ClinVar Miner

List of variants reported as uncertain significance for 46,XX disorder of sex development

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 522
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HGVS dbSNP
NC_000005.10:g.119452446C>T
NC_000006.12:g.118931504G>A rs760702305
NC_000007.14:g.75915138G>C
NM_000103.4(CYP19A1):c.*1019C>T rs886051274
NM_000103.4(CYP19A1):c.*1069C>T rs527275486
NM_000103.4(CYP19A1):c.*125T>C
NM_000103.4(CYP19A1):c.*1364C>T
NM_000103.4(CYP19A1):c.*1381C>T
NM_000103.4(CYP19A1):c.*1441G>A
NM_000103.4(CYP19A1):c.*1545G>T
NM_000103.4(CYP19A1):c.*1608C>T rs781782351
NM_000103.4(CYP19A1):c.*166T>A rs181721810
NM_000103.4(CYP19A1):c.*1833C>A
NM_000103.4(CYP19A1):c.*1877T>G rs886051273
NM_000103.4(CYP19A1):c.*1878T>C
NM_000103.4(CYP19A1):c.*1888A>T
NM_000103.4(CYP19A1):c.*1889A>T
NM_000103.4(CYP19A1):c.*191C>A rs190403648
NM_000103.4(CYP19A1):c.*191del rs546415613
NM_000103.4(CYP19A1):c.*2032G>A rs886051272
NM_000103.4(CYP19A1):c.*2067T>G
NM_000103.4(CYP19A1):c.*2086G>A
NM_000103.4(CYP19A1):c.*2126G>A
NM_000103.4(CYP19A1):c.*2155T>C rs865821138
NM_000103.4(CYP19A1):c.*2192T>C rs886051271
NM_000103.4(CYP19A1):c.*2257A>G rs540900346
NM_000103.4(CYP19A1):c.*2274A>G rs886051270
NM_000103.4(CYP19A1):c.*240C>A
NM_000103.4(CYP19A1):c.*2497T>C
NM_000103.4(CYP19A1):c.*2519T>C
NM_000103.4(CYP19A1):c.*2536C>T
NM_000103.4(CYP19A1):c.*2589C>A
NM_000103.4(CYP19A1):c.*2607A>G
NM_000103.4(CYP19A1):c.*2645dup rs886051269
NM_000103.4(CYP19A1):c.*483G>C rs886051276
NM_000103.4(CYP19A1):c.*638G>T rs886051275
NM_000103.4(CYP19A1):c.*646C>G
NM_000103.4(CYP19A1):c.*747G>A rs866111735
NM_000103.4(CYP19A1):c.*78G>T
NM_000103.4(CYP19A1):c.*858C>T rs555261840
NM_000103.4(CYP19A1):c.*9G>T rs373757519
NM_000103.4(CYP19A1):c.-118G>A
NM_000103.4(CYP19A1):c.-39+14572C>T rs530192973
NM_000103.4(CYP19A1):c.-39+14624_-39+14625del rs780146461
NM_000103.4(CYP19A1):c.-39+14640A>G
NM_000103.4(CYP19A1):c.-39+14646C>T
NM_000103.4(CYP19A1):c.-39+1G>A rs956997586
NM_000103.4(CYP19A1):c.1230C>T (p.Pro410=)
NM_000103.4(CYP19A1):c.1378G>A (p.Val460Met) rs372500474
NM_000103.4(CYP19A1):c.1488C>T (p.Asn496=)
NM_000103.4(CYP19A1):c.242A>G (p.Tyr81Cys)
NM_000103.4(CYP19A1):c.24G>A (p.Pro8=) rs143386224
NM_000103.4(CYP19A1):c.336C>T (p.Tyr112=)
NM_000103.4(CYP19A1):c.357A>C (p.Lys119Asn)
NM_000103.4(CYP19A1):c.465C>T (p.Pro155=) rs146495071
NM_000103.4(CYP19A1):c.49G>A (p.Val17Met) rs200111039
NM_000103.4(CYP19A1):c.501C>A (p.Ser167=) rs35900050
NM_000103.4(CYP19A1):c.629-10T>C rs781489846
NM_000103.4(CYP19A1):c.629-16dup rs750758078
NM_000103.4(CYP19A1):c.721T>A (p.Tyr241Asn)
NM_000103.4(CYP19A1):c.924T>G (p.Pro308=)
NM_000103.4(CYP19A1):c.953T>C (p.Met318Thr) rs143839949
NM_000145.3(FSHR):c.-58T>C rs886056153
NM_000145.3(FSHR):c.1330G>A (p.Ala444Thr) rs202162496
NM_000145.3(FSHR):c.1576T>C (p.Leu526=) rs138281715
NM_000145.3(FSHR):c.1596G>A (p.Met532Ile) rs757909841
NM_000145.3(FSHR):c.1831C>G (p.Leu611Val) rs886056149
NM_000145.3(FSHR):c.219G>A (p.Glu73=) rs377397067
NM_000145.3(FSHR):c.225-11T>C rs886056152
NM_000145.3(FSHR):c.24G>T (p.Leu8Phe) rs115030945
NM_000145.3(FSHR):c.399G>A (p.Lys133=) rs148815172
NM_000145.3(FSHR):c.446+10T>C rs200504733
NM_000145.3(FSHR):c.479T>C (p.Ile160Thr) rs121909659
NM_000145.3(FSHR):c.485G>A (p.Arg162Lys) rs111883853
NM_000145.3(FSHR):c.685A>G (p.Arg229Gly) rs201122960
NM_000145.3(FSHR):c.688A>G (p.Ile230Val) rs367711694
NM_000145.3(FSHR):c.786C>T (p.Val262=) rs150863050
NM_000145.3(FSHR):c.947A>G (p.Glu316Gly) rs886056150
NM_000145.4(FSHR):c.*173G>A
NM_000145.4(FSHR):c.*321A>T
NM_000145.4(FSHR):c.*574T>C
NM_000145.4(FSHR):c.-96A>C
NM_000145.4(FSHR):c.1022T>C (p.Val341Ala)
NM_000145.4(FSHR):c.1094T>C (p.Leu365Pro)
NM_000145.4(FSHR):c.1145T>C (p.Ile382Thr)
NM_000145.4(FSHR):c.1173A>G (p.Gln391=)
NM_000145.4(FSHR):c.135G>A (p.Pro45=)
NM_000145.4(FSHR):c.1400G>T (p.Arg467Ile)
NM_000145.4(FSHR):c.1572C>G (p.Ser524Arg) rs6167
NM_000145.4(FSHR):c.1664C>T (p.Thr555Ile)
NM_000145.4(FSHR):c.1677C>T (p.Pro559=)
NM_000145.4(FSHR):c.176G>A (p.Arg59Gln)
NM_000145.4(FSHR):c.180C>T (p.Val60=)
NM_000145.4(FSHR):c.1902C>T (p.Arg634=)
NM_000145.4(FSHR):c.351G>A (p.Gln117=)
NM_000145.4(FSHR):c.455A>C (p.Gln152Pro)
NM_000145.4(FSHR):c.496G>T (p.Val166Leu)
NM_000145.4(FSHR):c.510T>G (p.Phe170Leu)
NM_000145.4(FSHR):c.636T>C (p.Asp212=)
NM_000145.4(FSHR):c.645C>T (p.His215=)
NM_000145.4(FSHR):c.707A>G (p.Tyr236Cys)
NM_000145.4(FSHR):c.898G>A (p.Glu300Lys)
NM_000145.4(FSHR):c.926G>T (p.Gly309Val)
NM_000145.4(FSHR):c.956A>G (p.Glu319Gly)
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.*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.*1941A>C
NM_000176.3(NR3C1):c.*1957A>G
NM_000176.3(NR3C1):c.*2031C>T rs369162225
NM_000176.3(NR3C1):c.*2056dup rs886060046
NM_000176.3(NR3C1):c.*2151A>C rs746282402
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.*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.*3077G>A rs886060040
NM_000176.3(NR3C1):c.*3259G>A
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.*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.*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.1489A>G (p.Ile497Val)
NM_000176.3(NR3C1):c.2307C>G (p.Ile769Met) rs886060060
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.685G>A (p.Ala229Thr) rs72542742
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.88T>C (p.Tyr30His) rs143711342
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.*397T>A rs753468192
NM_000198.4(HSD3B2):c.*411T>C
NM_000198.4(HSD3B2):c.*46C>T rs371081728
NM_000198.4(HSD3B2):c.-106T>C
NM_000198.4(HSD3B2):c.1012G>A (p.Ala338Thr)
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=) rs781770416
NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser) rs376207606
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=) rs150892928
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.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.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.707T>C (p.Leu236Ser) rs35887327
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=) rs755461071
NM_000198.4(HSD3B2):c.789C>G (p.Ser263Arg) rs771688849
NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr)
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=) rs34412477
NM_000414.4(HSD17B4):c.*123A>G
NM_000414.4(HSD17B4):c.*134C>T rs543194892
NM_000414.4(HSD17B4):c.*235T>C rs553631151
NM_000414.4(HSD17B4):c.-75C>A
NM_000414.4(HSD17B4):c.1000C>T (p.Pro334Ser)
NM_000414.4(HSD17B4):c.1090A>G (p.Ile364Val) rs757346346
NM_000414.4(HSD17B4):c.112+11G>A
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=) rs200347945
NM_000414.4(HSD17B4):c.1210-8T>C rs34254740
NM_000414.4(HSD17B4):c.1213C>T (p.Leu405Phe) rs746616691
NM_000414.4(HSD17B4):c.1263A>G (p.Gly421=)
NM_000414.4(HSD17B4):c.1337A>T (p.Tyr446Phe)
NM_000414.4(HSD17B4):c.1357C>T (p.Leu453Phe) rs372898042
NM_000414.4(HSD17B4):c.1417C>T (p.Arg473Trp) rs201455193
NM_000414.4(HSD17B4):c.1552C>T (p.Pro518Ser)
NM_000414.4(HSD17B4):c.1596T>C (p.His532=) rs758045328
NM_000414.4(HSD17B4):c.161C>A (p.Ala54Asp) rs141517981
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His) rs201009485
NM_000414.4(HSD17B4):c.1660T>C (p.Ser554Pro)
NM_000414.4(HSD17B4):c.1683T>C (p.Ala561=)
NM_000414.4(HSD17B4):c.1700T>C (p.Val567Ala) rs763390035
NM_000414.4(HSD17B4):c.1767G>T (p.Lys589Asn)
NM_000414.4(HSD17B4):c.1854+7T>C rs886059822
NM_000414.4(HSD17B4):c.1929G>A (p.Val643=) rs148189286
NM_000414.4(HSD17B4):c.1934A>C (p.Lys645Thr)
NM_000414.4(HSD17B4):c.2025G>A (p.Val675=) rs763204818
NM_000414.4(HSD17B4):c.2033G>A (p.Gly678Asp)
NM_000414.4(HSD17B4):c.230A>G (p.Glu77Gly) rs769358132
NM_000414.4(HSD17B4):c.268T>C (p.Phe90Leu) rs28943588
NM_000414.4(HSD17B4):c.278T>C (p.Ile93Thr) rs544455125
NM_000414.4(HSD17B4):c.303-11T>A
NM_000414.4(HSD17B4):c.388G>A (p.Val130Met)
NM_000414.4(HSD17B4):c.482A>C (p.Gln161Pro)
NM_000414.4(HSD17B4):c.622+5G>A rs536487449
NM_000414.4(HSD17B4):c.643C>A (p.Pro215Thr)
NM_000414.4(HSD17B4):c.718G>A (p.Gly240Arg) rs886059821
NM_000414.4(HSD17B4):c.790A>G (p.Met264Val)
NM_000414.4(HSD17B4):c.811G>A (p.Ala271Thr) rs543710228
NM_000414.4(HSD17B4):c.844G>C (p.Ala282Pro)
NM_000414.4(HSD17B4):c.943C>T (p.Arg315Cys) rs373503389
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995
NM_000414.4(HSD17B4):c.951G>A (p.Thr317=) rs779198396
NM_000414.4(HSD17B4):c.994C>T (p.Leu332Phe) rs370579120
NM_000497.3(CYP11B1):c.*1164G>A rs886062735
NM_000497.3(CYP11B1):c.*1209C>T rs757505651
NM_000497.3(CYP11B1):c.*1358T>C rs886062734
NM_000497.3(CYP11B1):c.*1435T>C rs551125657
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.*245C>G rs538608688
NM_000497.3(CYP11B1):c.*400C>T rs61752801
NM_000497.3(CYP11B1):c.*485C>G rs886062737
NM_000497.3(CYP11B1):c.*495C>T rs886062736
NM_000497.3(CYP11B1):c.*613A>G rs1137480
NM_000497.3(CYP11B1):c.*670A>C rs879537131
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.1003A>G (p.Asn335Asp) rs61752766
NM_000497.3(CYP11B1):c.1014G>A (p.Gln338=) rs151335623
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.1090T>C (p.Leu364=) rs754660381
NM_000497.3(CYP11B1):c.1112A>G (p.Glu371Gly) rs368944209
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.1157C>A (p.Ala386Glu) rs4541
NM_000497.3(CYP11B1):c.1205T>C (p.Leu402Ser) rs886062738
NM_000497.3(CYP11B1):c.1280G>A (p.Arg427His) rs754432887
NM_000497.3(CYP11B1):c.1451T>A (p.Val484Asp) rs374517238
NM_000497.3(CYP11B1):c.1486del (p.Leu496fs) rs1554652528
NM_000497.3(CYP11B1):c.1488C>T (p.Leu496=) rs776766470
NM_000497.3(CYP11B1):c.187G>C (p.Asp63His) rs5282
NM_000497.3(CYP11B1):c.235T>A (p.Phe79Ile) rs1489638195
NM_000497.3(CYP11B1):c.243C>T (p.Tyr81=) rs9657022
NM_000497.3(CYP11B1):c.346T>G (p.Trp116Gly) rs772733691
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+9C>T rs61751140
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.446T>C (p.Leu149Pro) rs1554653200
NM_000497.3(CYP11B1):c.449C>T (p.Ser150Leu) rs142484434
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.606G>A (p.Leu202=) rs61751154
NM_000497.3(CYP11B1):c.632_640del (p.Leu211_Gly213del) rs1554653044
NM_000497.3(CYP11B1):c.748C>T (p.Pro250Ser) rs753471858
NM_000497.3(CYP11B1):c.799+5G>C rs193922542
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.954+9G>C rs6411
NM_000497.3(CYP11B1):c.955-15_955-1del rs1554652823
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.*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.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.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.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_000500.9(CYP21A2):c.*13G>A rs6447
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.1223-3C>G rs6460
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.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.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.293-131_293-129dup rs1219292422
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.50G>T (p.Arg17Leu) rs1185695713
NM_000500.9(CYP21A2):c.540C>G (p.Asp180Glu) rs777946906
NM_000500.9(CYP21A2):c.597A>T (p.Leu199Phe) rs143240527
NM_000500.9(CYP21A2):c.724C>G (p.Leu242Val) rs1582306855
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.797C>T (p.Ala266Val) rs144029176
NM_000500.9(CYP21A2):c.856G>T (p.Ala286Ser) rs570785206
NM_000941.2(POR):c.-33G>T rs72553977
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.*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.*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.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.1245C>T (p.Gly415=)
NM_000941.3(POR):c.1265G>T (p.Trp422Leu)
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.1491G>T (p.Leu497=) rs370326231
NM_000941.3(POR):c.1501G>A (p.Glu501Lys) rs782697310
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.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.1609G>C (p.Gly537Arg)
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.1715C>T (p.Ser572Leu)
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.1876G>A (p.Gly626Ser)
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.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.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.366+14G>A rs372941705
NM_000941.3(POR):c.369C>T (p.Ala123=) rs41299490
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.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.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.-14+9T>C
NM_001018077.1(NR3C1):c.-363G>A
NM_001018077.1(NR3C1):c.-367G>A
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.-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_001026213.1(CYP11B1):c.517_519AAG[2] (p.Lys175del) rs535861895
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_005448.2(BMP15):c.226C>T (p.Arg76Cys) rs104894766
NM_005448.2(BMP15):c.538G>A (p.Ala180Thr) rs104894767
NM_005448.2(BMP15):c.596del (p.Gly199fs) rs782784547
NM_005448.2(BMP15):c.811G>T (p.Gly271Cys)
NM_005448.2(BMP15):c.920A>G (p.His307Arg)
NM_012208.4(HARS2):c.489dup (p.Ile164fs) rs781549967
NM_015340.4(LARS2):c.1784C>A (p.Ala595Asp) rs772859137
NM_015340.4(LARS2):c.1814G>A (p.Arg605His) rs142665087
NM_015340.4(LARS2):c.2269A>T (p.Met757Leu) rs1478071728
NM_016556.4(PSMC3IP):c.-35C>T rs369453385
NM_021830.5(TWNK):c.793C>T (p.Arg265Cys) rs764669712
NM_030761.5(WNT4):c.944T>G (p.Phe315Cys) rs1334778982
NM_031925.3(TMEM120A):c.*305A>C
NM_031925.3(TMEM120A):c.*313C>T

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