ClinVar Miner

List of variants studied for adrenogenital syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_000497.4(CYP11B1):c.1098T>G (p.Arg366=) rs61752769 0.02016
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_004285.4(H6PD):c.1053C>T (p.Gly351=) rs34448374 0.00319
NM_000497.4(CYP11B1):c.988C>T (p.Leu330=) rs61752765 0.00216
NM_004285.4(H6PD):c.1342G>A (p.Ala448Thr) rs34580447 0.00150
NM_000176.3(NR3C1):c.2182-9C>G rs72542757 0.00121
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_000497.4(CYP11B1):c.456C>G (p.Asn152Lys) rs61751149 0.00112
NM_000500.9(CYP21A2):c.803C>T (p.Pro268Leu) rs61732108 0.00090
NM_000497.4(CYP11B1):c.459T>C (p.Ala153=) rs61751150 0.00079
NM_000500.9(CYP21A2):c.1306C>T (p.Arg436Cys) rs767333157 0.00075
NM_000176.3(NR3C1):c.1242A>G (p.Thr414=) rs67902340 0.00061
NM_000176.3(NR3C1):c.2250C>T (p.Pro750=) rs67300719 0.00061
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251 0.00055
NM_000497.4(CYP11B1):c.29G>A (p.Cys10Tyr) rs6405 0.00049
NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr) rs75429891 0.00042
NM_000497.4(CYP11B1):c.294G>A (p.Glu98=) rs143211108 0.00034
NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter) rs146124466 0.00032
NM_000102.4(CYP17A1):c.1458C>T (p.Ile486=) rs147557447 0.00023
NM_000497.4(CYP11B1):c.1015G>A (p.Ala339Thr) rs193922534 0.00023
NM_000500.9(CYP21A2):c.40G>T (p.Ala14Ser) rs764636694 0.00023
NM_000198.4(HSD3B2):c.124T>C (p.Leu42=) rs370732845 0.00016
NM_000198.4(HSD3B2):c.631C>T (p.Leu211=) rs143038843 0.00016
NM_001395413.1(POR):c.1208G>A (p.Arg403His) rs72557929 0.00016
NM_000497.4(CYP11B1):c.89G>A (p.Arg30Gln) rs201103987 0.00014
NM_000497.4(CYP11B1):c.395+10G>A rs768465089 0.00013
NM_000198.4(HSD3B2):c.681C>T (p.Asn227=) rs587675471 0.00011
NM_000349.3(STAR):c.815G>A (p.Arg272His) rs540090187 0.00010
NM_000102.4(CYP17A1):c.-15C>T rs140012815 0.00009
NM_000102.4(CYP17A1):c.32C>T (p.Thr11Ile) rs72559703 0.00009
NM_000349.3(STAR):c.759G>A (p.Lys253=) rs146000965 0.00009
NM_000102.4(CYP17A1):c.1194G>A (p.Ala398=) rs201222065 0.00008
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu) rs193922538 0.00008
NM_000497.4(CYP11B1):c.538G>A (p.Ala180Thr) rs140123041 0.00008
NM_000349.3(STAR):c.64+1G>T rs765968701 0.00007
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409 0.00007
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val) rs770199817 0.00007
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp) rs104894138 0.00006
NM_000349.3(STAR):c.738C>T (p.Asp246=) rs758031518 0.00006
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_001395413.1(POR):c.1465G>A (p.Val489Met) rs377451454 0.00006
NM_000102.4(CYP17A1):c.200G>A (p.Arg67His) rs376074317 0.00005
NM_000102.4(CYP17A1):c.628A>G (p.Ser210Gly) rs142435666 0.00005
NM_000198.4(HSD3B2):c.244G>A (p.Ala82Thr) rs757033996 0.00005
NM_000349.3(STAR):c.402T>C (p.Tyr134=) rs144881901 0.00005
NM_000349.3(STAR):c.563G>A (p.Arg188His) rs61736315 0.00005
NM_000349.3(STAR):c.772C>T (p.Gln258Ter) rs104894085 0.00005
NM_000497.4(CYP11B1):c.157C>T (p.Leu53=) rs61751135 0.00005
NM_000497.4(CYP11B1):c.457G>A (p.Ala153Thr) rs200151403 0.00005
NM_001395413.1(POR):c.1361G>A (p.Arg454His) rs28931608 0.00005
NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg) rs762479018 0.00004
NM_000349.3(STAR):c.488A>T (p.Asp163Val) rs201579617 0.00004
NM_000349.3(STAR):c.64+7G>C rs769781083 0.00004
NM_000349.3(STAR):c.661G>A (p.Gly221Ser) rs139081695 0.00004
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.537C>T (p.Asn179=) rs779461311 0.00004
NM_000497.4(CYP11B1):c.561C>T (p.Asp187=) rs772530391 0.00004
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met) rs104894068 0.00004
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser) rs72552758 0.00004
NM_001395413.1(POR):c.311G>A (p.Arg104His) rs782776557 0.00004
NM_001395413.1(POR):c.723-2A>T rs782343026 0.00004
NM_000102.4(CYP17A1):c.660G>A (p.Trp220Ter) rs879802265 0.00003
NM_000102.4(CYP17A1):c.831T>C (p.Asn277=) rs1043151688 0.00003
NM_000349.3(STAR):c.562C>T (p.Arg188Cys) rs104894090 0.00003
NM_000349.3(STAR):c.824T>C (p.Leu275Pro) rs762245736 0.00003
NM_000497.4(CYP11B1):c.222A>G (p.Glu74=) rs200096159 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_000500.9(CYP21A2):c.143A>G (p.Tyr48Cys) rs566306310 0.00003
NM_000500.9(CYP21A2):c.738+75C>T rs1463196531 0.00003
NM_001395413.1(POR):c.205T>C (p.Phe69Leu) rs782107314 0.00003
NM_000102.4(CYP17A1):c.1226C>G (p.Pro409Arg) rs367833709 0.00002
NM_000102.4(CYP17A1):c.654C>T (p.Val218=) rs375350911 0.00002
NM_000198.4(HSD3B2):c.1084C>T (p.Arg362Trp) rs199919404 0.00002
NM_000198.4(HSD3B2):c.15C>A (p.Cys5Ter) rs766474996 0.00002
NM_000198.4(HSD3B2):c.258T>C (p.Asp86=) rs996323669 0.00002
NM_000198.4(HSD3B2):c.867del (p.Met290fs) rs767167623 0.00002
NM_000349.3(STAR):c.731G>A (p.Ser244Asn) rs1331812230 0.00002
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_000102.4(CYP17A1):c.1040G>A (p.Arg347His) rs61754278 0.00001
NM_000102.4(CYP17A1):c.1233G>A (p.Gln411=) rs755050448 0.00001
NM_000102.4(CYP17A1):c.235C>G (p.His79Asp) rs370973897 0.00001
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro) rs104894135 0.00001
NM_000102.4(CYP17A1):c.318C>T (p.Ser106=) rs766679884 0.00001
NM_000102.4(CYP17A1):c.3G>A (p.Met1Ile) rs61754262 0.00001
NM_000102.4(CYP17A1):c.741T>C (p.Leu247=) rs778591928 0.00001
NM_000176.3(NR3C1):c.2309A>G (p.Lys770Arg) rs751136795 0.00001
NM_000198.4(HSD3B2):c.1003C>T (p.Arg335Ter) rs148200568 0.00001
NM_000198.4(HSD3B2):c.1012G>A (p.Ala338Thr) rs147383167 0.00001
NM_000198.4(HSD3B2):c.228G>A (p.Ser76=) rs767147330 0.00001
NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu) rs28934880 0.00001
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met) rs80358221 0.00001
NM_000349.3(STAR):c.229C>T (p.Gln77Ter) rs781281145 0.00001
NM_000349.3(STAR):c.559G>A (p.Val187Met) rs104894089 0.00001
NM_000349.3(STAR):c.577C>T (p.Arg193Ter) rs387907235 0.00001
NM_000349.3(STAR):c.64+9T>C rs761733155 0.00001
NM_000349.3(STAR):c.779T>C (p.Leu260Pro) rs551783234 0.00001
NM_000497.4(CYP11B1):c.1038C>T (p.Ala346=) rs776234575 0.00001
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln) rs764598023 0.00001
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser) rs104894069 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.270T>C (p.Cys90=) rs778601992 0.00001
NM_000497.4(CYP11B1):c.396-9C>T rs1324660372 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.835G>A (p.Ala279Thr) rs751047685 0.00001
NM_000497.4(CYP11B1):c.948G>C (p.Val316=) rs778295450 0.00001
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu) rs370645073 0.00001
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys) rs72557954 0.00001
NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del) rs756135168
NM_000102.4(CYP17A1):c.180T>C (p.Tyr60=) rs61754264
NM_000102.4(CYP17A1):c.186C>T (p.Pro62=) rs1844174531
NM_000102.4(CYP17A1):c.1A>G (p.Met1Val) rs1590204913
NM_000102.4(CYP17A1):c.225T>G (p.Ile75Met) rs931528592
NM_000102.4(CYP17A1):c.315G>A (p.Ala105=) rs150698224
NM_000102.4(CYP17A1):c.671T>C (p.Phe224Ser) rs202092158
NM_000102.4(CYP17A1):c.869del (p.Asn290fs) rs766331452
NM_000102.4(CYP17A1):c.985_987delinsAA (p.Tyr329fs) rs1844105842
NM_000198.4(HSD3B2):c.1014G>A (p.Ala338=) rs116342586
NM_000198.4(HSD3B2):c.51G>A (p.Arg17=) rs757957605
NM_000198.4(HSD3B2):c.624T>C (p.Asn208=) rs1040579140
NM_000349.3(STAR):c.157C>G (p.Arg53Gly) rs550388651
NM_000349.3(STAR):c.158G>C (p.Arg53Pro) rs529036391
NM_000349.3(STAR):c.158G>T (p.Arg53Leu) rs529036391
NM_000349.3(STAR):c.178+1G>C rs1554503011
NM_000349.3(STAR):c.201_202del (p.Tyr68fs) rs1563268652
NM_000349.3(STAR):c.544C>T (p.Arg182Cys) rs369232492
NM_000349.3(STAR):c.720G>C (p.Thr240=) rs768179486
NM_000349.3(STAR):c.811del (p.Leu271fs) rs1350908961
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.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.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.26T>C (p.Val9Ala) rs1554653718
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.4(CYP11B1):c.385G>A (p.Val129Met) rs377423817
NM_000497.4(CYP11B1):c.517AAG[2] (p.Lys175del) rs535861895
NM_000497.4(CYP11B1):c.645C>T (p.Ser215=) rs199525592
NM_000497.4(CYP11B1):c.726del (p.Ser243fs) rs1327055239
NM_000497.4(CYP11B1):c.799+17G>A rs61751156
NM_000497.4(CYP11B1):c.899C>G (p.Ser300Trp) rs202091168
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met) rs104894061
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1225C>T (p.Arg409Cys) rs72552757
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_001395413.1(POR):c.1320dup (p.Ile441fs) rs786205875
NM_001395413.1(POR):c.1446_1447inv (p.Gly483Ser)
NM_001395413.1(POR):c.1577C>T (p.Thr526Met) rs782248163

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