ClinVar Miner

List of variants studied for congenital adrenal hyperplasia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 368
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HGVS dbSNP gnomAD frequency
NM_001395413.1(POR):c.1446T>C (p.Ala482=) rs2228104 0.86727
NM_001395413.1(POR):c.1058-13C>G rs4732516 0.84641
NM_000349.3(STAR):c.*1524A>G rs3990403 0.70953
NM_000497.4(CYP11B1):c.*471A>C rs12543598 0.67053
NM_000497.4(CYP11B1):c.*694T>C rs5303 0.65382
NM_000497.4(CYP11B1):c.*1852T>G rs4736312 0.61613
NM_000497.4(CYP11B1):c.*1566G>T rs1134096 0.60736
NM_000497.4(CYP11B1):c.*318A>G rs5299 0.60710
NM_000497.4(CYP11B1):c.*1499C>T rs1134095 0.60702
NM_000497.4(CYP11B1):c.*738G>A rs5304 0.60698
NM_000497.4(CYP11B1):c.*1042A>G rs7003319 0.60695
NM_000497.4(CYP11B1):c.225A>G (p.Leu75=) rs6410 0.52490
NM_000497.4(CYP11B1):c.*516A>G rs5301 0.49013
NM_000941.2(POR):c.-47A>C rs3823884 0.44962
NM_000102.4(CYP17A1):c.195G>T (p.Ser65=) rs6163 0.40112
NM_000102.4(CYP17A1):c.138C>T (p.His46=) rs6162 0.40089
NM_000497.4(CYP11B1):c.246C>T (p.Asp82=) rs5283 0.33818
NM_001395413.1(POR):c.1707G>A (p.Ser569=) rs1057870 0.28425
NM_001395413.1(POR):c.1239+12C>T rs2286822 0.27856
NM_001395413.1(POR):c.1499C>T (p.Ala500Val) rs1057868 0.26722
NM_000198.4(HSD3B2):c.*276C>T rs1819698 0.24637
NM_001395413.1(POR):c.378A>G (p.Pro126=) rs1135612 0.20982
NM_000198.4(HSD3B2):c.*321C>G rs1361530 0.19080
NM_000497.4(CYP11B1):c.*132T>C rs5297 0.13529
NM_000497.4(CYP11B1):c.*1288A>G rs61752809 0.13519
NM_000497.4(CYP11B1):c.1399-14G>C rs5295 0.12635
NM_000497.4(CYP11B1):c.*1417G>A rs61752812 0.11851
NM_000497.4(CYP11B1):c.873G>A (p.Ala291=) rs34570566 0.08763
NM_001395413.1(POR):c.6A>G (p.Gly2=) rs10262966 0.07713
NM_000497.4(CYP11B1):c.*923G>C rs61752805 0.06064
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.128G>A (p.Arg43Gln) rs4534 0.03864
NM_000497.4(CYP11B1):c.1086G>C (p.Leu362=) rs6403 0.03563
NM_000349.3(STAR):c.*456C>T rs35045158 0.02530
NM_000198.4(HSD3B2):c.*202A>G rs9282704 0.02229
NM_000198.4(HSD3B2):c.*96C>G rs9282703 0.02228
NM_000497.4(CYP11B1):c.1098T>G (p.Arg366=) rs61752769 0.02016
NM_000198.4(HSD3B2):c.777G>A (p.Thr259=) rs33926546 0.01994
NM_000349.3(STAR):c.*987A>G rs28361934 0.01708
NC_000008.11:g.38150990G>A rs16887226 0.01566
NM_000349.3(STAR):c.153G>A (p.Gln51=) rs72552290 0.01453
NM_000497.4(CYP11B1):c.*1871T>A rs61752818 0.01316
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser) rs35887327 0.01309
NM_000497.4(CYP11B1):c.1353T>C (p.Leu451=) rs5316 0.01232
NM_000497.4(CYP11B1):c.*1076C>T rs61752806 0.01209
NM_000497.4(CYP11B1):c.*193A>T rs61752798 0.01010
NM_000497.4(CYP11B1):c.*1512G>A rs61752814 0.00880
NM_000497.4(CYP11B1):c.*1258G>A rs61752808 0.00878
NM_001395413.1(POR):c.*207C>G rs41302348 0.00808
NM_000497.4(CYP11B1):c.*468C>T rs114832894 0.00774
NM_001395413.1(POR):c.*51C>T rs41302345 0.00770
NM_000497.4(CYP11B1):c.239+13C>A rs6402 0.00753
NM_000198.3(HSD3B2):c.-145G>A rs35226381 0.00744
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=) rs9657022 0.00726
NM_001395413.1(POR):c.360C>T (p.Ala120=) rs41299490 0.00719
NC_000007.14:g.75986867T>G rs41302351 0.00710
NM_001395413.1(POR):c.78G>A (p.Thr26=) rs41295381 0.00681
NM_000497.4(CYP11B1):c.*1138del rs148110533 0.00599
NM_001395413.1(POR):c.1889+3G>A rs41301439 0.00568
NM_000102.4(CYP17A1):c.-14G>A rs17115125 0.00562
NM_001395413.1(POR):c.*240C>T rs13921 0.00471
NM_001395413.1(POR):c.508-4G>A rs41299496 0.00462
NM_000198.4(HSD3B2):c.501G>A (p.Ala167=) rs6207 0.00387
NM_000198.4(HSD3B2):c.220G>A (p.Asp74Asn) rs4986954 0.00385
NM_001395413.1(POR):c.*63C>T rs72557961 0.00342
NM_000497.4(CYP11B1):c.825T>C (p.Tyr275=) rs5290 0.00338
NM_000349.3(STAR):c.*395G>A rs115807877 0.00320
NM_001395413.1(POR):c.674C>T (p.Pro225Leu) rs17853284 0.00271
NM_000349.3(STAR):c.*1122T>A rs72556520 0.00254
NM_000497.4(CYP11B1):c.1003A>G (p.Asn335Asp) rs61752766 0.00248
NM_000497.4(CYP11B1):c.395+9C>T rs61751140 0.00235
NM_000349.3(STAR):c.*981A>G rs188232971 0.00228
NM_000349.3(STAR):c.*1472C>T rs7833285 0.00203
NM_000349.3(STAR):c.361C>T (p.Arg121Trp) rs34908868 0.00193
NM_000349.3(STAR):c.687G>A (p.Pro229=) rs35852516 0.00180
NM_000349.3(STAR):c.*116T>G rs35462433 0.00179
NM_001395413.1(POR):c.1889+13G>T rs72557956 0.00178
NM_000497.4(CYP11B1):c.823T>C (p.Tyr275His) rs141368413 0.00177
NM_000349.3(STAR):c.141G>A (p.Thr47=) rs147318238 0.00173
NM_001395413.1(POR):c.*60C>T rs72557960 0.00173
NM_000941.2(POR):c.-33G>T rs72553977 0.00172
NM_000349.3(STAR):c.*88G>C rs112828857 0.00169
NM_001395413.1(POR):c.-14G>C rs886062438 0.00167
NM_000497.4(CYP11B1):c.1014G>A (p.Gln338=) rs151335623 0.00158
NM_001395413.1(POR):c.975C>T (p.Ala325=) rs72557941 0.00136
NM_000349.3(STAR):c.504C>T (p.His168=) rs147138315 0.00134
NM_000497.4(CYP11B1):c.*634G>A rs1137481 0.00126
NM_000349.3(STAR):c.650+13G>T rs377756089 0.00123
NM_000349.3(STAR):c.*230A>G rs34575008 0.00120
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys) rs61754263 0.00116
NM_000349.3(STAR):c.466-5G>A rs375678713 0.00111
NM_001395413.1(POR):c.1882G>A (p.Val628Ile) rs145782750 0.00106
NM_000198.4(HSD3B2):c.*397T>A rs753468192 0.00103
NM_000349.3(STAR):c.481G>A (p.Gly161Arg) rs188044385 0.00103
NM_000497.4(CYP11B1):c.743C>T (p.Thr248Ile) rs34620645 0.00095
NM_001395413.1(POR):c.308A>G (p.His103Arg) rs200622912 0.00093
NM_001395413.1(POR):c.678C>T (p.Ala226=) rs72557906 0.00089
NM_001395413.1(POR):c.*372G>A rs2286824 0.00088
NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val) rs35486059 0.00087
NM_000198.4(HSD3B2):c.621C>T (p.Asn207=) rs143758913 0.00087
NM_000349.3(STAR):c.*1557A>G rs774615544 0.00074
NM_000349.3(STAR):c.*880C>T rs548810270 0.00067
NM_000349.3(STAR):c.*818G>A rs558498679 0.00066
NM_001395413.1(POR):c.*76G>A rs55909219 0.00062
NM_001395413.1(POR):c.1806+12G>A rs371432868 0.00058
NM_000349.3(STAR):c.179-14G>A rs117578796 0.00057
NM_000102.4(CYP17A1):c.*65C>A rs537220295 0.00056
NM_001395413.1(POR):c.390C>T (p.Asn130=) rs181837747 0.00049
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=) rs34412477 0.00047
NM_001395413.1(POR):c.633-5C>G rs72555509 0.00047
NM_000497.4(CYP11B1):c.1042G>A (p.Ala348Thr) rs6407 0.00044
NM_001395413.1(POR):c.889G>A (p.Glu297Lys) rs11540674 0.00044
NM_000349.3(STAR):c.306+10G>A rs200480072 0.00043
NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr) rs75429891 0.00042
NM_000102.3(CYP17A1):c.-166G>C rs58519757 0.00041
NM_001395413.1(POR):c.1227C>T (p.Ser409=) rs41301424 0.00041
NM_000497.4(CYP11B1):c.*614C>T rs772616356 0.00040
NM_000102.4(CYP17A1):c.753+13G>A rs201956379 0.00036
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=) rs150892928 0.00035
NM_000497.4(CYP11B1):c.554C>G (p.Thr185Ser) rs566921201 0.00035
NM_001395413.1(POR):c.1095G>A (p.Thr365=) rs150414675 0.00034
NM_000349.3(STAR):c.*930C>T rs915400542 0.00033
NM_000349.3(STAR):c.*93C>T rs776003335 0.00033
NM_000497.4(CYP11B1):c.*718T>G rs189479208 0.00032
NM_000102.4(CYP17A1):c.298-11G>C rs188885755 0.00031
NM_000349.3(STAR):c.-70G>T rs370257148 0.00031
NM_000349.3(STAR):c.*187T>C rs779430429 0.00029
NM_000497.4(CYP11B1):c.930A>G (p.Glu310=) rs148707144 0.00029
NM_001395413.1(POR):c.1512C>T (p.Gly504=) rs370823127 0.00029
NM_000349.3(STAR):c.*1543C>A rs748527738 0.00028
NM_000349.3(STAR):c.*1513C>G rs963043269 0.00024
NM_000497.4(CYP11B1):c.*613A>G rs1137480 0.00024
NM_001395413.1(POR):c.*179G>A rs184275273 0.00024
NM_001395413.1(POR):c.*273T>C rs782378740 0.00024
NM_001395413.1(POR):c.1806+8G>A rs72557952 0.00024
NM_001395413.1(POR):c.1482G>T (p.Leu494=) rs370326231 0.00023
NM_001395413.1(POR):c.*218C>T rs539326245 0.00021
NM_001395413.1(POR):c.735C>T (p.Tyr245=) rs201786397 0.00021
NM_001395413.1(POR):c.*178C>T rs535637875 0.00019
NM_000102.4(CYP17A1):c.988G>A (p.Glu330Lys) rs142037395 0.00018
NM_000349.3(STAR):c.*698C>A rs558290486 0.00018
NM_000349.3(STAR):c.*699C>G rs540152389 0.00018
NM_000941.2(POR):c.-80A>C rs886062437 0.00018
NM_001395413.1(POR):c.180-10T>C rs374111607 0.00017
NM_000497.4(CYP11B1):c.375C>G (p.His125Gln) rs201137503 0.00016
NM_001395413.1(POR):c.1208G>A (p.Arg403His) rs72557929 0.00016
NM_001395413.1(POR):c.506C>T (p.Ala169Val) rs374967948 0.00016
NM_000349.3(STAR):c.178+7G>A rs376633284 0.00015
NM_000497.4(CYP11B1):c.*345C>A rs368195405 0.00015
NM_000497.4(CYP11B1):c.*737C>T rs748684062 0.00015
NM_000198.4(HSD3B2):c.-106T>C rs587688647 0.00014
NM_000497.4(CYP11B1):c.*1264A>C rs547356106 0.00014
NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu) rs142484434 0.00014
NM_000198.4(HSD3B2):c.308-8G>A rs371712928 0.00013
NM_000198.4(HSD3B2):c.423C>T (p.His141=) rs751470493 0.00011
NM_000349.2(STAR):c.-255G>T rs567801443 0.00011
NM_000497.4(CYP11B1):c.104T>C (p.Val35Ala) rs201951316 0.00011
NM_001395413.1(POR):c.1755C>T (p.Asp585=) rs72557949 0.00011
NM_001395413.1(POR):c.1867G>A (p.Gly623Ser) rs369181144 0.00011
NM_001395413.1(POR):c.710G>A (p.Gly237Asp) rs782746344 0.00011
NM_000497.4(CYP11B1):c.*1209C>T rs757505651 0.00010
NM_001395413.1(POR):c.1191G>A (p.Ser397=) rs372401863 0.00010
NM_001395413.1(POR):c.1578G>A (p.Thr526=) rs371795413 0.00010
NM_000102.4(CYP17A1):c.-15C>T rs140012815 0.00009
NM_000102.4(CYP17A1):c.100C>T (p.Leu34=) rs145117545 0.00009
NM_000198.4(HSD3B2):c.*46C>T rs371081728 0.00009
NM_000349.3(STAR):c.*913C>T rs551135472 0.00009
NM_000349.3(STAR):c.108C>T (p.Asn36=) rs373945555 0.00009
NM_000497.4(CYP11B1):c.*946G>A rs1312537684 0.00009
NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp) rs374517238 0.00009
NM_001395413.1(POR):c.1806+7C>T rs72557951 0.00009
NM_001395413.1(POR):c.357+14G>A rs372941705 0.00009
NM_000102.4(CYP17A1):c.987C>T (p.Tyr329=) rs374769118 0.00008
NM_000349.3(STAR):c.*817C>T rs886062901 0.00008
NM_001395413.1(POR):c.1944T>G (p.Ala648=) rs370865328 0.00008
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=) rs755461071 0.00007
NM_000349.3(STAR):c.*897C>T rs1216495200 0.00007
NM_000497.4(CYP11B1):c.1144C>T (p.Leu382=) rs5293 0.00007
NM_000102.4(CYP17A1):c.-33G>A rs754158354 0.00006
NM_000102.4(CYP17A1):c.1269C>G (p.Thr423=) rs554217514 0.00006
NM_000198.4(HSD3B2):c.*177C>T rs886045199 0.00006
NM_000497.4(CYP11B1):c.*857T>C rs370725779 0.00006
NM_000497.4(CYP11B1):c.541C>T (p.Arg181Trp) rs373856010 0.00006
NM_001395413.1(POR):c.*33C>T rs200310098 0.00006
NM_001395413.1(POR):c.229-5C>T rs782035827 0.00006
NM_001395413.1(POR):c.420C>T (p.Tyr140=) rs368468521 0.00006
NM_001395413.1(POR):c.504C>T (p.Phe168=) rs372715546 0.00006
NM_001395413.1(POR):c.991G>A (p.Val331Ile) rs562241770 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.13T>A (p.Cys5Ser) rs376207606 0.00005
NM_000497.4(CYP11B1):c.*670A>C rs879537131 0.00005
NM_001395413.1(POR):c.*21C>A rs782245884 0.00005
NM_001395413.1(POR):c.888C>T (p.Thr296=) rs180683888 0.00005
NM_001395413.1(POR):c.990C>T (p.Leu330=) rs376830846 0.00005
NM_000349.3(STAR):c.*1473G>A rs879150926 0.00004
NM_000349.3(STAR):c.*688C>T rs1374700700 0.00004
NM_000349.3(STAR):c.178+9T>C rs777624416 0.00004
NM_000497.4(CYP11B1):c.*1435T>C rs551125657 0.00004
NM_000497.4(CYP11B1):c.1465T>C (p.Leu489=) rs373736765 0.00004
NM_000497.4(CYP11B1):c.218A>G (p.Gln73Arg) rs371662064 0.00004
NM_000497.4(CYP11B1):c.736C>T (p.Arg246Cys) rs777913851 0.00004
NM_000497.4(CYP11B1):c.957G>A (p.Thr319=) rs762599130 0.00004
NM_001395413.1(POR):c.1389+15T>A rs782664345 0.00004
NM_001395413.1(POR):c.1492G>A (p.Glu498Lys) rs782697310 0.00004
NM_001395413.1(POR):c.149A>T (p.Glu50Val) rs376145249 0.00004
NM_001395413.1(POR):c.1510G>A (p.Gly504Ser) rs565343242 0.00004
NM_001395413.1(POR):c.1555C>T (p.Arg519Cys) rs782533830 0.00004
NM_001395413.1(POR):c.1661-4G>A rs372733766 0.00004
NM_001395413.1(POR):c.1693G>A (p.Gly565Ser) rs779082897 0.00004
NM_001395413.1(POR):c.1939G>A (p.Val647Met) rs148175064 0.00004
NM_001395413.1(POR):c.311G>A (p.Arg104His) rs782776557 0.00004
NM_001395413.1(POR):c.938+10G>A rs781980999 0.00004
NM_000102.4(CYP17A1):c.1019G>A (p.Arg340His) rs765987481 0.00003
NM_000198.4(HSD3B2):c.*121C>A rs886045198 0.00003
NM_000349.3(STAR):c.312T>C (p.Asn104=) rs200934871 0.00003
NM_000497.4(CYP11B1):c.*1358T>C rs886062734 0.00003
NM_000497.4(CYP11B1):c.244G>A (p.Asp82Asn) rs762347776 0.00003
NM_000497.4(CYP11B1):c.395+6C>T rs553707049 0.00003
NM_000497.4(CYP11B1):c.595+14G>A rs1208266252 0.00003
NM_001395413.1(POR):c.1176C>T (p.Tyr392=) rs782192787 0.00003
NM_001395413.1(POR):c.1651C>T (p.Arg551Ter) rs782336856 0.00003
NM_001395413.1(POR):c.1660+5G>C rs782407937 0.00003
NM_001395413.1(POR):c.1750A>G (p.Arg584Gly) rs781795917 0.00003
NM_001395413.1(POR):c.315C>T (p.Tyr105=) rs782376709 0.00003
NM_001395413.1(POR):c.316G>A (p.Gly106Arg) rs372623440 0.00003
NM_001395413.1(POR):c.560A>G (p.Tyr187Cys) rs782681272 0.00003
NM_000102.4(CYP17A1):c.847G>C (p.Asp283His) rs746480412 0.00002
NM_000198.4(HSD3B2):c.1084C>T (p.Arg362Trp) rs199919404 0.00002
NM_000198.4(HSD3B2):c.625G>A (p.Gly209Arg) rs587669956 0.00002
NM_000349.3(STAR):c.411C>T (p.Leu137=) rs368559257 0.00002
NM_000349.3(STAR):c.731G>A (p.Ser244Asn) rs1331812230 0.00002
NM_000497.4(CYP11B1):c.*1622C>T rs543935807 0.00002
NM_001395413.1(POR):c.-14+9T>C rs1401114101 0.00002
NM_001395413.1(POR):c.1143G>A (p.Pro381=) rs375444057 0.00002
NM_001395413.1(POR):c.1354del (p.Gln452fs) rs781805159 0.00002
NM_001395413.1(POR):c.1389+10G>A rs782345141 0.00002
NM_001395413.1(POR):c.150A>C (p.Glu50Asp) rs370701548 0.00002
NM_001395413.1(POR):c.1926C>T (p.Thr642=) rs557596726 0.00002
NM_001395413.1(POR):c.460G>A (p.Asp154Asn) rs782422122 0.00002
NM_001395413.1(POR):c.938G>C (p.Arg313Thr) rs782572970 0.00002
NM_000102.4(CYP17A1):c.*130C>T rs886046665 0.00001
NM_000198.4(HSD3B2):c.*411T>C rs1651940686 0.00001
NM_000198.4(HSD3B2):c.1012G>A (p.Ala338Thr) rs147383167 0.00001
NM_000198.4(HSD3B2):c.308-14C>A rs750286630 0.00001
NM_000198.4(HSD3B2):c.308-9C>T rs375047799 0.00001
NM_000198.4(HSD3B2):c.510G>C (p.Gly170=) rs886045197 0.00001
NM_000198.4(HSD3B2):c.659T>C (p.Val220Ala) rs929360018 0.00001
NM_000349.2(STAR):c.-152G>A rs1196346446 0.00001
NM_000349.3(STAR):c.*550A>C rs1236012022 0.00001
NM_000497.4(CYP11B1):c.*1313C>T rs973876982 0.00001
NM_000497.4(CYP11B1):c.*1476G>C rs1325854085 0.00001
NM_000497.4(CYP11B1):c.*245C>G rs538608688 0.00001
NM_000497.4(CYP11B1):c.*495C>T rs886062736 0.00001
NM_000497.4(CYP11B1):c.*607C>T rs1816856226 0.00001
NM_000497.4(CYP11B1):c.*901G>A rs748103274 0.00001
NM_000497.4(CYP11B1):c.107T>G (p.Leu36Arg) rs755448048 0.00001
NM_000497.4(CYP11B1):c.1090T>C (p.Leu364=) rs754660381 0.00001
NM_000497.4(CYP11B1):c.1200+11C>T rs753651666 0.00001
NM_000497.4(CYP11B1):c.206A>G (p.His69Arg) rs747287245 0.00001
NM_000497.4(CYP11B1):c.263T>C (p.Met88Thr) rs1817062027 0.00001
NM_000497.4(CYP11B1):c.346T>G (p.Trp116Gly) rs772733691 0.00001
NM_000497.4(CYP11B1):c.413G>A (p.Arg138His) rs193922540 0.00001
NM_000497.4(CYP11B1):c.802G>A (p.Asp268Asn) rs748180875 0.00001
NM_001395413.1(POR):c.1033G>A (p.Val345Ile) rs373128937 0.00001
NM_001395413.1(POR):c.103G>A (p.Val35Met) rs782469484 0.00001
NM_001395413.1(POR):c.1152C>T (p.Asn384=) rs1554558784 0.00001
NM_001395413.1(POR):c.1256G>T (p.Trp419Leu) rs1419019194 0.00001
NM_001395413.1(POR):c.1375G>A (p.Ala459Thr) rs72557936 0.00001
NM_001395413.1(POR):c.1585A>G (p.Ile529Val) rs886062442 0.00001
NM_001395413.1(POR):c.160T>C (p.Phe54Leu) rs782711779 0.00001
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu) rs370645073 0.00001
NM_001395413.1(POR):c.821+15C>T rs540000393 0.00001
NM_001395413.1(POR):c.821C>T (p.Pro274Leu) rs369749344 0.00001
NM_001395413.1(POR):c.938+3A>G rs782232516 0.00001
NC_000007.14:g.75915138G>C rs535395573
NM_000102.4(CYP17A1):c.*165dup rs45455494
NM_000102.4(CYP17A1):c.*67C>A rs886046666
NM_000102.4(CYP17A1):c.-30dup rs886046667
NM_000102.4(CYP17A1):c.-34T>C rs743572
NM_000102.4(CYP17A1):c.1134C>T (p.Asp378=) rs772903405
NM_000102.4(CYP17A1):c.1363A>G (p.Ile455Val) rs138630127
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del) rs756135168
NM_000102.4(CYP17A1):c.1488C>T (p.Arg496=) rs539435111
NM_000102.4(CYP17A1):c.412G>A (p.Gly138Ser) rs1485258085
NM_000102.4(CYP17A1):c.671T>C (p.Phe224Ser) rs202092158
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=) rs781770416
NM_000198.4(HSD3B2):c.333T>G (p.Cys111Trp) rs886045196
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=) rs114527791
NM_000198.4(HSD3B2):c.789C>G (p.Ser263Arg) rs771688849
NM_000349.2(STAR):c.-249C>A rs886062906
NM_000349.3(STAR):c.*1384del rs886062898
NM_000349.3(STAR):c.*348C>T rs886062904
NM_000349.3(STAR):c.*556A>G rs886062903
NM_000349.3(STAR):c.*768G>A rs1802503995
NM_000349.3(STAR):c.*796A>G rs886062902
NM_000349.3(STAR):c.*948del rs886062900
NM_000349.3(STAR):c.*965_*967dup rs11326306
NM_000349.3(STAR):c.*967del rs11326306
NM_000349.3(STAR):c.-16C>T rs779983468
NM_000349.3(STAR):c.120G>A (p.Leu40=) rs138786388
NM_000349.3(STAR):c.125dup (p.Thr44fs) rs750549499
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.484A>C (p.Lys162Gln) rs886062905
NM_000497.4(CYP11B1):c.*1012A>C rs1816847260
NM_000497.4(CYP11B1):c.*1020C>T rs5017238
NM_000497.4(CYP11B1):c.*1164G>A rs886062735
NM_000497.4(CYP11B1):c.*1253G>T rs1816842907
NM_000497.4(CYP11B1):c.*1296A>G rs1816841780
NM_000497.4(CYP11B1):c.*1511C>T rs1033272486
NM_000497.4(CYP11B1):c.*1550C>T rs1425377435
NM_000497.4(CYP11B1):c.*1555del rs548944247
NM_000497.4(CYP11B1):c.*1590G>C rs886062733
NM_000497.4(CYP11B1):c.*1623G>C rs997960869
NM_000497.4(CYP11B1):c.*1770A>T rs369448045
NM_000497.4(CYP11B1):c.*1929A>C rs201626683
NM_000497.4(CYP11B1):c.*193A>C rs61752798
NM_000497.4(CYP11B1):c.*1944G>A rs1816825330
NM_000497.4(CYP11B1):c.*1979G>A rs1039347990
NM_000497.4(CYP11B1):c.*244C>T rs1816862781
NM_000497.4(CYP11B1):c.*317T>C rs567623158
NM_000497.4(CYP11B1):c.*390A>G rs558749828
NM_000497.4(CYP11B1):c.*400C>T rs61752801
NM_000497.4(CYP11B1):c.*485C>G rs886062737
NM_000497.4(CYP11B1):c.*516A>T rs5301
NM_000497.4(CYP11B1):c.*596C>A rs1816856315
NM_000497.4(CYP11B1):c.*848C>T rs149520110
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.4(CYP11B1):c.1205T>C (p.Leu402Ser) rs886062738
NM_000497.4(CYP11B1):c.1488C>T (p.Leu496=) rs776766470
NM_000497.4(CYP11B1):c.334A>C (p.Ser112Arg) rs770400476
NM_000497.4(CYP11B1):c.385G>A (p.Val129Met) rs377423817
NM_000497.4(CYP11B1):c.450G>A (p.Ser150=) rs778556211
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.632T>C (p.Leu211Pro) rs368125568
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.912C>G (p.Ile304Met) rs751843934
NM_000497.4(CYP11B1):c.954+9G>C rs6411
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_001367562.2(POR):c.*378G>A rs1554559685
NM_001395413.1(POR):c.*137G>A rs886062443
NM_001395413.1(POR):c.*219G>T rs557751714
NM_001395413.1(POR):c.*291G>A rs886062445
NM_001395413.1(POR):c.*306G>A rs17685
NM_001395413.1(POR):c.*40T>G rs1789485173
NM_001395413.1(POR):c.-14+8C>G rs1040331805
NM_001395413.1(POR):c.-14G>A rs886062438
NM_001395413.1(POR):c.-14G>T rs886062438
NM_001395413.1(POR):c.1092T>A (p.Pro364=) rs782729580
NM_001395413.1(POR):c.1182G>A (p.Ser394=) rs72557928
NM_001395413.1(POR):c.1236C>T (p.Gly412=) rs1220545486
NM_001395413.1(POR):c.1405G>C (p.Val469Leu) rs72557946
NM_001395413.1(POR):c.1600G>C (p.Gly534Arg) rs569673150
NM_001395413.1(POR):c.1721T>C (p.Leu574Pro) rs56256515
NM_001395413.1(POR):c.226A>G (p.Thr76Ala) rs1788485288
NM_001395413.1(POR):c.481G>A (p.Val161Met) rs200112691
NM_001395413.1(POR):c.552G>T (p.Met184Ile) rs1554557749
NM_001395413.1(POR):c.562G>A (p.Val188Met) rs201513102
NM_001395413.1(POR):c.562G>C (p.Val188Leu) rs201513102
NM_001395413.1(POR):c.615G>A (p.Leu205=) rs782714107
NM_001395413.1(POR):c.646T>G (p.Phe216Val) rs1789043381
NM_001395413.1(POR):c.939-14A>C rs886062441

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