ClinVar Miner

List of variants studied for adrenogenital syndrome

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 802
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HGVS dbSNP
-4C-T, PRO105LEU, AND PRO453SER
CYP11B1, 2-BP INS
CYP11B1, 954G-A
CYP11B1, CYP11B1/CYP11B2 CHIMERA
CYP21A2, 1-BP INS, 1003A
CYP21A2, 30-KB DEL
CYP21A2, ARG339HIS AND PRO453SER
CYP21A2, GENE CONVERSION CYP21 FROM CYP21P
CYP21A2, GLU380ASP
CYP21A2, GLY424SER
CYP21A2, IVS7DS, G-C, +1
NC_000007.14:g.75915138G>C
NC_000008.11:g.38150970C>T
NC_000008.11:g.38150990G>A
NM_000102.3(CYP17A1):c.-166G>C rs58519757
NM_000102.4(CYP17A1):c.*130C>T rs886046665
NM_000102.4(CYP17A1):c.*165dup rs45455494
NM_000102.4(CYP17A1):c.*65C>A rs537220295
NM_000102.4(CYP17A1):c.*67C>A rs886046666
NM_000102.4(CYP17A1):c.-14G>A rs17115125
NM_000102.4(CYP17A1):c.-15C>T rs140012815
NM_000102.4(CYP17A1):c.-30dup rs886046667
NM_000102.4(CYP17A1):c.-33G>A
NM_000102.4(CYP17A1):c.-34T>C rs743572
NM_000102.4(CYP17A1):c.100C>T (p.Leu34=)
NM_000102.4(CYP17A1):c.1019G>A (p.Arg340His)
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His) rs61754278
NM_000102.4(CYP17A1):c.1134C>T (p.Asp378=)
NM_000102.4(CYP17A1):c.1162A>T (p.Lys388Ter) rs1060499582
NM_000102.4(CYP17A1):c.1241C>T (p.Pro414Leu) rs1554879846
NM_000102.4(CYP17A1):c.1269C>G (p.Thr423=) rs554217514
NM_000102.4(CYP17A1):c.1363A>G (p.Ile455Val) rs138630127
NM_000102.4(CYP17A1):c.138C>T (p.His46=) rs6162
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=)
NM_000102.4(CYP17A1):c.195G>T (p.Ser65=) rs6163
NM_000102.4(CYP17A1):c.200G>A (p.Arg67His)
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp) rs104894138
NM_000102.4(CYP17A1):c.297+2T>C rs764723654
NM_000102.4(CYP17A1):c.298-11G>C rs188885755
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro) rs104894135
NM_000102.4(CYP17A1):c.412G>A (p.Gly138Ser)
NM_000102.4(CYP17A1):c.628A>G (p.Ser210Gly) rs142435666
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys) rs61754263
NM_000102.4(CYP17A1):c.671T>C (p.Phe224Ser)
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter) rs104894136
NM_000102.4(CYP17A1):c.753+13G>A
NM_000102.4(CYP17A1):c.847G>C (p.Asp283His) rs746480412
NM_000102.4(CYP17A1):c.987C>T (p.Tyr329=) rs374769118
NM_000102.4(CYP17A1):c.988G>A (p.Glu330Lys)
NM_000176.3(NR3C1):c.*101dup rs776865643
NM_000176.3(NR3C1):c.*1055T>A rs886060051
NM_000176.3(NR3C1):c.*1087_*1088dup rs886060050
NM_000176.3(NR3C1):c.*1176C>T rs61753504
NM_000176.3(NR3C1):c.*1220_*1225dup rs72542761
NM_000176.3(NR3C1):c.*1241C>T rs768128384
NM_000176.3(NR3C1):c.*1245_*1248dup rs10482710
NM_000176.3(NR3C1):c.*134G>A
NM_000176.3(NR3C1):c.*1407A>G rs886060049
NM_000176.3(NR3C1):c.*1464A>G
NM_000176.3(NR3C1):c.*1466T>C
NM_000176.3(NR3C1):c.*1492A>G
NM_000176.3(NR3C1):c.*149T>C rs886060059
NM_000176.3(NR3C1):c.*1509C>A rs886060048
NM_000176.3(NR3C1):c.*1589A>G rs886060047
NM_000176.3(NR3C1):c.*1628A>G rs372713535
NM_000176.3(NR3C1):c.*1825G>C
NM_000176.3(NR3C1):c.*1880A>G
NM_000176.3(NR3C1):c.*1941A>C
NM_000176.3(NR3C1):c.*1957A>G
NM_000176.3(NR3C1):c.*2031C>T rs369162225
NM_000176.3(NR3C1):c.*2042C>T rs13306586
NM_000176.3(NR3C1):c.*2056dup rs886060046
NM_000176.3(NR3C1):c.*2151A>C rs746282402
NM_000176.3(NR3C1):c.*2188A>G rs6193
NM_000176.3(NR3C1):c.*2367C>T
NM_000176.3(NR3C1):c.*2370G>A
NM_000176.3(NR3C1):c.*2521T>A rs886060045
NM_000176.3(NR3C1):c.*2567A>G rs886060044
NM_000176.3(NR3C1):c.*256A>G
NM_000176.3(NR3C1):c.*2601A>T rs886060043
NM_000176.3(NR3C1):c.*2621T>G
NM_000176.3(NR3C1):c.*2873G>A rs886060042
NM_000176.3(NR3C1):c.*2875T>C
NM_000176.3(NR3C1):c.*290A>C rs72542758
NM_000176.3(NR3C1):c.*2928A>G
NM_000176.3(NR3C1):c.*293A>C
NM_000176.3(NR3C1):c.*2947T>G
NM_000176.3(NR3C1):c.*2956G>A
NM_000176.3(NR3C1):c.*3003A>G rs61753509
NM_000176.3(NR3C1):c.*3046G>C rs886060041
NM_000176.3(NR3C1):c.*3076C>T rs72542769
NM_000176.3(NR3C1):c.*3077G>A rs886060040
NM_000176.3(NR3C1):c.*3153C>T rs2301177
NM_000176.3(NR3C1):c.*3259G>A
NM_000176.3(NR3C1):c.*3298G>T rs6191
NM_000176.3(NR3C1):c.*3300G>T rs72542770
NM_000176.3(NR3C1):c.*3319G>C rs886060039
NM_000176.3(NR3C1):c.*3330G>T
NM_000176.3(NR3C1):c.*3378G>A
NM_000176.3(NR3C1):c.*3383T>G
NM_000176.3(NR3C1):c.*3406C>G
NM_000176.3(NR3C1):c.*3431G>C rs886060038
NM_000176.3(NR3C1):c.*3466T>C rs886060037
NM_000176.3(NR3C1):c.*3550G>A rs10482714
NM_000176.3(NR3C1):c.*3580T>C
NM_000176.3(NR3C1):c.*3685C>G
NM_000176.3(NR3C1):c.*36G>A rs761674033
NM_000176.3(NR3C1):c.*3759dup rs772052566
NM_000176.3(NR3C1):c.*3833A>G rs6198
NM_000176.3(NR3C1):c.*3846G>A
NM_000176.3(NR3C1):c.*3868C>T
NM_000176.3(NR3C1):c.*3877C>T
NM_000176.3(NR3C1):c.*3937A>T rs4518436
NM_000176.3(NR3C1):c.*401dup rs886060058
NM_000176.3(NR3C1):c.*409del rs10482707
NM_000176.3(NR3C1):c.*409dup rs10482707
NM_000176.3(NR3C1):c.*534T>C
NM_000176.3(NR3C1):c.*618A>G rs886060056
NM_000176.3(NR3C1):c.*750del rs886060055
NM_000176.3(NR3C1):c.*752A>G rs869125609
NM_000176.3(NR3C1):c.*766_*769dup rs34248080
NM_000176.3(NR3C1):c.*768_*769dup rs34248080
NM_000176.3(NR3C1):c.*769dup rs34248080
NM_000176.3(NR3C1):c.*808T>C
NM_000176.3(NR3C1):c.*834_*837dup rs886060053
NM_000176.3(NR3C1):c.*861_*868del rs547184962
NM_000176.3(NR3C1):c.*905A>T
NM_000176.3(NR3C1):c.*937C>A rs72542760
NM_000176.3(NR3C1):c.*946T>G rs886060052
NM_000176.3(NR3C1):c.*954C>G
NM_000176.3(NR3C1):c.*988T>C
NM_000176.3(NR3C1):c.1018T>G (p.Ser340Ala)
NM_000176.3(NR3C1):c.1039C>G (p.Gln347Glu)
NM_000176.3(NR3C1):c.1088A>G (p.Asn363Ser) rs56149945
NM_000176.3(NR3C1):c.1242A>G (p.Thr414=) rs67902340
NM_000176.3(NR3C1):c.1430G>A (p.Arg477His) rs104893913
NM_000176.3(NR3C1):c.1489A>G (p.Ile497Val)
NM_000176.3(NR3C1):c.1570A>G (p.Thr524Ala) rs567965061
NM_000176.3(NR3C1):c.1676T>A (p.Ile559Asn) rs104893909
NM_000176.3(NR3C1):c.1764C>T (p.His588=) rs6194
NM_000176.3(NR3C1):c.1891_1892+2del rs587776832
NM_000176.3(NR3C1):c.1922A>T (p.Asp641Val) rs104893908
NM_000176.3(NR3C1):c.193T>G (p.Phe65Val) rs6192
NM_000176.3(NR3C1):c.2034C>T (p.Asp678=) rs258751
NM_000176.3(NR3C1):c.2035G>A (p.Gly679Ser) rs104893914
NM_000176.3(NR3C1):c.2182-9C>G rs72542757
NM_000176.3(NR3C1):c.2209T>C (p.Phe737Leu) rs121909727
NM_000176.3(NR3C1):c.2241T>G (p.Ile747Met) rs104893910
NM_000176.3(NR3C1):c.2250C>T (p.Pro750=) rs67300719
NM_000176.3(NR3C1):c.2298T>C (p.Asn766=) rs6196
NM_000176.3(NR3C1):c.2307C>G (p.Ile769Met) rs886060060
NM_000176.3(NR3C1):c.2318T>C (p.Leu773Pro) rs104893912
NM_000176.3(NR3C1):c.289G>A (p.Val97Met) rs886060062
NM_000176.3(NR3C1):c.309A>T (p.Gly103=) rs779300133
NM_000176.3(NR3C1):c.631A>G (p.Ser211Gly) rs886060061
NM_000176.3(NR3C1):c.66G>A (p.Glu22=) rs6189
NM_000176.3(NR3C1):c.685G>A (p.Ala229Thr) rs72542742
NM_000176.3(NR3C1):c.68G>A (p.Arg23Lys) rs6190
NM_000176.3(NR3C1):c.753G>A (p.Pro251=) rs375379753
NM_000176.3(NR3C1):c.850A>G (p.Ile284Val) rs766200119
NM_000176.3(NR3C1):c.879G>A (p.Lys293=) rs10482622
NM_000176.3(NR3C1):c.88T>C (p.Tyr30His) rs143711342
NM_000176.3(NR3C1):c.897A>G (p.Thr299=) rs13306588
NM_000176.3(NR3C1):c.946A>T (p.Met316Leu)
NM_000198.4(HSD3B2):c.*121C>A rs886045198
NM_000198.4(HSD3B2):c.*177C>T rs886045199
NM_000198.4(HSD3B2):c.*202A>G rs9282704
NM_000198.4(HSD3B2):c.*276C>T rs1819698
NM_000198.4(HSD3B2):c.*321C>G rs1361530
NM_000198.4(HSD3B2):c.*397T>A rs753468192
NM_000198.4(HSD3B2):c.*411T>C
NM_000198.4(HSD3B2):c.*46C>T rs371081728
NM_000198.4(HSD3B2):c.*96C>G rs9282703
NM_000198.4(HSD3B2):c.-106T>C
NM_000198.4(HSD3B2):c.1012G>A (p.Ala338Thr)
NM_000198.4(HSD3B2):c.1022C>T (p.Pro341Leu) rs121964897
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=) rs781770416
NM_000198.4(HSD3B2):c.1064G>A (p.Trp355Ter) rs767128094
NM_000198.4(HSD3B2):c.1084C>T (p.Arg362Trp) rs199919404
NM_000198.4(HSD3B2):c.1119A>C (p.Ter373Cys) rs80358218
NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser) rs376207606
NM_000198.4(HSD3B2):c.220G>A (p.Asp74Asn) rs4986954
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=) rs150892928
NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu) rs28934880
NM_000198.4(HSD3B2):c.308-14C>A
NM_000198.4(HSD3B2):c.308-8G>A rs371712928
NM_000198.4(HSD3B2):c.308-9C>T rs375047799
NM_000198.4(HSD3B2):c.333T>G (p.Cys111Trp) rs886045196
NM_000198.4(HSD3B2):c.423C>T (p.His141=) rs751470493
NM_000198.4(HSD3B2):c.424G>A (p.Glu142Lys) rs80358219
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=) rs114527791
NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val) rs35486059
NM_000198.4(HSD3B2):c.501G>A (p.Ala167=) rs6207
NM_000198.4(HSD3B2):c.510G>C (p.Gly170=) rs886045197
NM_000198.4(HSD3B2):c.512G>A (p.Trp171Ter) rs80358216
NM_000198.4(HSD3B2):c.558dup (p.Thr187fs) rs770815049
NM_000198.4(HSD3B2):c.621C>T (p.Asn207=) rs143758913
NM_000198.4(HSD3B2):c.625G>A (p.Gly209Arg) rs587669956
NM_000198.4(HSD3B2):c.659T>C (p.Val220Ala)
NM_000198.4(HSD3B2):c.664C>A (p.Pro222Thr) rs80358220
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser) rs35887327
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=) rs755461071
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met) rs80358221
NM_000198.4(HSD3B2):c.777G>A (p.Thr259=) rs33926546
NM_000198.4(HSD3B2):c.789C>G (p.Ser263Arg) rs771688849
NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr)
NM_000198.4(HSD3B2):c.867del (p.Met290fs) rs767167623
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=) rs34412477
NM_000198.4(HSD3B2):c.[742_743delinsAA;745C>T]
NM_000349.2(STAR):c.-249C>A rs886062906
NM_000349.2(STAR):c.-255G>T rs567801443
NM_000349.3(STAR):c.*1122T>A rs72556520
NM_000349.3(STAR):c.*116T>G rs35462433
NM_000349.3(STAR):c.*1384del rs886062898
NM_000349.3(STAR):c.*1472C>T
NM_000349.3(STAR):c.*1473G>A
NM_000349.3(STAR):c.*1513C>G
NM_000349.3(STAR):c.*1524A>G rs3990403
NM_000349.3(STAR):c.*1543C>A rs748527738
NM_000349.3(STAR):c.*1557A>G
NM_000349.3(STAR):c.*187T>C
NM_000349.3(STAR):c.*230A>G rs34575008
NM_000349.3(STAR):c.*348C>T rs886062904
NM_000349.3(STAR):c.*395G>A
NM_000349.3(STAR):c.*456C>T
NM_000349.3(STAR):c.*550A>C
NM_000349.3(STAR):c.*556A>G rs886062903
NM_000349.3(STAR):c.*688C>T
NM_000349.3(STAR):c.*698C>A
NM_000349.3(STAR):c.*699C>G
NM_000349.3(STAR):c.*768G>A
NM_000349.3(STAR):c.*796A>G rs886062902
NM_000349.3(STAR):c.*817C>T rs886062901
NM_000349.3(STAR):c.*818G>A rs558498679
NM_000349.3(STAR):c.*880C>T
NM_000349.3(STAR):c.*88G>C rs112828857
NM_000349.3(STAR):c.*897C>T
NM_000349.3(STAR):c.*913C>T rs551135472
NM_000349.3(STAR):c.*930C>T
NM_000349.3(STAR):c.*93C>T rs776003335
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.*981A>G rs188232971
NM_000349.3(STAR):c.*987A>G rs28361934
NM_000349.3(STAR):c.-16C>T
NM_000349.3(STAR):c.-70G>T rs370257148
NM_000349.3(STAR):c.108C>T (p.Asn36=) rs373945555
NM_000349.3(STAR):c.120G>A (p.Leu40=) rs138786388
NM_000349.3(STAR):c.125dup (p.Thr44fs) rs750549499
NM_000349.3(STAR):c.135del (p.Ser46fs) rs193922393
NM_000349.3(STAR):c.141G>A (p.Thr47=) rs147318238
NM_000349.3(STAR):c.149_157del (p.Asn50_Val52del) rs1554503018
NM_000349.3(STAR):c.153G>A (p.Gln51=) rs72552290
NM_000349.3(STAR):c.157C>G (p.Arg53Gly)
NM_000349.3(STAR):c.158G>C (p.Arg53Pro)
NM_000349.3(STAR):c.178+1G>C rs1554503011
NM_000349.3(STAR):c.178+2dup rs1563268785
NM_000349.3(STAR):c.178+7G>A
NM_000349.3(STAR):c.178+9T>C rs777624416
NM_000349.3(STAR):c.179-14G>A
NM_000349.3(STAR):c.179-2A>G rs1554502986
NM_000349.3(STAR):c.197_198CT[2] (p.Tyr68fs) rs1563268652
NM_000349.3(STAR):c.229C>T (p.Gln77Ter) rs781281145
NM_000349.3(STAR):c.289_291AAG[1] (p.Lys98del) rs146872295
NM_000349.3(STAR):c.296_297AG[1] (p.Gln101fs) rs765904696
NM_000349.3(STAR):c.306+10G>A rs200480072
NM_000349.3(STAR):c.312T>C (p.Asn104=)
NM_000349.3(STAR):c.361C>T (p.Arg121Trp) rs34908868
NM_000349.3(STAR):c.411C>T (p.Leu137=)
NM_000349.3(STAR):c.466-11T>A rs1053284504
NM_000349.3(STAR):c.466-5G>A rs375678713
NM_000349.3(STAR):c.481G>A (p.Gly161Arg) rs188044385
NM_000349.3(STAR):c.484A>C (p.Lys162Gln) rs886062905
NM_000349.3(STAR):c.504C>T (p.His168=) rs147138315
NM_000349.3(STAR):c.505G>A (p.Glu169Lys) rs747169620
NM_000349.3(STAR):c.544C>T (p.Arg182Cys) rs369232492
NM_000349.3(STAR):c.545G>A (p.Arg182His) rs104894086
NM_000349.3(STAR):c.545G>T (p.Arg182Leu) rs104894086
NM_000349.3(STAR):c.559G>A (p.Val187Met) rs104894089
NM_000349.3(STAR):c.562C>T (p.Arg188Cys) rs104894090
NM_000349.3(STAR):c.563G>A (p.Arg188His) rs61736315
NM_000349.3(STAR):c.574C>T (p.Arg192Cys) rs752311616
NM_000349.3(STAR):c.577C>T (p.Arg193Ter) rs387907235
NM_000349.3(STAR):c.629_630del (p.Pro210fs) rs771895449
NM_000349.3(STAR):c.64+1G>T rs765968701
NM_000349.3(STAR):c.64+2T>C rs1298369560
NM_000349.3(STAR):c.650+13G>T
NM_000349.3(STAR):c.650G>C (p.Arg217Thr) rs137852689
NM_000349.3(STAR):c.651-1G>C rs749626865
NM_000349.3(STAR):c.653C>T (p.Ala218Val) rs137852690
NM_000349.3(STAR):c.677del (p.Val226fs) rs1554502732
NM_000349.3(STAR):c.687G>A (p.Pro229=) rs35852516
NM_000349.3(STAR):c.695del (p.Gly232fs) rs757367795
NM_000349.3(STAR):c.714del (p.Lys238fs) rs1417088430
NM_000349.3(STAR):c.716_732del (p.Leu239fs) rs1554502725
NM_000349.3(STAR):c.731G>A (p.Ser244Asn)
NM_000349.3(STAR):c.745-1_757del rs1554502668
NM_000349.3(STAR):c.749G>A (p.Trp250Ter) rs104894087
NM_000349.3(STAR):c.772C>T (p.Gln258Ter) rs104894085
NM_000349.3(STAR):c.779T>C (p.Leu260Pro) rs551783234
NM_000349.3(STAR):c.801dup (p.Ala268fs) rs1554502663
NM_000349.3(STAR):c.811del (p.Leu271fs) rs1350908961
NM_000349.3(STAR):c.814C>T (p.Arg272Cys) rs751759820
NM_000497.3(CYP11B1):c.*1020C>T rs5017238
NM_000497.3(CYP11B1):c.*1042A>G rs7003319
NM_000497.3(CYP11B1):c.*1076C>T rs61752806
NM_000497.3(CYP11B1):c.*1138del rs148110533
NM_000497.3(CYP11B1):c.*1164G>A rs886062735
NM_000497.3(CYP11B1):c.*1209C>T rs757505651
NM_000497.3(CYP11B1):c.*1258G>A rs61752808
NM_000497.3(CYP11B1):c.*1288A>G rs61752809
NM_000497.3(CYP11B1):c.*132T>C rs5297
NM_000497.3(CYP11B1):c.*1358T>C rs886062734
NM_000497.3(CYP11B1):c.*1417G>A rs61752812
NM_000497.3(CYP11B1):c.*1435T>C rs551125657
NM_000497.3(CYP11B1):c.*1499C>T rs1134095
NM_000497.3(CYP11B1):c.*1512G>A rs61752814
NM_000497.3(CYP11B1):c.*1555del rs548944247
NM_000497.3(CYP11B1):c.*1566G>T rs1134096
NM_000497.3(CYP11B1):c.*1590G>C rs886062733
NM_000497.3(CYP11B1):c.*1622C>T rs543935807
NM_000497.3(CYP11B1):c.*1770A>T rs369448045
NM_000497.3(CYP11B1):c.*1852T>G rs4736312
NM_000497.3(CYP11B1):c.*1871T>A rs61752818
NM_000497.3(CYP11B1):c.*193A>T rs61752798
NM_000497.3(CYP11B1):c.*245C>G rs538608688
NM_000497.3(CYP11B1):c.*318A>G rs5299
NM_000497.3(CYP11B1):c.*400C>T rs61752801
NM_000497.3(CYP11B1):c.*468C>T rs114832894
NM_000497.3(CYP11B1):c.*471A>C rs12543598
NM_000497.3(CYP11B1):c.*485C>G rs886062737
NM_000497.3(CYP11B1):c.*495C>T rs886062736
NM_000497.3(CYP11B1):c.*516A>G rs5301
NM_000497.3(CYP11B1):c.*613A>G rs1137480
NM_000497.3(CYP11B1):c.*634G>A rs1137481
NM_000497.3(CYP11B1):c.*670A>C rs879537131
NM_000497.3(CYP11B1):c.*694T>C rs5303
NM_000497.3(CYP11B1):c.*718T>G rs189479208
NM_000497.3(CYP11B1):c.*737C>T rs748684062
NM_000497.3(CYP11B1):c.*738G>A rs5304
NM_000497.3(CYP11B1):c.*848C>T rs149520110
NM_000497.3(CYP11B1):c.*857T>C rs370725779
NM_000497.3(CYP11B1):c.*901G>A rs748103274
NM_000497.3(CYP11B1):c.*923G>C rs61752805
NM_000497.3(CYP11B1):c.1003A>G (p.Asn335Asp) rs61752766
NM_000497.3(CYP11B1):c.1014G>A (p.Gln338=) rs151335623
NM_000497.3(CYP11B1):c.1015G>A (p.Ala339Thr) rs193922534
NM_000497.3(CYP11B1):c.1015_1016delinsAT (p.Ala339Ile) rs193922535
NM_000497.3(CYP11B1):c.1016C>T (p.Ala339Val) rs193922536
NM_000497.3(CYP11B1):c.1021C>A (p.Arg341Ser) rs372115638
NM_000497.3(CYP11B1):c.1027G>A (p.Glu343Lys) rs1554652796
NM_000497.3(CYP11B1):c.1042G>A (p.Ala348Thr) rs6407
NM_000497.3(CYP11B1):c.104T>C (p.Val35Ala) rs201951316
NM_000497.3(CYP11B1):c.1066C>T (p.Gln356Ter) rs146124466
NM_000497.3(CYP11B1):c.1086G>C (p.Leu362=) rs6403
NM_000497.3(CYP11B1):c.1090T>C (p.Leu364=) rs754660381
NM_000497.3(CYP11B1):c.1098T>G (p.Arg366=) rs61752769
NM_000497.3(CYP11B1):c.1103C>A (p.Ala368Asp) rs104894071
NM_000497.3(CYP11B1):c.1112A>G (p.Glu371Gly) rs368944209
NM_000497.3(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.3(CYP11B1):c.1120C>T (p.Arg374Trp) rs61752786
NM_000497.3(CYP11B1):c.1121G>A (p.Arg374Gln) rs104894062
NM_000497.3(CYP11B1):c.1122-12C>T rs193922537
NM_000497.3(CYP11B1):c.1122-20A>G rs61752794
NM_000497.3(CYP11B1):c.1128C>A (p.Tyr376Ter) rs760880418
NM_000497.3(CYP11B1):c.1144C>T (p.Leu382=) rs5293
NM_000497.3(CYP11B1):c.1145T>G (p.Leu382Arg) rs1412048304
NM_000497.3(CYP11B1):c.1151G>A (p.Arg384Gln) rs764598023
NM_000497.3(CYP11B1):c.1157C>A (p.Ala386Glu) rs4541
NM_000497.3(CYP11B1):c.1157C>T (p.Ala386Val) rs4541
NM_000497.3(CYP11B1):c.1159dup (p.Ser387fs) rs1379392398
NM_000497.3(CYP11B1):c.1205T>C (p.Leu402Ser) rs886062738
NM_000497.3(CYP11B1):c.124C>T (p.Pro42Ser) rs104894069
NM_000497.3(CYP11B1):c.125C>T (p.Pro42Leu) rs193922538
NM_000497.3(CYP11B1):c.1269T>G (p.Tyr423Ter) rs267606755
NM_000497.3(CYP11B1):c.1280G>A (p.Arg427His) rs754432887
NM_000497.3(CYP11B1):c.128G>A (p.Arg43Gln) rs4534
NM_000497.3(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938
NM_000497.3(CYP11B1):c.1343G>A (p.Arg448His) rs28934586
NM_000497.3(CYP11B1):c.1353T>C (p.Leu451=) rs5316
NM_000497.3(CYP11B1):c.1361G>A (p.Arg454His) rs367634557
NM_000497.3(CYP11B1):c.1398+2T>C rs577022490
NM_000497.3(CYP11B1):c.1398+4A>G rs1586557065
NM_000497.3(CYP11B1):c.1399-14G>C rs5295
NM_000497.3(CYP11B1):c.1451T>A (p.Val484Asp) rs374517238
NM_000497.3(CYP11B1):c.147del (p.Trp49fs) rs748867146
NM_000497.3(CYP11B1):c.1486del (p.Leu496fs) rs1554652528
NM_000497.3(CYP11B1):c.1488C>T (p.Leu496=) rs776766470
NM_000497.3(CYP11B1):c.168G>A (p.Trp56Ter) rs1383321200
NM_000497.3(CYP11B1):c.187G>C (p.Asp63His) rs5282
NM_000497.3(CYP11B1):c.217C>T (p.Gln73Ter) rs1554653675
NM_000497.3(CYP11B1):c.225A>G (p.Leu75=) rs6410
NM_000497.3(CYP11B1):c.235T>A (p.Phe79Ile) rs1489638195
NM_000497.3(CYP11B1):c.239+13C>A rs6402
NM_000497.3(CYP11B1):c.243C>T (p.Tyr81=) rs9657022
NM_000497.3(CYP11B1):c.246C>T (p.Asp82=) rs5283
NM_000497.3(CYP11B1):c.264G>A (p.Met88Ile) rs193922539
NM_000497.3(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.3(CYP11B1):c.304C>T (p.Gln102Ter) rs1554653551
NM_000497.3(CYP11B1):c.346T>G (p.Trp116Gly) rs772733691
NM_000497.3(CYP11B1):c.347G>A (p.Trp116Ter) rs104894066
NM_000497.3(CYP11B1):c.372del (p.His125fs) rs1554653520
NM_000497.3(CYP11B1):c.374A>G (p.His125Arg) rs757389720
NM_000497.3(CYP11B1):c.375C>G (p.His125Gln) rs201137503
NM_000497.3(CYP11B1):c.385G>A (p.Val129Met) rs377423817
NM_000497.3(CYP11B1):c.395+1G>C rs1554653514
NM_000497.3(CYP11B1):c.395+9C>T rs61751140
NM_000497.3(CYP11B1):c.397A>C (p.Asn133His) rs104894067
NM_000497.3(CYP11B1):c.412C>T (p.Arg138Cys) rs764251434
NM_000497.3(CYP11B1):c.413G>A (p.Arg138His) rs193922540
NM_000497.3(CYP11B1):c.422G>A (p.Arg141Gln) rs267601810
NM_000497.3(CYP11B1):c.427C>T (p.Arg143Trp) rs140336749
NM_000497.3(CYP11B1):c.446T>C (p.Leu149Pro) rs1554653200
NM_000497.3(CYP11B1):c.449C>T (p.Ser150Leu) rs142484434
NM_000497.3(CYP11B1):c.45G>A (p.Trp15Ter) rs1554653714
NM_000497.3(CYP11B1):c.473T>C (p.Leu158Pro) rs1554653191
NM_000497.3(CYP11B1):c.494C>A (p.Ala165Asp) rs1554653185
NM_000497.3(CYP11B1):c.554C>G (p.Thr185Ser) rs566921201
NM_000497.3(CYP11B1):c.55C>T (p.Gln19Ter) rs763195324
NM_000497.3(CYP11B1):c.595+12G>A rs6387
NM_000497.3(CYP11B1):c.595+16G>T rs1365173817
NM_000497.3(CYP11B1):c.595+1G>A rs1264073726
NM_000497.3(CYP11B1):c.606G>A (p.Leu202=) rs61751154
NM_000497.3(CYP11B1):c.632_640del (p.Leu211_Gly213del) rs1554653044
NM_000497.3(CYP11B1):c.740G>A (p.Trp247Ter) rs866430018
NM_000497.3(CYP11B1):c.743C>T (p.Thr248Ile) rs34620645
NM_000497.3(CYP11B1):c.748C>T (p.Pro250Ser) rs753471858
NM_000497.3(CYP11B1):c.779G>A (p.Trp260Ter) rs1554652999
NM_000497.3(CYP11B1):c.780G>A (p.Trp260Ter) rs1554652998
NM_000497.3(CYP11B1):c.799+1G>C rs1554652990
NM_000497.3(CYP11B1):c.799+2T>C rs193922541
NM_000497.3(CYP11B1):c.799+5G>C rs193922542
NM_000497.3(CYP11B1):c.800-14C>T rs4535
NM_000497.3(CYP11B1):c.823T>C (p.Tyr275His) rs141368413
NM_000497.3(CYP11B1):c.825T>C (p.Tyr275=) rs5290
NM_000497.3(CYP11B1):c.841_842insACAGTACACCA (p.Ser281fs) rs775128501
NM_000497.3(CYP11B1):c.873G>A (p.Ala291=) rs34570566
NM_000497.3(CYP11B1):c.896T>C (p.Leu299Pro) rs387907573
NM_000497.3(CYP11B1):c.917C>T (p.Ala306Val) rs387907572
NM_000497.3(CYP11B1):c.928G>A (p.Glu310Lys) rs387907574
NM_000497.3(CYP11B1):c.930A>G (p.Glu310=) rs148707144
NM_000497.3(CYP11B1):c.953C>G (p.Thr318Arg) rs104894061
NM_000497.3(CYP11B1):c.953C>T (p.Thr318Met) rs104894061
NM_000497.3(CYP11B1):c.954+9G>C rs6411
NM_000497.3(CYP11B1):c.954G>A (p.Thr318=) rs753774484
NM_000497.3(CYP11B1):c.955-15_955-1del rs1554652823
NM_000497.3(CYP11B1):c.955-1G>A rs1456715954
NM_000497.3(CYP11B1):c.956C>T (p.Thr319Met) rs104894068
NM_000497.3(CYP11B1):c.992C>T (p.Ala331Val) rs1326688256
NM_000497.3(CYP11B1):c.995G>A (p.Arg332Gln) rs149881706
NM_000497.4(CYP11B1):c.*1012A>C
NM_000497.4(CYP11B1):c.*1253G>T
NM_000497.4(CYP11B1):c.*1264A>C
NM_000497.4(CYP11B1):c.*1296A>G
NM_000497.4(CYP11B1):c.*1313C>T
NM_000497.4(CYP11B1):c.*1476G>C
NM_000497.4(CYP11B1):c.*1511C>T
NM_000497.4(CYP11B1):c.*1550C>T
NM_000497.4(CYP11B1):c.*1623G>C
NM_000497.4(CYP11B1):c.*1929A>C
NM_000497.4(CYP11B1):c.*193A>C
NM_000497.4(CYP11B1):c.*1944G>A
NM_000497.4(CYP11B1):c.*1979G>A
NM_000497.4(CYP11B1):c.*244C>T
NM_000497.4(CYP11B1):c.*317T>C
NM_000497.4(CYP11B1):c.*345C>A
NM_000497.4(CYP11B1):c.*390A>G
NM_000497.4(CYP11B1):c.*516A>T
NM_000497.4(CYP11B1):c.*596C>A
NM_000497.4(CYP11B1):c.*607C>T
NM_000497.4(CYP11B1):c.*614C>T
NM_000497.4(CYP11B1):c.*946G>A
NM_000497.4(CYP11B1):c.107T>G (p.Leu36Arg)
NM_000497.4(CYP11B1):c.1200+11C>T
NM_000497.4(CYP11B1):c.1399-14G>A
NM_000497.4(CYP11B1):c.1465T>C (p.Leu489=)
NM_000497.4(CYP11B1):c.206A>G (p.His69Arg)
NM_000497.4(CYP11B1):c.218A>G (p.Gln73Arg)
NM_000497.4(CYP11B1):c.239+20T>A
NM_000497.4(CYP11B1):c.244G>A (p.Asp82Asn)
NM_000497.4(CYP11B1):c.263T>C (p.Met88Thr)
NM_000497.4(CYP11B1):c.334A>C (p.Ser112Arg)
NM_000497.4(CYP11B1):c.395+6C>T rs553707049
NM_000497.4(CYP11B1):c.450G>A (p.Ser150=)
NM_000497.4(CYP11B1):c.541C>T (p.Arg181Trp)
NM_000497.4(CYP11B1):c.542G>C (p.Arg181Pro)
NM_000497.4(CYP11B1):c.595+14G>A
NM_000497.4(CYP11B1):c.596-41C>T
NM_000497.4(CYP11B1):c.632T>C (p.Leu211Pro)
NM_000497.4(CYP11B1):c.736C>T (p.Arg246Cys)
NM_000497.4(CYP11B1):c.746G>A (p.Ser249Asn)
NM_000497.4(CYP11B1):c.802G>A (p.Asp268Asn)
NM_000497.4(CYP11B1):c.912C>G (p.Ile304Met)
NM_000497.4(CYP11B1):c.957G>A (p.Thr319=)
NM_000500.5(CYP21A2):c.[701T>A;713T>A;719T>A]
NM_000500.5:c.293-13A>G(659A>G)
NM_000500.7(CYP21A2):c.332_339delGAGACTAC (p.Gly111Valfs) rs387906510
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898
NM_000500.7(CYP21A2):c.[377C>G];[518T>A]
NM_000500.7(CYP21A2):c.[518T>A];[830_841delTCCTGGAAGGGC]
NM_000500.7(CYP21A2):c.[710T>A;713T>A;719T>A]
NM_000500.7(CYP21A2):c.[844G>T;920_921insT;955C>T;1069C>T]
NM_000500.7:c.*28697405C>T
NM_000500.7:c.*28697972C>G
NM_000500.7:c.*28698024_*28698031del8
NM_000500.7:c.*28698317T>A
NM_000500.7:c.*28699001G>T
NM_000500.7:c.*28699080dupT
NM_000500.7:c.*28699312C>T
NM_000500.7:c.*28699426C>T
NM_000500.9(CYP21A2):c.*13G>A rs6447
NM_000500.9(CYP21A2):c.*18C>T rs1582314321
NM_000500.9(CYP21A2):c.*2G>C rs1182749183
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409
NM_000500.9(CYP21A2):c.1109G>C (p.Arg370Pro) rs376421504
NM_000500.9(CYP21A2):c.1118G>A (p.Ser373Asn) rs1554305880
NM_000500.9(CYP21A2):c.1132G>T (p.Asp378Tyr) rs528524868
NM_000500.9(CYP21A2):c.1136T>A (p.Ile379Asn) rs1429901248
NM_000500.9(CYP21A2):c.1170A>T (p.Gln390His) rs1582311004
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1201A>G (p.Arg401Gly) rs1451687726
NM_000500.9(CYP21A2):c.1217G>A (p.Trp406Ter) rs151344503
NM_000500.9(CYP21A2):c.1223-21C>T rs755724055
NM_000500.9(CYP21A2):c.1223-3C>G rs6460
NM_000500.9(CYP21A2):c.1225C>T (p.Arg409Cys) rs72552757
NM_000500.9(CYP21A2):c.1272C>A (p.Cys424Ter) rs1367112998
NM_000500.9(CYP21A2):c.1280G>A (p.Arg427His) rs151344504
NM_000500.9(CYP21A2):c.1287C>T (p.Cys429=) rs193922543
NM_000500.9(CYP21A2):c.1291G>A (p.Gly431Ser) rs1582312633
NM_000500.9(CYP21A2):c.1298C>G (p.Pro433Arg) rs751456004
NM_000500.9(CYP21A2):c.1306C>T (p.Arg436Cys) rs767333157
NM_000500.9(CYP21A2):c.1320C>T (p.Phe440=) rs1188690556
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445
NM_000500.9(CYP21A2):c.1371C>A (p.Asp457Glu) rs1257180779
NM_000500.9(CYP21A2):c.137C>G (p.Pro46Arg) rs1240539721
NM_000500.9(CYP21A2):c.1405A>G (p.Ser469Gly) rs1436972952
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000500.9(CYP21A2):c.1447C>A (p.Pro483Thr) rs776989258
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser) rs776989258
NM_000500.9(CYP21A2):c.1450dup (p.Arg484fs) rs779791105
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs) rs397509367
NM_000500.9(CYP21A2):c.1482C>T (p.Ser494=) rs397515529
NM_000500.9(CYP21A2):c.159_160del (p.Gln54fs) rs886038207
NM_000500.9(CYP21A2):c.17_19TGC[6] (p.Leu10dup) rs61338903
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252
NM_000500.9(CYP21A2):c.203-18G>C rs1582300565
NM_000500.9(CYP21A2):c.203-46C>T rs6452
NM_000500.9(CYP21A2):c.20dup (p.Leu8fs) rs1582298980
NM_000500.9(CYP21A2):c.254del (p.Lys85fs) rs1582300748
NM_000500.9(CYP21A2):c.268G>T (p.Ala90Ser) rs1185350916
NM_000500.9(CYP21A2):c.274A>G (p.Arg92Gly) rs1554304513
NM_000500.9(CYP21A2):c.292+109C>G rs1582301551
NM_000500.9(CYP21A2):c.292+37T>A rs184177366
NM_000500.9(CYP21A2):c.292+3A>G rs752771213
NM_000500.9(CYP21A2):c.292+45_292+46insTGT rs1422458709
NM_000500.9(CYP21A2):c.292+56T>G rs543633765
NM_000500.9(CYP21A2):c.293-100_293-99insG rs1582301904
NM_000500.9(CYP21A2):c.293-115C>G rs1582301787
NM_000500.9(CYP21A2):c.293-130C>T rs1582301718
NM_000500.9(CYP21A2):c.293-131_293-129dup rs1219292422
NM_000500.9(CYP21A2):c.293-136C>T rs1582301685
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.293-13C>T rs6467
NM_000500.9(CYP21A2):c.293-2A>G rs1582302625
NM_000500.9(CYP21A2):c.293-7C>G rs193922544
NM_000500.9(CYP21A2):c.293-80G>A rs79249676
NM_000500.9(CYP21A2):c.293-88G>A rs1282239643
NM_000500.9(CYP21A2):c.293-89A>G rs1582302040
NM_000500.9(CYP21A2):c.293-91G>A rs1051507539
NM_000500.9(CYP21A2):c.293-94T>A rs1582301962
NM_000500.9(CYP21A2):c.293-95G>C rs1382005578
NM_000500.9(CYP21A2):c.293-96G>T rs1582301922
NM_000500.9(CYP21A2):c.308G>A (p.Arg103Lys) rs6474
NM_000500.9(CYP21A2):c.322C>T (p.Leu108=) rs1258749689
NM_000500.9(CYP21A2):c.327C>G (p.Ser109=) rs193922545
NM_000500.9(CYP21A2):c.342C>T (p.Ser114=) rs193922546
NM_000500.9(CYP21A2):c.361A>C (p.Lys121Gln) rs267606757
NM_000500.9(CYP21A2):c.382C>T (p.Leu128=) rs1433029679
NM_000500.9(CYP21A2):c.405C>T (p.Ser135=) rs1582303392
NM_000500.9(CYP21A2):c.447+38C>T rs6466
NM_000500.9(CYP21A2):c.447+39G>A rs569670804
NM_000500.9(CYP21A2):c.448-3C>T rs1582304092
NM_000500.9(CYP21A2):c.448-50G>A rs780875791
NM_000500.9(CYP21A2):c.485A>G (p.Glu162Gly) rs1229809778
NM_000500.9(CYP21A2):c.499C>G (p.Leu167Val) rs1582304416
NM_000500.9(CYP21A2):c.500T>G (p.Leu167Arg) rs1582304441
NM_000500.9(CYP21A2):c.509G>A (p.Cys170Tyr) rs1582304457
NM_000500.9(CYP21A2):c.50G>T (p.Arg17Leu) rs1185695713
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_000500.9(CYP21A2):c.525C>A (p.Tyr175Ter) rs1582304536
NM_000500.9(CYP21A2):c.540C>G (p.Asp180Glu) rs777946906
NM_000500.9(CYP21A2):c.550-19C>G rs1582305066
NM_000500.9(CYP21A2):c.552C>G (p.Asp184Glu) rs397515531
NM_000500.9(CYP21A2):c.559T>G (p.Leu187Val) rs1582305275
NM_000500.9(CYP21A2):c.597A>T (p.Leu199Phe) rs143240527
NM_000500.9(CYP21A2):c.651+30G>A rs777741541
NM_000500.9(CYP21A2):c.651+35A>G rs12525076
NM_000500.9(CYP21A2):c.652-5C>T rs758449746
NM_000500.9(CYP21A2):c.710_719delinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys) rs786204728
NM_000500.9(CYP21A2):c.724C>G (p.Leu242Val) rs1582306855
NM_000500.9(CYP21A2):c.738+12_738+13inv
NM_000500.9(CYP21A2):c.738+75C>T rs1463196531
NM_000500.9(CYP21A2):c.739-74G>A rs1582307366
NM_000500.9(CYP21A2):c.740del (p.Glu247fs) rs750499484
NM_000500.9(CYP21A2):c.747C>G (p.Leu249=) rs6477
NM_000500.9(CYP21A2):c.754G>A (p.Gly252Ser) rs182942340
NM_000500.9(CYP21A2):c.782T>C (p.Met261Thr) rs1582307951
NM_000500.9(CYP21A2):c.782T>G (p.Met261Arg) rs1582307951
NM_000500.9(CYP21A2):c.797C>T (p.Ala266Val) rs144029176
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr) rs6472
NM_000500.9(CYP21A2):c.844G>C (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val) rs770199817
NM_000500.9(CYP21A2):c.856G>T (p.Ala286Ser) rs570785206
NM_000500.9(CYP21A2):c.85dup (p.His29fs) rs1582299448
NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser) rs201552310
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251
NM_000941.2(POR):c.-33G>T rs72553977
NM_000941.2(POR):c.-47A>C rs3823884
NM_000941.2(POR):c.-80A>C rs886062437
NM_000941.3(POR):c.*137G>A rs886062443
NM_000941.3(POR):c.*178C>T
NM_000941.3(POR):c.*179G>A rs184275273
NM_000941.3(POR):c.*207C>G
NM_000941.3(POR):c.*218C>T
NM_000941.3(POR):c.*219G>T
NM_000941.3(POR):c.*21C>A rs782245884
NM_000941.3(POR):c.*240C>T rs13921
NM_000941.3(POR):c.*273T>C
NM_000941.3(POR):c.*291G>A rs886062445
NM_000941.3(POR):c.*306G>A rs17685
NM_000941.3(POR):c.*33C>T
NM_000941.3(POR):c.*372G>A rs2286824
NM_000941.3(POR):c.*40T>G
NM_000941.3(POR):c.*51C>T
NM_000941.3(POR):c.*60C>T rs72557960
NM_000941.3(POR):c.*63C>T
NM_000941.3(POR):c.*76G>A rs55909219
NM_000941.3(POR):c.-5+8C>G
NM_000941.3(POR):c.-5+9T>C
NM_000941.3(POR):c.-5G>A rs886062438
NM_000941.3(POR):c.-5G>C rs886062438
NM_000941.3(POR):c.-5G>T rs886062438
NM_000941.3(POR):c.1000G>A (p.Val334Ile)
NM_000941.3(POR):c.1042G>A (p.Val348Ile)
NM_000941.3(POR):c.1067-13C>G rs4732516
NM_000941.3(POR):c.1101T>A (p.Pro367=) rs782729580
NM_000941.3(POR):c.1104G>A (p.Thr368=) rs150414675
NM_000941.3(POR):c.112G>A (p.Val38Met)
NM_000941.3(POR):c.1152G>A (p.Pro384=)
NM_000941.3(POR):c.1161C>T (p.Asn387=)
NM_000941.3(POR):c.1185C>T (p.Tyr395=)
NM_000941.3(POR):c.1191G>A (p.Ser397=)
NM_000941.3(POR):c.1200G>A (p.Ser400=) rs372401863
NM_000941.3(POR):c.1217G>A (p.Arg406His)
NM_000941.3(POR):c.1236C>T (p.Ser412=) rs41301424
NM_000941.3(POR):c.1245C>T (p.Gly415=)
NM_000941.3(POR):c.1248+12C>T rs2286822
NM_000941.3(POR):c.1265G>T (p.Trp422Leu)
NM_000941.3(POR):c.1363del (p.Gln455fs) rs781805159
NM_000941.3(POR):c.1370G>A (p.Arg457His) rs28931608
NM_000941.3(POR):c.1384G>A (p.Ala462Thr)
NM_000941.3(POR):c.1384G>C (p.Ala462Pro) rs72557936
NM_000941.3(POR):c.1398+10G>A
NM_000941.3(POR):c.1398+15T>A
NM_000941.3(POR):c.1414G>C (p.Val472Leu)
NM_000941.3(POR):c.1455T>C (p.Ala485=) rs2228104
NM_000941.3(POR):c.1491G>T (p.Leu497=) rs370326231
NM_000941.3(POR):c.1501G>A (p.Glu501Lys) rs782697310
NM_000941.3(POR):c.1508C>T (p.Ala503Val) rs1057868
NM_000941.3(POR):c.1518C>T (p.Asn506=) rs782397055
NM_000941.3(POR):c.1519G>A (p.Gly507Ser)
NM_000941.3(POR):c.1521C>T (p.Gly507=) rs370823127
NM_000941.3(POR):c.1564C>T (p.Arg522Cys) rs782533830
NM_000941.3(POR):c.1571_1619dup (p.Ala541fs) rs1563435458
NM_000941.3(POR):c.1587G>A (p.Thr529=)
NM_000941.3(POR):c.158A>T (p.Glu53Val) rs376145249
NM_000941.3(POR):c.1594A>G (p.Ile532Val) rs886062442
NM_000941.3(POR):c.159A>C (p.Glu53Asp) rs370701548
NM_000941.3(POR):c.15A>G (p.Gly5=) rs10262966
NM_000941.3(POR):c.1609G>C (p.Gly537Arg)
NM_000941.3(POR):c.1615G>A (p.Gly539Arg) rs121912976
NM_000941.3(POR):c.1660C>T (p.Arg554Ter) rs782336856
NM_000941.3(POR):c.1669+5G>C
NM_000941.3(POR):c.1670-4G>A rs372733766
NM_000941.3(POR):c.169T>C (p.Phe57Leu) rs782711779
NM_000941.3(POR):c.1702G>A (p.Gly568Ser) rs779082897
NM_000941.3(POR):c.1706G>A (p.Cys569Tyr) rs28931607
NM_000941.3(POR):c.1715C>T (p.Ser572Leu)
NM_000941.3(POR):c.1716G>A (p.Ser572=) rs1057870
NM_000941.3(POR):c.1730T>C (p.Leu577Pro) rs56256515
NM_000941.3(POR):c.1759A>G (p.Arg587Gly) rs781795917
NM_000941.3(POR):c.1764C>T (p.Asp588=) rs72557949
NM_000941.3(POR):c.1815+12G>A rs371432868
NM_000941.3(POR):c.1815+7C>T rs72557951
NM_000941.3(POR):c.1815+8G>A rs72557952
NM_000941.3(POR):c.1822G>T (p.Val608Phe) rs72552772
NM_000941.3(POR):c.1876G>A (p.Gly626Ser)
NM_000941.3(POR):c.188+2T>C rs936203749
NM_000941.3(POR):c.189-10T>C rs374111607
NM_000941.3(POR):c.1891G>A (p.Val631Ile) rs145782750
NM_000941.3(POR):c.1898+13G>T rs72557956
NM_000941.3(POR):c.1898+3G>A rs41301439
NM_000941.3(POR):c.1935C>T (p.Thr645=)
NM_000941.3(POR):c.1948G>A (p.Val650Met) rs148175064
NM_000941.3(POR):c.1953T>G (p.Ala651=) rs370865328
NM_000941.3(POR):c.1959C>T (p.Leu653=) rs41301442
NM_000941.3(POR):c.214T>C (p.Phe72Leu) rs782107314
NM_000941.3(POR):c.235A>G (p.Thr79Ala)
NM_000941.3(POR):c.238-5C>T
NM_000941.3(POR):c.246C>T (p.Asn82=) rs1585126959
NM_000941.3(POR):c.317A>G (p.His106Arg)
NM_000941.3(POR):c.320G>A (p.Arg107His)
NM_000941.3(POR):c.324C>T (p.Tyr108=)
NM_000941.3(POR):c.325G>A (p.Gly109Arg) rs372623440
NM_000941.3(POR):c.344C>T (p.Ala115Val) rs199634961
NM_000941.3(POR):c.366+14G>A rs372941705
NM_000941.3(POR):c.369C>T (p.Ala123=) rs41299490
NM_000941.3(POR):c.387A>G (p.Pro129=) rs1135612
NM_000941.3(POR):c.399C>T (p.Asn133=) rs181837747
NM_000941.3(POR):c.429C>T (p.Tyr143=)
NM_000941.3(POR):c.469G>A (p.Asp157Asn)
NM_000941.3(POR):c.490G>A (p.Val164Met) rs200112691
NM_000941.3(POR):c.513C>G (p.Phe171Leu) rs372715546
NM_000941.3(POR):c.513C>T (p.Phe171=)
NM_000941.3(POR):c.515C>T (p.Ala172Val) rs374967948
NM_000941.3(POR):c.517-4G>A rs41299496
NM_000941.3(POR):c.531G>T (p.Gly177=) rs72557913
NM_000941.3(POR):c.541T>G (p.Tyr181Asp) rs72552771
NM_000941.3(POR):c.561G>T (p.Met187Ile)
NM_000941.3(POR):c.569A>G (p.Tyr190Cys)
NM_000941.3(POR):c.571G>A (p.Val191Met) rs201513102
NM_000941.3(POR):c.571G>C (p.Val191Leu) rs201513102
NM_000941.3(POR):c.624G>A (p.Leu208=)
NM_000941.3(POR):c.642-5C>G rs72555509
NM_000941.3(POR):c.683C>T (p.Pro228Leu) rs17853284
NM_000941.3(POR):c.687C>T (p.Ala229=) rs72557906
NM_000941.3(POR):c.719G>A (p.Gly240Asp)
NM_000941.3(POR):c.744C>T (p.Tyr248=) rs201786397
NM_000941.3(POR):c.830+15C>T rs540000393
NM_000941.3(POR):c.830C>T (p.Pro277Leu)
NM_000941.3(POR):c.859G>C (p.Ala287Pro) rs121912974
NM_000941.3(POR):c.870C>T (p.Thr290=) rs782249427
NM_000941.3(POR):c.87G>A (p.Thr29=) rs41295381
NM_000941.3(POR):c.897C>T (p.Thr299=) rs180683888
NM_000941.3(POR):c.898G>A (p.Glu300Lys)
NM_000941.3(POR):c.947+10G>A
NM_000941.3(POR):c.947+3A>G rs782232516
NM_000941.3(POR):c.947G>C (p.Arg316Thr)
NM_000941.3(POR):c.948-14A>C rs886062441
NM_000941.3(POR):c.984C>T (p.Ala328=) rs72557941
NM_000941.3(POR):c.999C>T (p.Leu333=) rs376830846
NM_001018077.1(NR3C1):c.-1008C>T
NM_001018077.1(NR3C1):c.-14+9T>C
NM_001018077.1(NR3C1):c.-363G>A
NM_001018077.1(NR3C1):c.-367G>A
NM_001018077.1(NR3C1):c.-445A>G
NM_001018077.1(NR3C1):c.-464G>T
NM_001018077.1(NR3C1):c.-531G>A
NM_001018077.1(NR3C1):c.-553G>A
NM_001018077.1(NR3C1):c.-616T>G
NM_001018077.1(NR3C1):c.-620G>A
NM_001018077.1(NR3C1):c.-717A>T
NM_001018077.1(NR3C1):c.-741T>C
NM_001018077.1(NR3C1):c.-745C>T
NM_001018077.1(NR3C1):c.-753G>A
NM_001018077.1(NR3C1):c.-782G>T
NM_001018077.1(NR3C1):c.-894T>C
NM_001018077.1(NR3C1):c.-896A>C
NM_001018077.1(NR3C1):c.-904G>A
NM_001018077.1(NR3C1):c.-90A>G
NM_001018077.1(NR3C1):c.-958G>T
NM_001026213.1(CYP11B1):c.1181del (p.Asn394fs) rs1256580853
NM_001026213.1(CYP11B1):c.1200+84del rs1554652650
NM_001026213.1(CYP11B1):c.317_344del (p.Leu106fs) rs764418169
NM_001026213.1(CYP11B1):c.517_519AAG[2] (p.Lys175del) rs535861895
NM_001128590.3(CYP21A2):c.868_870GAG[1] (p.Glu291del) rs1582309414
NM_001166120.1(HSD3B2):c.-90+57G>A rs35226381
NM_001354.5(AKR1C2):c.235A>G (p.Ile79Val) rs387906750
NM_001354.5(AKR1C2):c.270T>G (p.His90Gln) rs797044460
NM_001354.5(AKR1C2):c.441A>G (p.Thr147=) rs3207909
NM_001354.5(AKR1C2):c.666T>G (p.His222Gln) rs13222
NM_001354.5(AKR1C2):c.899A>C (p.Asn300Thr) rs387906751
NM_001818.4(AKR1C4):c.85-106G>T rs398122815
NM_004285.4(H6PD):c.1076G>A (p.Gly359Asp) rs387907167
NM_004285.4(H6PD):c.1358G>A (p.Arg453Gln) rs6688832
NM_004285.4(H6PD):c.1860_1861insACAGGTGGTTGACCTGTGGCCGGGTCTGA (p.Glu621delinsThrGlyGlyTer) rs606231222
NM_004285.4(H6PD):c.325del (p.Arg109fs) rs398122818
NM_004285.4(H6PD):c.745+88T>A rs12032814
NM_004285.4(H6PD):c.948C>G (p.Tyr316Ter) rs398122817
NM_004285.4(H6PD):c.960G>A (p.Val320=) rs398122816
NM_005525.4(HSD11B1):c.409C>T (p.Arg137Cys) rs387907168
NM_005525.4(HSD11B1):c.561G>T (p.Lys187Asn) rs756817759
NM_018979.4(WNK1):c.5572G>A (p.Gly1858Arg)
NM_031925.3(TMEM120A):c.*305A>C
NM_031925.3(TMEM120A):c.*313C>T
NM_181755.2(HSD11B1):c.[331+53_331+54insA;332-29T>G]
STAR, 1-BP DEL, 261T

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