ClinVar Miner

List of variants in gene CYP11B1, LOC106799833 studied for glucocorticoid-remediable aldosteronism

Included ClinVar conditions (2):
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Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_000497.4(CYP11B1):c.*132T>C rs5297 0.13529
NM_000497.4(CYP11B1):c.1399-14G>C rs5295 0.12635
NM_000497.4(CYP11B1):c.873G>A (p.Ala291=) rs34570566 0.08763
NM_000497.4(CYP11B1):c.800-14C>T rs4535 0.05537
NM_000497.4(CYP11B1):c.1157C>T (p.Ala386Val) rs4541 0.04552
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_000497.4(CYP11B1):c.1353T>C (p.Leu451=) rs5316 0.01232
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.988C>T (p.Leu330=) rs61752765 0.00216
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.456C>G (p.Asn152Lys) rs61751149 0.00112
NM_000497.4(CYP11B1):c.743C>T (p.Thr248Ile) rs34620645 0.00095
NM_000497.4(CYP11B1):c.459T>C (p.Ala153=) rs61751150 0.00079
NM_000497.4(CYP11B1):c.1042G>A (p.Ala348Thr) rs6407 0.00044
NM_000497.4(CYP11B1):c.554C>G (p.Thr185Ser) rs566921201 0.00035
NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter) rs146124466 0.00032
NM_000497.4(CYP11B1):c.930A>G (p.Glu310=) rs148707144 0.00029
NM_000497.4(CYP11B1):c.1015G>A (p.Ala339Thr) rs193922534 0.00023
NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu) rs142484434 0.00014
NM_000497.4(CYP11B1):c.395+10G>A rs768465089 0.00013
NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp) rs374517238 0.00009
NM_000497.4(CYP11B1):c.538G>A (p.Ala180Thr) rs140123041 0.00008
NM_000497.4(CYP11B1):c.1144C>T (p.Leu382=) rs5293 0.00007
NM_000497.4(CYP11B1):c.1021C>A (p.Arg341Ser) rs372115638 0.00006
NM_000497.4(CYP11B1):c.541C>T (p.Arg181Trp) rs373856010 0.00006
NM_000497.4(CYP11B1):c.799+5G>C rs193922542 0.00006
NM_000497.4(CYP11B1):c.457G>A (p.Ala153Thr) rs200151403 0.00005
NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp) rs61752786 0.00004
NM_000497.4(CYP11B1):c.1440C>T (p.Asp480=) rs576292844 0.00004
NM_000497.4(CYP11B1):c.1465T>C (p.Leu489=) rs373736765 0.00004
NM_000497.4(CYP11B1):c.537C>T (p.Asn179=) rs779461311 0.00004
NM_000497.4(CYP11B1):c.561C>T (p.Asp187=) rs772530391 0.00004
NM_000497.4(CYP11B1):c.736C>T (p.Arg246Cys) rs777913851 0.00004
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met) rs104894068 0.00004
NM_000497.4(CYP11B1):c.957G>A (p.Thr319=) rs762599130 0.00004
NM_000497.4(CYP11B1):c.595+14G>A rs1208266252 0.00003
NM_000497.4(CYP11B1):c.890C>T (p.Ala297Val) rs375892072 0.00003
NM_000497.4(CYP11B1):c.945C>T (p.Ser315=) rs372647044 0.00003
NM_000497.4(CYP11B1):c.1227T>G (p.Ser409=) rs765770519 0.00002
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His) rs28934586 0.00002
NM_000497.4(CYP11B1):c.1038C>T (p.Ala346=) rs776234575 0.00001
NM_000497.4(CYP11B1):c.1090T>C (p.Leu364=) rs754660381 0.00001
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln) rs764598023 0.00001
NM_000497.4(CYP11B1):c.1200+11C>T rs753651666 0.00001
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938 0.00001
NM_000497.4(CYP11B1):c.1389G>C (p.Leu463=) rs775013399 0.00001
NM_000497.4(CYP11B1):c.396-9C>T rs1324660372 0.00001
NM_000497.4(CYP11B1):c.413G>A (p.Arg138His) rs193922540 0.00001
NM_000497.4(CYP11B1):c.596-8C>T rs1201914437 0.00001
NM_000497.4(CYP11B1):c.627G>T (p.Leu209=) rs1377203108 0.00001
NM_000497.4(CYP11B1):c.799G>A (p.Gly267Ser) rs1421641874 0.00001
NM_000497.4(CYP11B1):c.802G>A (p.Asp268Asn) rs748180875 0.00001
NM_000497.4(CYP11B1):c.835G>A (p.Ala279Thr) rs751047685 0.00001
NM_000497.4(CYP11B1):c.948G>C (p.Val316=) rs778295450 0.00001
NM_000497.4(CYP11B1):c.1015_1016delinsAT (p.Ala339Ile) rs193922535
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.4(CYP11B1):c.1150C>T (p.Arg384Ter)
NM_000497.4(CYP11B1):c.1181del (p.Asn394fs) rs1256580853
NM_000497.4(CYP11B1):c.1205T>C (p.Leu402Ser) rs886062738
NM_000497.4(CYP11B1):c.1266C>T (p.Arg422=) rs4998902
NM_000497.4(CYP11B1):c.1280G>A (p.Arg427His) rs754432887
NM_000497.4(CYP11B1):c.1343G>C (p.Arg448Pro) rs28934586
NM_000497.4(CYP11B1):c.1358G>A (p.Arg453Gln) rs1447069098
NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs) rs2130266157
NM_000497.4(CYP11B1):c.1398+4A>G rs1586557065
NM_000497.4(CYP11B1):c.1399-14G>A rs5295
NM_000497.4(CYP11B1):c.1488C>T (p.Leu496=) rs776766470
NM_000497.4(CYP11B1):c.450G>A (p.Ser150=) rs778556211
NM_000497.4(CYP11B1):c.517AAG[2] (p.Lys175del) rs535861895
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.617G>T (p.Gly206Val) rs1255308813
NM_000497.4(CYP11B1):c.632T>C (p.Leu211Pro) rs368125568
NM_000497.4(CYP11B1):c.645C>T (p.Ser215=) rs199525592
NM_000497.4(CYP11B1):c.726del (p.Ser243fs) rs1327055239
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.766C>T (p.His256Tyr) rs1816963218
NM_000497.4(CYP11B1):c.799+17G>A rs61751156
NM_000497.4(CYP11B1):c.899C>G (p.Ser300Trp) rs202091168
NM_000497.4(CYP11B1):c.912C>G (p.Ile304Met) rs751843934
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met) rs104894061
NM_000497.4(CYP11B1):c.954+9G>C rs6411

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