ClinVar Miner

List of variants reported as uncertain significance for adrenocortical insufficiency

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 777
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HGVS dbSNP gnomAD frequency
NM_000529.2(MC2R):c.*998T>A rs4797823 0.13235
NM_000529.2(MC2R):c.*996A>T rs4996467 0.05839
NM_000529.2(MC2R):c.*1000T>A rs886053636 0.03268
NM_000529.2(MC2R):c.*1002T>A rs761446119 0.01879
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
NM_000497.4(CYP11B1):c.1122-20A>G rs61752794 0.01661
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser) rs35887327 0.01309
NM_015665.6(AAAS):c.-130C>T rs149864679 0.00832
NM_001395413.1(POR):c.*51C>T rs41302345 0.00770
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_001395413.1(POR):c.1889+3G>A rs41301439 0.00568
NM_000102.4(CYP17A1):c.-14G>A rs17115125 0.00562
NM_000529.2(MC2R):c.*994A>T rs4996466 0.00471
NM_001395413.1(POR):c.*240C>T rs13921 0.00471
NM_001395413.1(POR):c.508-4G>A rs41299496 0.00462
NM_000529.2(MC2R):c.*990A>T rs993146709 0.00455
NM_000529.2(MC2R):c.*578C>A rs34482956 0.00404
NM_015665.6(AAAS):c.679T>C (p.Leu227=) rs80027466 0.00392
NM_000198.4(HSD3B2):c.501G>A (p.Ala167=) rs6207 0.00387
NM_001395413.1(POR):c.*63C>T rs72557961 0.00342
NM_000497.4(CYP11B1):c.825T>C (p.Tyr275=) rs5290 0.00338
NM_000529.2(MC2R):c.*1537A>G rs34722656 0.00332
NM_000349.3(STAR):c.*395G>A rs115807877 0.00320
NM_000529.2(MC2R):c.*1004T>A rs1313532679 0.00291
NM_001395413.1(POR):c.674C>T (p.Pro225Leu) rs17853284 0.00271
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_000349.3(STAR):c.*1122T>A rs72556520 0.00254
NM_015665.6(AAAS):c.-73G>A rs561616104 0.00252
NM_000349.3(STAR):c.433G>A (p.Gly145Arg) rs80231229 0.00250
NM_000497.4(CYP11B1):c.1003A>G (p.Asn335Asp) rs61752766 0.00248
NM_000529.2(MC2R):c.*582C>A rs34861769 0.00237
NM_000497.4(CYP11B1):c.395+9C>T rs61751140 0.00235
NM_000349.3(STAR):c.*981A>G rs188232971 0.00228
NM_000529.2(MC2R):c.*1452A>G rs34158267 0.00225
NM_000500.9(CYP21A2):c.597A>T (p.Leu199Phe) rs143240527 0.00204
NM_000349.3(STAR):c.*1472C>T rs7833285 0.00203
NM_000349.3(STAR):c.361C>T (p.Arg121Trp) rs34908868 0.00193
NM_000500.9(CYP21A2):c.797C>T (p.Ala266Val) rs144029176 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_015665.6(AAAS):c.1249+8G>A rs200834285 0.00155
NM_000198.4(HSD3B2):c.*397T>A rs753468192 0.00153
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_000529.2(MC2R):c.133G>A (p.Val45Ile) rs148298654 0.00128
NM_000529.2(MC2R):c.429C>T (p.Thr143=) rs138421793 0.00127
NM_000349.3(STAR):c.650+13G>T rs377756089 0.00123
NM_000349.3(STAR):c.*230A>G rs34575008 0.00120
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
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_000349.3(STAR):c.481G>A (p.Gly161Arg) rs188044385 0.00103
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_001379228.1(MRAP):c.508T>A (p.Leu170Met) rs142897309 0.00083
NM_000500.9(CYP21A2):c.1306C>T (p.Arg436Cys) rs767333157 0.00075
NM_000349.3(STAR):c.*1557A>G rs774615544 0.00074
NM_000529.2(MC2R):c.*992A>T rs897474751 0.00074
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940 0.00068
NM_000349.3(STAR):c.*880C>T rs548810270 0.00067
NM_000529.2(MC2R):c.765G>A (p.Met255Ile) rs181640454 0.00062
NM_001395413.1(POR):c.*76G>A rs55909219 0.00062
NM_001395413.1(POR):c.1106C>T (p.Thr369Met) rs367810540 0.00058
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_000349.3(STAR):c.*818G>A rs558498679 0.00054
NM_001395413.1(POR):c.390C>T (p.Asn130=) rs181837747 0.00049
NM_001395413.1(POR):c.1516C>T (p.Arg506Cys) rs374141883 0.00048
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=) rs34412477 0.00047
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser) rs776989258 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_182977.3(NNT):c.1817T>C (p.Val606Ala) rs139379760 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_001395413.1(POR):c.898C>T (p.Leu300Phe) rs201649877 0.00042
NM_182977.3(NNT):c.1424C>T (p.Thr475Met) rs141791856 0.00042
NM_000102.3(CYP17A1):c.-166G>C rs58519757 0.00041
NM_000529.2(MC2R):c.795C>T (p.Ile265=) rs141349908 0.00041
NM_000497.4(CYP11B1):c.*614C>T rs772616356 0.00040
NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro) rs200005406 0.00039
NM_015665.6(AAAS):c.1301G>A (p.Arg434Gln) rs112579822 0.00039
NM_000102.4(CYP17A1):c.753+13G>A rs201956379 0.00036
NM_006440.5(TXNRD2):c.650C>A (p.Ser217Tyr) rs201913959 0.00036
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=) rs150892928 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_013335.4(GMPPA):c.1150A>G (p.Ile384Val) rs370710427 0.00033
NM_000102.4(CYP17A1):c.298-11G>C rs188885755 0.00031
NM_000349.3(STAR):c.-70G>T rs370257148 0.00031
NM_015665.6(AAAS):c.638G>C (p.Cys213Ser) rs144873582 0.00031
NM_015665.6(AAAS):c.63C>G (p.His21Gln) rs200408293 0.00030
NM_000349.3(STAR):c.*1543C>A rs748527738 0.00029
NM_000349.3(STAR):c.*187T>C rs779430429 0.00029
NM_001379228.1(MRAP):c.219G>A (p.Lys73=) rs201238667 0.00029
NM_001395413.1(POR):c.1512C>T (p.Gly504=) rs370823127 0.00029
NM_013335.4(GMPPA):c.466G>A (p.Val156Ile) rs138077680 0.00028
NM_015665.6(AAAS):c.1416+8C>T rs370325323 0.00027
NM_000529.2(MC2R):c.537G>A (p.Thr179=) rs137893541 0.00025
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_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_001395413.1(POR):c.1482G>T (p.Leu494=) rs370326231 0.00023
NM_006440.5(TXNRD2):c.77T>G (p.Val26Gly) rs925920723 0.00023
NM_000529.2(MC2R):c.*1870A>G rs142781228 0.00021
NM_001395413.1(POR):c.*218C>T rs539326245 0.00021
NM_001395413.1(POR):c.735C>T (p.Tyr245=) rs201786397 0.00021
NM_000497.4(CYP11B1):c.1016C>T (p.Ala339Val) rs193922536 0.00019
NM_001395413.1(POR):c.*178C>T rs535637875 0.00019
NM_015665.6(AAAS):c.996+12C>T rs200312077 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_001379228.1(MRAP):c.271C>A (p.Gln91Lys) rs376465589 0.00017
NM_001395413.1(POR):c.180-10T>C rs374111607 0.00017
NM_000497.4(CYP11B1):c.375C>G (p.His125Gln) rs201137503 0.00016
NM_000500.9(CYP21A2):c.1099C>T (p.Arg367Cys) rs758658540 0.00016
NM_000529.2(MC2R):c.-129+10T>C rs750975919 0.00016
NM_000529.2(MC2R):c.21G>A (p.Ser7=) rs371151390 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_001395413.1(POR):c.841C>A (p.Pro281Thr) rs72557937 0.00016
NM_006440.5(TXNRD2):c.2T>C (p.Met1Thr) rs749057584 0.00016
NM_006440.5(TXNRD2):c.591+1G>C rs200610775 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_000529.2(MC2R):c.435C>T (p.Arg145=) rs369830440 0.00015
NM_001395413.1(POR):c.793C>T (p.Arg265Trp) rs200471958 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_001395413.1(POR):c.1255T>G (p.Trp419Gly) rs536353066 0.00014
NM_001395413.1(POR):c.1700G>A (p.Arg567His) rs372955296 0.00014
NM_001395413.1(POR):c.2009G>A (p.Arg670His) rs376693603 0.00014
NM_006440.5(TXNRD2):c.1036C>T (p.Arg346Trp) rs61736941 0.00014
NM_015665.6(AAAS):c.1070C>T (p.Ser357Phe) rs368094339 0.00014
NM_015665.6(AAAS):c.1244T>C (p.Met415Thr) rs200871966 0.00014
NM_000198.4(HSD3B2):c.308-8G>A rs371712928 0.00013
NM_001379228.1(MRAP):c.486C>G (p.Pro162=) rs146788457 0.00013
NM_001395413.1(POR):c.391G>A (p.Ala131Thr) rs201365892 0.00013
NM_000529.2(MC2R):c.*366G>T rs768500810 0.00012
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_000500.9(CYP21A2):c.371C>T (p.Thr124Ile) rs566065375 0.00011
NM_000529.2(MC2R):c.*673C>T rs1039130161 0.00011
NM_000529.2(MC2R):c.377C>T (p.Ala126Val) rs368669544 0.00011
NM_001395413.1(POR):c.1419G>A (p.Ala473=) rs782722572 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_013335.4(GMPPA):c.958C>T (p.Arg320Trp) rs549821547 0.00011
NM_000497.4(CYP11B1):c.*1209C>T rs757505651 0.00010
NM_000500.9(CYP21A2):c.913G>A (p.Val305Met) rs151344505 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_000102.4(CYP17A1):c.108G>A (p.Leu36=) rs112892739 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_000529.2(MC2R):c.*911A>C rs886053643 0.00009
NM_001395413.1(POR):c.1806+7C>T rs72557951 0.00009
NM_001395413.1(POR):c.1933G>A (p.Asp645Asn) rs372930296 0.00009
NM_001395413.1(POR):c.357+14G>A rs372941705 0.00009
NM_001395413.1(POR):c.571C>T (p.Arg191Trp) rs782025961 0.00009
NM_006440.5(TXNRD2):c.745C>T (p.Arg249Cys) rs557142042 0.00009
NM_013335.4(GMPPA):c.108G>C (p.Met36Ile) rs745438072 0.00009
NM_013335.4(GMPPA):c.877G>A (p.Ala293Thr) rs151043830 0.00009
NM_015665.6(AAAS):c.843C>G (p.Pro281=) rs145196232 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_000497.4(CYP11B1):c.538G>A (p.Ala180Thr) rs140123041 0.00008
NM_001395413.1(POR):c.1085C>T (p.Pro362Leu) rs373022822 0.00008
NM_001395413.1(POR):c.1115C>T (p.Thr372Ile) rs782402961 0.00008
NM_001395413.1(POR):c.1944T>G (p.Ala648=) rs370865328 0.00008
NM_006440.5(TXNRD2):c.1030G>T (p.Asp344Tyr) rs373839226 0.00008
NM_015665.6(AAAS):c.308T>C (p.Val103Ala) rs201692749 0.00008
NM_000198.4(HSD3B2):c.628A>G (p.Ile210Val) rs587741317 0.00007
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_001395413.1(POR):c.1966G>A (p.Ala656Thr) rs373737641 0.00007
NM_006440.5(TXNRD2):c.175G>A (p.Ala59Thr) rs752863555 0.00007
NM_015665.6(AAAS):c.333C>T (p.Ser111=) rs146770218 0.00007
NM_015665.6(AAAS):c.939C>T (p.Val313=) rs79881935 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.*121C>A rs886045198 0.00006
NM_000198.4(HSD3B2):c.*177C>T rs886045199 0.00006
NM_000349.3(STAR):c.*93C>T rs776003335 0.00006
NM_000497.4(CYP11B1):c.*857T>C rs370725779 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_000529.2(MC2R):c.*1274T>A rs886053623 0.00006
NM_000529.2(MC2R):c.*216G>A rs184146485 0.00006
NM_000529.2(MC2R):c.*406C>A rs553257738 0.00006
NM_000529.2(MC2R):c.808G>A (p.Val270Ile) rs769721256 0.00006
NM_001395413.1(POR):c.*33C>T rs200310098 0.00006
NM_001395413.1(POR):c.1207C>T (p.Arg403Cys) rs202243657 0.00006
NM_001395413.1(POR):c.1465G>A (p.Val489Met) rs377451454 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_000349.3(STAR):c.563G>A (p.Arg188His) rs61736315 0.00005
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys) rs132630327 0.00005
NM_000497.4(CYP11B1):c.*670A>C rs879537131 0.00005
NM_000497.4(CYP11B1):c.457G>A (p.Ala153Thr) rs200151403 0.00005
NM_000500.9(CYP21A2):c.939+5G>A rs557564791 0.00005
NM_001379228.1(MRAP):c.106+15G>C rs746170274 0.00005
NM_001395413.1(POR):c.*21C>A rs782245884 0.00005
NM_001395413.1(POR):c.137A>G (p.Lys46Arg) rs782289780 0.00005
NM_001395413.1(POR):c.1444G>A (p.Ala482Thr) rs72557947 0.00005
NM_001395413.1(POR):c.1603A>C (p.Thr535Pro) rs782814705 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_006440.5(TXNRD2):c.1348-2A>G rs768600057 0.00005
NM_013335.4(GMPPA):c.583C>T (p.Arg195Trp) rs147832114 0.00005
NM_015665.6(AAAS):c.772C>T (p.Arg258Trp) rs182489063 0.00005
NM_000102.4(CYP17A1):c.1227G>A (p.Pro409=) rs779167465 0.00004
NM_000102.4(CYP17A1):c.522G>A (p.Ala174=) rs369081864 0.00004
NM_000102.4(CYP17A1):c.764G>A (p.Arg255Gln) rs567775035 0.00004
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_000349.3(STAR):c.488A>T (p.Asp163Val) rs201579617 0.00004
NM_000497.4(CYP11B1):c.*1435T>C rs551125657 0.00004
NM_000497.4(CYP11B1):c.1122-12C>T rs193922537 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_000529.2(MC2R):c.*1039G>A rs966371778 0.00004
NM_000529.2(MC2R):c.410G>A (p.Arg137Gln) rs1208417750 0.00004
NM_001395413.1(POR):c.1389+15T>A rs782664345 0.00004
NM_001395413.1(POR):c.1418C>T (p.Ala473Val) rs782156085 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.1640G>A (p.Arg547Gln) rs1320059073 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.1702C>T (p.Arg568Cys) rs782247167 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.34G>A (p.Val12Met) rs369118442 0.00004
NM_001395413.1(POR):c.938+10G>A rs781980999 0.00004
NM_006440.5(TXNRD2):c.139G>A (p.Gly47Arg) rs759298418 0.00004
NM_006440.5(TXNRD2):c.760C>T (p.Arg254Cys) rs183950022 0.00004
NM_013335.4(GMPPA):c.250C>A (p.Gln84Lys) rs767718283 0.00004
NM_013335.4(GMPPA):c.280G>T (p.Gly94Cys) rs753112469 0.00004
NM_015665.6(AAAS):c.1498C>T (p.Arg500Trp) rs886049649 0.00004
NM_000102.4(CYP17A1):c.1019G>A (p.Arg340His) rs765987481 0.00003
NM_000102.4(CYP17A1):c.702C>T (p.Ser234=) rs146311005 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_000500.9(CYP21A2):c.143A>G (p.Tyr48Cys) rs566306310 0.00003
NM_000500.9(CYP21A2):c.293-7C>G rs193922544 0.00003
NM_000500.9(CYP21A2):c.738+75C>T rs1463196531 0.00003
NM_000529.2(MC2R):c.*1092G>A rs886053625 0.00003
NM_000529.2(MC2R):c.*223T>C rs369247895 0.00003
NM_000529.2(MC2R):c.*390A>G rs749097541 0.00003
NM_000529.2(MC2R):c.*434T>C rs886053647 0.00003
NM_000529.2(MC2R):c.*848A>T rs766857800 0.00003
NM_000529.2(MC2R):c.*971G>C rs1317072974 0.00003
NM_001379228.1(MRAP):c.*197T>C rs1001304261 0.00003
NM_001395413.1(POR):c.1176C>T (p.Tyr392=) rs782192787 0.00003
NM_001395413.1(POR):c.1270C>T (p.Arg424Trp) rs782197760 0.00003
NM_001395413.1(POR):c.162C>G (p.Phe54Leu) rs927062544 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.205T>C (p.Phe69Leu) rs782107314 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_006440.5(TXNRD2):c.1037G>A (p.Arg346Gln) rs201349663 0.00003
NM_015665.6(AAAS):c.307+13C>T rs761242924 0.00003
NM_015665.6(AAAS):c.362C>T (p.Ala121Val) rs201451157 0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_015665.6(AAAS):c.667G>C (p.Asp223His) rs141013947 0.00003
NM_015665.6(AAAS):c.819T>C (p.Asp273=) rs149487112 0.00003
NM_015665.6(AAAS):c.894C>T (p.Asp298=) rs199636211 0.00003
NM_000102.4(CYP17A1):c.483C>T (p.Asn161=) rs767962487 0.00002
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_000497.4(CYP11B1):c.412C>T (p.Arg138Cys) rs764251434 0.00002
NM_000497.4(CYP11B1):c.623G>A (p.Arg208Gln) rs200559974 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.1389+10G>A rs782345141 0.00002
NM_001395413.1(POR):c.1396C>G (p.Pro466Ala) rs558340290 0.00002
NM_001395413.1(POR):c.150A>C (p.Glu50Asp) rs370701548 0.00002
NM_001395413.1(POR):c.157G>A (p.Glu53Lys) rs782151568 0.00002
NM_001395413.1(POR):c.1926C>T (p.Thr642=) rs557596726 0.00002
NM_001395413.1(POR):c.1973C>T (p.Ala658Val) rs782753228 0.00002
NM_001395413.1(POR):c.460G>A (p.Asp154Asn) rs782422122 0.00002
NM_001395413.1(POR):c.572G>A (p.Arg191Gln) rs769916309 0.00002
NM_001395413.1(POR):c.772G>A (p.Val258Met) rs1371752607 0.00002
NM_001395413.1(POR):c.892C>T (p.Arg298Cys) rs200097755 0.00002
NM_001395413.1(POR):c.893G>A (p.Arg298His) rs782125318 0.00002
NM_001395413.1(POR):c.938G>C (p.Arg313Thr) rs782572970 0.00002
NM_006440.5(TXNRD2):c.417del (p.Asn140fs) rs780054798 0.00002
NM_013335.4(GMPPA):c.1046G>A (p.Arg349His) rs568570865 0.00002
NM_013335.4(GMPPA):c.535A>T (p.Ile179Phe) rs1251641134 0.00002
NM_015665.6(AAAS):c.663C>G (p.Thr221=) rs886049650 0.00002
NM_015665.6(AAAS):c.808C>T (p.Arg270Trp) rs779681475 0.00002
NM_178817.4(MRAP):c.-156C>T rs886057001 0.00002
NM_178817.4(MRAP):c.-157G>A rs886057000 0.00002
NM_000102.4(CYP17A1):c.*130C>T rs886046665 0.00001
NM_000102.4(CYP17A1):c.235C>G (p.His79Asp) rs370973897 0.00001
NM_000103.4(CYP19A1):c.1142A>T (p.Asp381Val) rs773015145 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.385G>A (p.Gly129Arg) rs587628683 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_000198.4(HSD3B2):c.672T>C (p.Tyr224=) rs116728039 0.00001
NM_000349.2(STAR):c.-152G>A rs1196346446 0.00001
NM_000349.3(STAR):c.*550A>C rs1236012022 0.00001
NM_000349.3(STAR):c.792G>A (p.Gln264=) rs1358166887 0.00001
NM_000475.5(NR0B1):c.1121G>A (p.Ser374Asn) rs1213986618 0.00001
NM_000475.5(NR0B1):c.59C>G (p.Ala20Gly) rs745852247 0.00001
NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr) rs761762294 0.00001
NM_000475.5(NR0B1):c.764G>T (p.Cys255Phe) rs1001710892 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.1145T>G (p.Leu382Arg) rs1412048304 0.00001
NM_000497.4(CYP11B1):c.1200+11C>T rs753651666 0.00001
NM_000497.4(CYP11B1):c.187G>C (p.Asp63His) rs5282 0.00001
NM_000497.4(CYP11B1):c.206A>G (p.His69Arg) rs747287245 0.00001
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile) rs1489638195 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.374A>G (p.His125Arg) rs757389720 0.00001
NM_000497.4(CYP11B1):c.413G>A (p.Arg138His) rs193922540 0.00001
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln) rs267601810 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_000500.9(CYP21A2):c.1070G>A (p.Arg357Gln) rs574370139 0.00001
NM_000500.9(CYP21A2):c.1405A>G (p.Ser469Gly) rs1436972952 0.00001
NM_000500.9(CYP21A2):c.293-131_293-129dup rs1219292422 0.00001
NM_000500.9(CYP21A2):c.373C>T (p.Arg125Cys) rs371412889 0.00001
NM_000500.9(CYP21A2):c.485A>G (p.Glu162Gly) rs1229809778 0.00001
NM_000500.9(CYP21A2):c.49C>T (p.Arg17Cys) rs757608533 0.00001
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) rs12530380 0.00001
NM_000500.9(CYP21A2):c.919T>G (p.Phe307Val) rs746303150 0.00001
NM_000529.2(MC2R):c.*1856T>C rs935635102 0.00001
NM_000529.2(MC2R):c.*2409A>G rs893851558 0.00001
NM_000529.2(MC2R):c.*2427T>C rs2045235792 0.00001
NM_000529.2(MC2R):c.*27C>T rs886053650 0.00001
NM_000529.2(MC2R):c.*608A>G rs886053645 0.00001
NM_000529.2(MC2R):c.*791A>G rs754283731 0.00001
NM_000529.2(MC2R):c.403G>A (p.Ala135Thr) rs764887426 0.00001
NM_001379228.1(MRAP):c.*14T>A rs201141721 0.00001
NM_001379228.1(MRAP):c.*181G>A rs1601112595 0.00001
NM_001379228.1(MRAP):c.126C>T (p.Phe42=) rs769898813 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.1057+3G>A rs1247013812 0.00001
NM_001395413.1(POR):c.1152C>T (p.Asn384=) rs1554558784 0.00001
NM_001395413.1(POR):c.1222T>G (p.Ser408Ala) rs781842238 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.1526T>C (p.Val509Ala) rs1789403650 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.163A>G (p.Thr55Ala) rs781793249 0.00001
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu) rs370645073 0.00001
NM_001395413.1(POR):c.1726C>T (p.Arg576Trp) rs868927799 0.00001
NM_001395413.1(POR):c.182C>T (p.Thr61Ile) rs868909994 0.00001
NM_001395413.1(POR):c.1959G>T (p.Met653Ile) rs377283521 0.00001
NM_001395413.1(POR):c.1962G>C (p.Glu654Asp) rs371420725 0.00001
NM_001395413.1(POR):c.1991A>C (p.Lys664Thr) rs782588164 0.00001
NM_001395413.1(POR):c.251A>G (p.Tyr84Cys) rs1047228872 0.00001
NM_001395413.1(POR):c.301G>A (p.Asp101Asn) rs958254199 0.00001
NM_001395413.1(POR):c.484G>T (p.Asp162Tyr) rs1003447223 0.00001
NM_001395413.1(POR):c.754G>A (p.Asp252Asn) rs41299514 0.00001
NM_001395413.1(POR):c.764C>T (p.Ala255Val) rs367782552 0.00001
NM_001395413.1(POR):c.821+15C>T rs540000393 0.00001
NM_001395413.1(POR):c.821+2dup rs886062440 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
NM_001395413.1(POR):c.967T>C (p.Tyr323His) rs782419727 0.00001
NM_006440.5(TXNRD2):c.46C>T (p.Arg16Trp) rs777650793 0.00001
NM_006440.5(TXNRD2):c.529A>G (p.Ile177Val) rs373970291 0.00001
NM_013335.4(GMPPA):c.1052C>T (p.Ala351Val) rs750437487 0.00001
NM_013335.4(GMPPA):c.799G>A (p.Asp267Asn) rs1382726525 0.00001
NM_015665.6(AAAS):c.11T>C (p.Leu4Pro) rs886049652 0.00001
NM_015665.6(AAAS):c.1229G>A (p.Arg410His) rs768786904 0.00001
NM_015665.6(AAAS):c.124-4A>G rs886049651 0.00001
NM_015665.6(AAAS):c.1300C>T (p.Arg434Ter) rs751369041 0.00001
NM_015665.6(AAAS):c.1417-14T>G rs748004231 0.00001
NM_015665.6(AAAS):c.1448C>T (p.Pro483Leu) rs751967235 0.00001
NM_015665.6(AAAS):c.721C>T (p.His241Tyr) rs1944356188 0.00001
NM_015665.6(AAAS):c.847C>T (p.Pro283Ser) rs1745022731 0.00001
NM_015665.6(AAAS):c.981A>G (p.Leu327=) rs1174765635 0.00001
NM_015665.6(AAAS):c.988C>T (p.Arg330Cys) rs560069464 0.00001
NM_182977.3(NNT):c.1880C>T (p.Ser627Leu) rs41271081 0.00001
NM_182977.3(NNT):c.2778C>A (p.Ser926Arg) rs1451092520 0.00001
NC_000002.11:g.(?_218999525)_(220435954_?)dup
NC_000007.14:g.75915138G>C rs535395573
NC_000023.11:g.(?_30304559)_(30309383_?)dup
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.102G>T (p.Leu34=) rs752346898
NM_000102.4(CYP17A1):c.1096G>T (p.Val366Leu)
NM_000102.4(CYP17A1):c.1112T>C (p.Ile371Thr)
NM_000102.4(CYP17A1):c.1134C>T (p.Asp378=) rs772903405
NM_000102.4(CYP17A1):c.1216T>G (p.Trp406Gly)
NM_000102.4(CYP17A1):c.1363A>G (p.Ile455Val) rs138630127
NM_000102.4(CYP17A1):c.1414C>A (p.Gln472Lys) rs746813353
NM_000102.4(CYP17A1):c.1488C>T (p.Arg496=) rs539435111
NM_000102.4(CYP17A1):c.186C>T (p.Pro62=) rs1844174531
NM_000102.4(CYP17A1):c.225T>G (p.Ile75Met) rs931528592
NM_000102.4(CYP17A1):c.235C>A (p.His79Asn) rs370973897
NM_000102.4(CYP17A1):c.350C>G (p.Ser117Cys)
NM_000102.4(CYP17A1):c.384G>A (p.Ala128=) rs1844146929
NM_000102.4(CYP17A1):c.412G>A (p.Gly138Ser) rs1485258085
NM_000102.4(CYP17A1):c.601T>A (p.Tyr201Asn) rs104894150
NM_000102.4(CYP17A1):c.671T>C (p.Phe224Ser) rs202092158
NM_000198.4(HSD3B2):c.*9T>A rs1651924447
NM_000198.4(HSD3B2):c.1055_1056delinsAA (p.Thr352Lys) rs1651920667
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=) rs781770416
NM_000198.4(HSD3B2):c.240C>A (p.His80Gln)
NM_000198.4(HSD3B2):c.295G>T (p.Val99Phe)
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.471C>G (p.Ser157Arg)
NM_000198.4(HSD3B2):c.563A>G (p.Tyr188Cys)
NM_000198.4(HSD3B2):c.611C>A (p.Ala204Asp)
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.-16C>T rs779983468
NM_000349.3(STAR):c.120G>A (p.Leu40=) rs138786388
NM_000349.3(STAR):c.149_157del (p.Asn50_Val52del) rs1554503018
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.161G>T (p.Arg54Leu) rs200245763
NM_000349.3(STAR):c.289AAG[1] (p.Lys98del) rs146872295
NM_000349.3(STAR):c.349G>A (p.Gly117Ser)
NM_000349.3(STAR):c.466-11T>A rs1053284504
NM_000349.3(STAR):c.484A>C (p.Lys162Gln) rs886062905
NM_000349.3(STAR):c.574C>T (p.Arg192Cys) rs752311616
NM_000349.3(STAR):c.727C>T (p.Leu243Phe)
NM_000349.3(STAR):c.814C>G (p.Arg272Gly)
NM_000475.5(NR0B1):c.1022A>G (p.His341Arg)
NM_000475.5(NR0B1):c.1082T>G (p.Ile361Ser)
NM_000475.5(NR0B1):c.1103G>T (p.Cys368Phe)
NM_000475.5(NR0B1):c.1157T>G (p.Leu386Arg)
NM_000475.5(NR0B1):c.129C>A (p.Cys43Ter)
NM_000475.5(NR0B1):c.1346T>C (p.Phe449Ser)
NM_000475.5(NR0B1):c.1354A>G (p.Ile452Val)
NM_000475.5(NR0B1):c.194G>T (p.Arg65Leu) rs1926600775
NM_000475.5(NR0B1):c.227A>G (p.Gln76Arg)
NM_000475.5(NR0B1):c.229G>C (p.Gly77Arg)
NM_000475.5(NR0B1):c.307_308delinsTT (p.Pro103Leu) rs1569269085
NM_000475.5(NR0B1):c.308C>G (p.Pro103Arg)
NM_000475.5(NR0B1):c.389A>G (p.Tyr130Cys)
NM_000475.5(NR0B1):c.395G>A (p.Cys132Tyr)
NM_000475.5(NR0B1):c.447G>C (p.Leu149Phe)
NM_000475.5(NR0B1):c.521G>C (p.Arg174Pro)
NM_000475.5(NR0B1):c.536A>T (p.Gln179Leu)
NM_000475.5(NR0B1):c.563C>T (p.Pro188Leu)
NM_000475.5(NR0B1):c.568G>C (p.Gly190Arg)
NM_000475.5(NR0B1):c.593_594delinsAA (p.Arg198Gln) rs1569268891
NM_000475.5(NR0B1):c.607G>A (p.Gly203Ser)
NM_000475.5(NR0B1):c.667G>A (p.Ala223Thr)
NM_000475.5(NR0B1):c.698C>T (p.Ala233Val)
NM_000475.5(NR0B1):c.740C>A (p.Ala247Glu)
NM_000475.5(NR0B1):c.785T>G (p.Leu262Arg) rs1926571373
NM_000475.5(NR0B1):c.797T>C (p.Leu266Pro) rs2147006592
NM_000475.5(NR0B1):c.806T>G (p.Val269Gly) rs1555973045
NM_000475.5(NR0B1):c.881T>C (p.Leu294Pro) rs2147006470
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro) rs104894907
NM_000475.5(NR0B1):c.899C>T (p.Ala300Val)
NM_000475.5(NR0B1):c.8_9delinsAA (p.Gly3Glu)
NM_000475.5(NR0B1):c.919G>C (p.Glu307Gln)
NM_000475.5(NR0B1):c.981G>C (p.Glu327Asp)
NM_000475.5(NR0B1):c.989G>A (p.Gly330Asp)
NM_000497.4(CYP11B1):c.*1012A>C rs1816847260
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.*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.*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.1015_1016delinsAT (p.Ala339Ile) rs193922535
NM_000497.4(CYP11B1):c.1027G>A (p.Glu343Lys) rs1554652796
NM_000497.4(CYP11B1):c.1112A>G (p.Glu371Gly) rs368944209
NM_000497.4(CYP11B1):c.1124T>C (p.Leu375Pro)
NM_000497.4(CYP11B1):c.1157C>A (p.Ala386Glu) rs4541
NM_000497.4(CYP11B1):c.1205T>C (p.Leu402Ser) rs886062738
NM_000497.4(CYP11B1):c.1240C>G (p.Pro414Ala)
NM_000497.4(CYP11B1):c.1280G>A (p.Arg427His) rs754432887
NM_000497.4(CYP11B1):c.1385del (p.Leu462fs) rs2130266058
NM_000497.4(CYP11B1):c.1486del (p.Leu496fs) rs1554652528
NM_000497.4(CYP11B1):c.1488C>T (p.Leu496=) rs776766470
NM_000497.4(CYP11B1):c.26T>C (p.Val9Ala) rs1554653718
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.399T>A (p.Asn133Lys)
NM_000497.4(CYP11B1):c.446T>C (p.Leu149Pro) rs1554653200
NM_000497.4(CYP11B1):c.450G>A (p.Ser150=) rs778556211
NM_000497.4(CYP11B1):c.473T>C (p.Leu158Pro) rs1554653191
NM_000497.4(CYP11B1):c.494C>A (p.Ala165Asp) rs1554653185
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.606G>A (p.Leu202=) rs61751154
NM_000497.4(CYP11B1):c.623G>C (p.Arg208Pro)
NM_000497.4(CYP11B1):c.632T>C (p.Leu211Pro) rs368125568
NM_000497.4(CYP11B1):c.632_640del (p.Leu211_Gly213del) rs1554653044
NM_000497.4(CYP11B1):c.746G>A (p.Ser249Asn) rs1816964007
NM_000497.4(CYP11B1):c.748C>A (p.Pro250Thr)
NM_000497.4(CYP11B1):c.748C>T (p.Pro250Ser) rs753471858
NM_000497.4(CYP11B1):c.842G>A (p.Ser281Asn)
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.930A>T (p.Glu310Asp)
NM_000497.4(CYP11B1):c.954+31G>A rs2130272862
NM_000497.4(CYP11B1):c.954+9G>C rs6411
NM_000497.4(CYP11B1):c.955-15_955-1del rs1554652823
NM_000500.9(CYP21A2):c.104C>T (p.Pro35Leu)
NM_000500.9(CYP21A2):c.1064G>C (p.Arg355Pro) rs760216630
NM_000500.9(CYP21A2):c.1070G>C (p.Arg357Pro) rs574370139
NM_000500.9(CYP21A2):c.1087G>C (p.Ala363Pro) rs2151875445
NM_000500.9(CYP21A2):c.1109G>C (p.Arg370Pro) rs376421504
NM_000500.9(CYP21A2):c.1132G>T (p.Asp378Tyr) rs528524868
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.1214T>C (p.Phe405Ser) rs2151876037
NM_000500.9(CYP21A2):c.1223-3C>G rs6460
NM_000500.9(CYP21A2):c.1298C>G (p.Pro433Arg) rs751456004
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.1439G>T (p.Arg480Leu) rs184649564
NM_000500.9(CYP21A2):c.1447C>A (p.Pro483Thr) rs776989258
NM_000500.9(CYP21A2):c.268G>T (p.Ala90Ser) rs1185350916
NM_000500.9(CYP21A2):c.292+3A>G rs752771213
NM_000500.9(CYP21A2):c.293-100_293-99insG rs1582301904
NM_000500.9(CYP21A2):c.37C>A (p.Leu13Met)
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.503T>C (p.Leu168Pro)
NM_000500.9(CYP21A2):c.50G>T (p.Arg17Leu) rs1185695713
NM_000500.9(CYP21A2):c.540C>G (p.Asp180Glu) rs777946906
NM_000500.9(CYP21A2):c.724C>G (p.Leu242Val) rs1582306855
NM_000500.9(CYP21A2):c.738+12_738+13inv
NM_000500.9(CYP21A2):c.738G>A (p.Lys246=) rs1441177352
NM_000500.9(CYP21A2):c.739-74G>A rs1582307366
NM_000500.9(CYP21A2):c.740del (p.Glu247fs) rs750499484
NM_000500.9(CYP21A2):c.835G>A (p.Glu279Lys) rs2151874388
NM_000500.9(CYP21A2):c.856G>T (p.Ala286Ser) rs570785206
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_000529.2(MC2R):c.*1010T>A rs886053633
NM_000529.2(MC2R):c.*1012T>A rs886053632
NM_000529.2(MC2R):c.*1035G>A rs2045247559
NM_000529.2(MC2R):c.*1043G>A rs1007872828
NM_000529.2(MC2R):c.*1068A>G rs1053713890
NM_000529.2(MC2R):c.*1265A>C rs886053624
NM_000529.2(MC2R):c.*1469A>G rs1258255213
NM_000529.2(MC2R):c.*1667G>A rs886053621
NM_000529.2(MC2R):c.*1917C>A rs1005290429
NM_000529.2(MC2R):c.*2572G>A rs2045234534
NM_000529.2(MC2R):c.*376G>C rs886053649
NM_000529.2(MC2R):c.*470G>A rs886053646
NM_000529.2(MC2R):c.*471C>A rs142527936
NM_000529.2(MC2R):c.*862T>C rs886053644
NM_000529.2(MC2R):c.*957C>G rs1053257976
NM_000529.2(MC2R):c.-117A>T rs886053652
NM_000529.2(MC2R):c.-48T>C rs559902243
NM_000529.2(MC2R):c.107T>A (p.Ile36Asn)
NM_000529.2(MC2R):c.349T>C (p.Ser117Pro)
NM_000529.2(MC2R):c.409C>A (p.Arg137=) rs104894660
NM_000529.2(MC2R):c.524T>A (p.Val175Glu) rs886053651
NM_000529.2(MC2R):c.569T>G (p.Leu190Arg)
NM_000529.2(MC2R):c.666C>G (p.Thr222=) rs1401738616
NM_000781.3(CYP11A1):c.707C>A (p.Ala236Asp)
NM_001367562.2(POR):c.*378G>A rs1554559685
NM_001379228.1(MRAP):c.107-5C>T rs373512270
NM_001379228.1(MRAP):c.206+13G>C rs749474036
NM_001379228.1(MRAP):c.451G>A (p.Gly151Ser) rs773835535
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.*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.1048A>C (p.Asn350His)
NM_001395413.1(POR):c.1092T>A (p.Pro364=) rs782729580
NM_001395413.1(POR):c.1103G>A (p.Arg368His)
NM_001395413.1(POR):c.1129A>G (p.Ile377Val)
NM_001395413.1(POR):c.1169C>T (p.Ala390Val)
NM_001395413.1(POR):c.1181C>T (p.Ser394Leu)
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.1307C>T (p.Ser436Phe) rs1789345072
NM_001395413.1(POR):c.1349G>A (p.Arg450His)
NM_001395413.1(POR):c.1375G>C (p.Ala459Pro) rs72557936
NM_001395413.1(POR):c.138G>C (p.Lys46Asn)
NM_001395413.1(POR):c.1405G>C (p.Val469Leu) rs72557946
NM_001395413.1(POR):c.1446_1447inv (p.Gly483Ser)
NM_001395413.1(POR):c.1483C>T (p.Arg495Trp)
NM_001395413.1(POR):c.1501G>A (p.Gly501Arg)
NM_001395413.1(POR):c.1504G>A (p.Glu502Lys) rs377159530
NM_001395413.1(POR):c.1513G>A (p.Gly505Ser) rs547817208
NM_001395413.1(POR):c.1541G>A (p.Arg514His)
NM_001395413.1(POR):c.1541G>C (p.Arg514Pro)
NM_001395413.1(POR):c.1577C>T (p.Thr526Met) rs782248163
NM_001395413.1(POR):c.1584CAT[1] (p.Ile529del)
NM_001395413.1(POR):c.1600G>A (p.Gly534Ser) rs569673150
NM_001395413.1(POR):c.1600G>C (p.Gly534Arg) rs569673150
NM_001395413.1(POR):c.1713G>C (p.Glu571Asp) rs1414093729
NM_001395413.1(POR):c.1714G>A (p.Asp572Asn)
NM_001395413.1(POR):c.1721T>C (p.Leu574Pro) rs56256515
NM_001395413.1(POR):c.1776C>G (p.Asn592Lys)
NM_001395413.1(POR):c.1813G>A (p.Val605Ile)
NM_001395413.1(POR):c.1840G>A (p.Glu614Lys) rs771477130
NM_001395413.1(POR):c.1851G>T (p.Trp617Cys)
NM_001395413.1(POR):c.1923C>A (p.Asn641Lys) rs781793669
NM_001395413.1(POR):c.1965C>G (p.His655Gln) rs782143954
NM_001395413.1(POR):c.1992del (p.Lys664fs)
NM_001395413.1(POR):c.2002A>G (p.Lys668Glu)
NM_001395413.1(POR):c.207T>G (p.Phe69Leu)
NM_001395413.1(POR):c.226A>G (p.Thr76Ala) rs1788485288
NM_001395413.1(POR):c.229-3T>C
NM_001395413.1(POR):c.236A>T (p.Asn79Ile)
NM_001395413.1(POR):c.263C>T (p.Thr88Met)
NM_001395413.1(POR):c.272C>T (p.Ala91Val)
NM_001395413.1(POR):c.295T>C (p.Ser99Pro)
NM_001395413.1(POR):c.304G>A (p.Ala102Thr)
NM_001395413.1(POR):c.310C>T (p.Arg104Cys)
NM_001395413.1(POR):c.323G>A (p.Arg108Gln)
NM_001395413.1(POR):c.369C>G (p.Ser123Arg) rs2116587581
NM_001395413.1(POR):c.371G>A (p.Ser124Asn)
NM_001395413.1(POR):c.385G>A (p.Asp129Asn) rs554865831
NM_001395413.1(POR):c.426G>C (p.Glu142Asp)
NM_001395413.1(POR):c.44C>T (p.Ala15Val)
NM_001395413.1(POR):c.481G>A (p.Val161Met) rs200112691
NM_001395413.1(POR):c.485A>C (p.Asp162Ala)
NM_001395413.1(POR):c.504C>G (p.Phe168Leu) rs372715546
NM_001395413.1(POR):c.507G>A (p.Ala169=)
NM_001395413.1(POR):c.511T>A (p.Phe171Ile)
NM_001395413.1(POR):c.514G>A (p.Gly172Ser)
NM_001395413.1(POR):c.529A>G (p.Thr177Ala)
NM_001395413.1(POR):c.530C>G (p.Thr177Ser) rs2116593920
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.579G>C (p.Glu193Asp)
NM_001395413.1(POR):c.5G>C (p.Gly2Ala)
NM_001395413.1(POR):c.604G>C (p.Glu202Gln) rs1585129186
NM_001395413.1(POR):c.615G>A (p.Leu205=) rs782714107
NM_001395413.1(POR):c.625G>C (p.Asp209His) rs374707345
NM_001395413.1(POR):c.636GGA[2] (p.Glu214del) rs782434696
NM_001395413.1(POR):c.646T>G (p.Phe216Val) rs1789043381
NM_001395413.1(POR):c.779T>G (p.Met260Arg)
NM_001395413.1(POR):c.77C>T (p.Thr26Met)
NM_001395413.1(POR):c.804C>A (p.Ser268Arg) rs201598971
NM_001395413.1(POR):c.808G>A (p.Glu270Lys)
NM_001395413.1(POR):c.815A>G (p.Gln272Arg) rs201697814
NM_001395413.1(POR):c.891G>C (p.Glu297Asp)
NM_001395413.1(POR):c.939-14A>C rs886062441
NM_001395413.1(POR):c.955C>T (p.His319Tyr)
NM_001395413.1(POR):c.985G>A (p.Ala329Thr) rs1469610345
NM_005149.3(TBX19):c.210G>T (p.Met70Ile) rs1558190316
NM_005149.3(TBX19):c.477G>C (p.Leu159Phe) rs1558190989
NM_006440.5(TXNRD2):c.11T>C (p.Met4Thr) rs1429174414
NM_006440.5(TXNRD2):c.1370dup (p.Gln458fs) rs758790391
NM_006440.5(TXNRD2):c.392C>T (p.Ala131Val) rs368359642
NM_006440.5(TXNRD2):c.41_42delinsTT (p.Arg14Leu) rs2146120283
NM_013335.4(GMPPA):c.1039G>A (p.Val347Met)
NM_013335.4(GMPPA):c.1045C>T (p.Arg349Cys)
NM_013335.4(GMPPA):c.1057G>A (p.Val353Met)
NM_013335.4(GMPPA):c.1100C>A (p.Ala367Asp)
NM_013335.4(GMPPA):c.1105A>G (p.Met369Val)
NM_013335.4(GMPPA):c.1168C>T (p.Arg390Ter) rs748973371
NM_013335.4(GMPPA):c.12G>A (p.Ala4=) rs1335428636
NM_013335.4(GMPPA):c.193C>T (p.Leu65Phe)
NM_013335.4(GMPPA):c.400C>T (p.Arg134Cys)
NM_013335.4(GMPPA):c.439A>G (p.Thr147Ala) rs1186293652
NM_013335.4(GMPPA):c.467T>C (p.Val156Ala)
NM_013335.4(GMPPA):c.592T>C (p.Phe198Leu) rs773715630
NM_013335.4(GMPPA):c.872C>T (p.Pro291Leu)
NM_013335.4(GMPPA):c.905G>A (p.Gly302Asp)
NM_015665.6(AAAS):c.-84G>A rs886049653
NM_015665.6(AAAS):c.1087G>A (p.Gly363Ser)
NM_015665.6(AAAS):c.1223G>A (p.Gly408Glu)
NM_015665.6(AAAS):c.1448del (p.Pro483fs)
NM_015665.6(AAAS):c.1450C>G (p.Leu484Val) rs764298213
NM_015665.6(AAAS):c.1566C>T (p.Ser522=) rs886049648
NM_015665.6(AAAS):c.1591C>T (p.Leu531Phe) rs886049647
NM_015665.6(AAAS):c.200C>T (p.Thr67Ile) rs1114167372
NM_015665.6(AAAS):c.258T>A (p.Asp86Glu) rs749899811
NM_015665.6(AAAS):c.259G>T (p.Val87Leu) rs766985003
NM_015665.6(AAAS):c.327G>A (p.Thr109=) rs190876509
NM_015665.6(AAAS):c.56A>G (p.Tyr19Cys)
NM_015665.6(AAAS):c.649A>G (p.Ile217Val)
NM_015665.6(AAAS):c.65A>G (p.Asn22Ser) rs774899476
NM_015665.6(AAAS):c.899G>T (p.Ser300Ile)
NM_015665.6(AAAS):c.912T>G (p.Ala304=) rs138749872
NM_015665.6(AAAS):c.936-2A>G rs1565777639
NM_015665.6(AAAS):c.936-5C>T rs1944343648
NM_178817.4(MRAP):c.-151+125C>T
NM_182977.3(NNT):c.1822G>A (p.Gly608Arg) rs2111899861

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