138=) rs369108075 0.00065
NM_000498.3(CYP11B2):c.111G>A (p.Pro37=) rs5281 0.00053
NM_000498.3(CYP11B2):c.83C>T (p.Ala28Val) rs143027239 0.00031
NM_000498.3(CYP11B2):c.594A>C (p.Glu198Asp) rs104894072 0.00011
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.412C>T (p.Arg138Cys) rs777780952 0.00009
NM_000498.3(CYP11B2):c.441T>A (p.Asp147Glu) rs151052374 0.00009
NM_000498.3(CYP11B2):c.961T>A (p.Phe321Ile) rs368296597 0.00009
NM_000498.3(CYP11B2):c.1022G>A (p.Arg341His) rs370011030 0.00008
NM_000498.3(CYP11B2):c.435C>T (p.Asn145=) rs200831024 0.00007
NM_000498.3(CYP11B2):c.493G>T (p.Ala165Ser) rs529683430 0.00007
NM_000498.3(CYP11B2):c.384C>T (p.Gly128=) rs147927980 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.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.65G>A (p.Arg22Gln) rs200559721 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.260G>A (p.Arg87His) rs778618899 0.00003
NM_000498.3(CYP11B2):c.78T>G (p.Thr26=) rs201423805 0.00003
NM_000498.3(CYP11B2):c.953C>T (p.Thr318Met) rs765921219 0.00003
NM_000498.3(CYP11B2):c.955-10G>T rs761292212 0.00003
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.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.101C>T (p.Thr34Met) rs753988592 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.1265G>A (p.Arg422Gln) rs776680043 0.00001
NM_000498.3(CYP11B2):c.1341G>A (p.Met447Ile) rs544454389 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.449C>T (p.Ser150Leu) rs768685630 0.00001
NM_000498.3(CYP11B2):c.541C>T (p.Arg181Trp) rs28931609 0.00001
NM_000498.3(CYP11B2):c.682G>T (p.Glu228Ter) rs1817612031 0.00001
NM_000498.3(CYP11B2):c.799+2T>C rs1258317232 0.00001
NM_000498.3(CYP11B2):c.843C>T (p.Asn281=) rs763373087 0.00001
NM_000498.3(CYP11B2):c.84C>T (p.Ala28=) rs745626507 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.1002del (p.Asp335fs)
NM_000498.3(CYP11B2):c.1003G>A (p.Asp335Asn)
NM_000498.3(CYP11B2):c.1028A>T (p.Glu343Val)
NM_000498.3(CYP11B2):c.1035G>C (p.Leu345=) rs780878883
NM_000498.3(CYP11B2):c.1097G>A (p.Arg366Gln)
NM_000498.3(CYP11B2):c.10_11del (p.Arg4fs)
NM_000498.3(CYP11B2):c.1100C>T (p.Ala367Val)
NM_000498.3(CYP11B2):c.1122-11C>A
NM_000498.3(CYP11B2):c.1122G>T (p.Arg374=)
NM_000498.3(CYP11B2):c.1128C>A (p.Tyr376Ter)
NM_000498.3(CYP11B2):c.1133T>C (p.Val378Ala)
NM_000498.3(CYP11B2):c.1151G>A (p.Arg384Gln)
NM_000498.3(CYP11B2):c.1151G>C (p.Arg384Pro)
NM_000498.3(CYP11B2):c.1200G>C (p.Gly400=)
NM_000498.3(CYP11B2):c.1210C>T (p.Gln404Ter)
NM_000498.3(CYP11B2):c.121A>G (p.Met41Val)
NM_000498.3(CYP11B2):c.1239_1240delinsCC (p.Ala414Pro) rs2130324931
NM_000498.3(CYP11B2):c.1243G>A (p.Ala415Thr)
NM_000498.3(CYP11B2):c.124C>A (p.Pro42Thr)
NM_000498.3(CYP11B2):c.1253C>G (p.Pro418Arg)
NM_000498.3(CYP11B2):c.1261G>A (p.Glu421Lys)
NM_000498.3(CYP11B2):c.1264C>T (p.Arg422Trp)
NM_000498.3(CYP11B2):c.1279C>T (p.Arg427Cys)
NM_000498.3(CYP11B2):c.1298G>A (p.Gly433Asp)
NM_000498.3(CYP11B2):c.1300T>C (p.Ser434Pro)
NM_000498.3(CYP11B2):c.1301C>A (p.Ser434Tyr)
NM_000498.3(CYP11B2):c.1320C>G (p.His440Gln)
NM_000498.3(CYP11B2):c.1379TGC[4] (p.Leu464del)
NM_000498.3(CYP11B2):c.1398+4A>T
NM_000498.3(CYP11B2):c.1399-2A>G
NM_000498.3(CYP11B2):c.139_148del (p.Gly46_Asn47insTer) rs63748989
NM_000498.3(CYP11B2):c.1420G>A (p.Glu474Lys)
NM_000498.3(CYP11B2):c.1446G>C (p.Lys482Asn)
NM_000498.3(CYP11B2):c.1449G>T (p.Met483Ile)
NM_000498.3(CYP11B2):c.144G>A (p.Arg48=) rs1817673208
NM_000498.3(CYP11B2):c.1487T>C (p.Leu496Pro)
NM_000498.3(CYP11B2):c.1502C>A (p.Ala501Glu)
NM_000498.3(CYP11B2):c.1508A>C (p.Asn503Thr)
NM_000498.3(CYP11B2):c.205C>T (p.His69Tyr)
NM_000498.3(CYP11B2):c.212C>A (p.Thr71Asn)
NM_000498.3(CYP11B2):c.229C>T (p.Pro77Ser)
NM_000498.3(CYP11B2):c.259C>T (p.Arg87Cys)
NM_000498.3(CYP11B2):c.262A>G (p.Met88Val)
NM_000498.3(CYP11B2):c.263T>A (p.Met88Lys)
NM_000498.3(CYP11B2):c.278_281dup (p.Glu95fs)
NM_000498.3(CYP11B2):c.287A>C (p.Asp96Ala)
NM_000498.3(CYP11B2):c.2T>C (p.Met1Thr)
NM_000498.3(CYP11B2):c.301C>A (p.Gln101Lys)
NM_000498.3(CYP11B2):c.317T>C (p.Leu106Pro)
NM_000498.3(CYP11B2):c.31G>A (p.Val11Met)
NM_000498.3(CYP11B2):c.353C>G (p.Ala118Gly)
NM_000498.3(CYP11B2):c.385G>A (p.Val129Met)
NM_000498.3(CYP11B2):c.395+1G>A rs774948236
NM_000498.3(CYP11B2):c.395+9C>T
NM_000498.3(CYP11B2):c.396-2A>G
NM_000498.3(CYP11B2):c.428G>A (p.Arg143Gln)
NM_000498.3(CYP11B2):c.446_449dup (p.Pro151fs)
NM_000498.3(CYP11B2):c.448T>A (p.Ser150Thr)
NM_000498.3(CYP11B2):c.467G>A (p.Arg156Lys)
NM_000498.3(CYP11B2):c.479T>C (p.Met160Thr)
NM_000498.3(CYP11B2):c.508C>T (p.Gln170Ter)
NM_000498.3(CYP11B2):c.512C>T (p.Ala171Val)
NM_000498.3(CYP11B2):c.517AAG[2] (p.Lys175del) rs746842822
NM_000498.3(CYP11B2):c.520A>T (p.Lys174Ter)
NM_000498.3(CYP11B2):c.522G>C (p.Lys174Asn)
NM_000498.3(CYP11B2):c.538G>A (p.Ala180Thr)
NM_000498.3(CYP11B2):c.542G>A (p.Arg181Gln)
NM_000498.3(CYP11B2):c.557T>C (p.Leu186Pro)
NM_000498.3(CYP11B2):c.596-13A>T
NM_000498.3(CYP11B2):c.596-4G>T
NM_000498.3(CYP11B2):c.598A>T (p.Ser200Cys)
NM_000498.3(CYP11B2):c.632T>A (p.Leu211Gln)
NM_000498.3(CYP11B2):c.64C>T (p.Arg22Trp)
NM_000498.3(CYP11B2):c.64del (p.Arg22fs)
NM_000498.3(CYP11B2):c.780G>A (p.Trp260Ter)
NM_000498.3(CYP11B2):c.781G>T (p.Asp261Tyr)
NM_000498.3(CYP11B2):c.788T>A (p.Ile263Asn)
NM_000498.3(CYP11B2):c.799+10G>C rs1254465968
NM_000498.3(CYP11B2):c.799G>A (p.Gly267Ser)
NM_000498.3(CYP11B2):c.800-11T>G
NM_000498.3(CYP11B2):c.800-13G>C
NM_000498.3(CYP11B2):c.800-2A>C
NM_000498.3(CYP11B2):c.802G>A (p.Asp268Asn)
NM_000498.3(CYP11B2):c.824A>G (p.Tyr275Cys)
NM_000498.3(CYP11B2):c.82G>A (p.Ala28Thr)
NM_000498.3(CYP11B2):c.850C>G (p.Gln284Glu)
NM_000498.3(CYP11B2):c.860C>A (p.Thr287Lys)
NM_000498.3(CYP11B2):c.93C>T (p.Ala31=) rs1817675047
NM_000498.3(CYP11B2):c.944G>T (p.Ser315Ile)
NM_000498.3(CYP11B2):c.968T>C (p.Leu323Ser)
NM_000498.3(CYP11B2):c.977C>T (p.Thr326Met)

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