ClinVar Miner

List of variants reported as uncertain significance for adrenogenital syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 168
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HGVS dbSNP
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.1269C>G (p.Thr423=) rs554217514
NM_000102.4(CYP17A1):c.1363A>G (p.Ile455Val) rs138630127
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000102.4(CYP17A1):c.298-11G>C rs188885755
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.847G>C (p.Asp283His) rs746480412
NM_000176.3(NR3C1):c.*101dup rs776865643
NM_000176.3(NR3C1):c.*1087_*1088dup rs886060050
NM_000176.3(NR3C1):c.*1176C>T rs61753504
NM_000176.3(NR3C1):c.*1245_*1248dup rs10482710
NM_000176.3(NR3C1):c.*1628A>G rs372713535
NM_000176.3(NR3C1):c.*2056dup rs886060046
NM_000176.3(NR3C1):c.*2567A>G rs886060044
NM_000176.3(NR3C1):c.*3003A>G rs61753509
NM_000176.3(NR3C1):c.*3300G>T rs72542770
NM_000176.3(NR3C1):c.*3759dup rs772052566
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.*750del rs886060055
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.*834_*837dup rs886060053
NM_000176.3(NR3C1):c.*861_*868del rs547184962
NM_000176.3(NR3C1):c.*937C>A rs72542760
NM_000176.3(NR3C1):c.631A>G (p.Ser211Gly) rs886060061
NM_000176.3(NR3C1):c.753G>A (p.Pro251=) rs375379753
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.*46C>T rs371081728
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=) rs781770416
NM_000198.4(HSD3B2):c.1084C>T (p.Arg362Trp) rs199919404
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.308-8G>A rs371712928
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.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.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_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.*1543C>A rs748527738
NM_000349.3(STAR):c.*230A>G rs34575008
NM_000349.3(STAR):c.*348C>T rs886062904
NM_000349.3(STAR):c.*556A>G rs886062903
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.*88G>C rs112828857
NM_000349.3(STAR):c.*913C>T rs551135472
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.*981A>G rs188232971
NM_000349.3(STAR):c.-70G>T rs370257148
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.153G>A (p.Gln51=) rs72552290
NM_000349.3(STAR):c.178+9T>C rs777624416
NM_000349.3(STAR):c.289_291AAG[1] (p.Lys98del) rs146872295
NM_000349.3(STAR):c.361C>T (p.Arg121Trp) rs34908868
NM_000349.3(STAR):c.466-11T>A rs1053284504
NM_000349.3(STAR):c.466-5G>A rs375678713
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.563G>A (p.Arg188His) rs61736315
NM_000349.3(STAR):c.574C>T (p.Arg192Cys) rs752311616
NM_000349.3(STAR):c.814C>T (p.Arg272Cys) rs751759820
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.*1590G>C rs886062733
NM_000497.3(CYP11B1):c.*245C>G rs538608688
NM_000497.3(CYP11B1):c.*485C>G rs886062737
NM_000497.3(CYP11B1):c.*495C>T rs886062736
NM_000497.3(CYP11B1):c.*670A>C rs879537131
NM_000497.3(CYP11B1):c.*737C>T rs748684062
NM_000497.3(CYP11B1):c.*901G>A rs748103274
NM_000497.3(CYP11B1):c.1003A>G (p.Asn335Asp) rs61752766
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.1090T>C (p.Leu364=) rs754660381
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.1122-12C>T rs193922537
NM_000497.3(CYP11B1):c.1122-20A>G rs61752794
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.346T>G (p.Trp116Gly) rs772733691
NM_000497.3(CYP11B1):c.374A>G (p.His125Arg) rs757389720
NM_000497.3(CYP11B1):c.385G>A (p.Val129Met) rs377423817
NM_000497.3(CYP11B1):c.412C>T (p.Arg138Cys) rs764251434
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.517_519AAG[2] (p.Lys175del) rs535861895
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.954+9G>C rs6411
NM_000497.3(CYP11B1):c.955-15_955-1del rs1554652823
NM_000500.9(CYP21A2):c.*13G>A
NM_000500.9(CYP21A2):c.293-7C>G rs193922544
NM_000500.9(CYP21A2):c.738+12_738+13inv rs71552100
NM_000500.9(CYP21A2):c.740del (p.Glu247fs) rs750499484
NM_000941.3(POR):c.1384G>C (p.Ala462Pro)
NM_000941.3(POR):c.1660C>T (p.Arg554Ter) rs782336856
NM_000941.3(POR):c.214T>C (p.Phe72Leu) rs782107314
NM_000941.3(POR):c.513C>G (p.Phe171Leu)
NM_001018077.1(NR3C1):c.*1055T>A rs886060051
NM_001018077.1(NR3C1):c.*1241C>T rs768128384
NM_001018077.1(NR3C1):c.*1407A>G rs886060049
NM_001018077.1(NR3C1):c.*149T>C rs886060059
NM_001018077.1(NR3C1):c.*1509C>A rs886060048
NM_001018077.1(NR3C1):c.*1589A>G rs886060047
NM_001018077.1(NR3C1):c.*2031C>T rs369162225
NM_001018077.1(NR3C1):c.*2151A>C rs746282402
NM_001018077.1(NR3C1):c.*2521T>A rs886060045
NM_001018077.1(NR3C1):c.*2601A>T rs886060043
NM_001018077.1(NR3C1):c.*2873G>A rs886060042
NM_001018077.1(NR3C1):c.*3046G>C rs886060041
NM_001018077.1(NR3C1):c.*3077G>A rs886060040
NM_001018077.1(NR3C1):c.*3319G>C rs886060039
NM_001018077.1(NR3C1):c.*3431G>C rs886060038
NM_001018077.1(NR3C1):c.*3466T>C rs886060037
NM_001018077.1(NR3C1):c.*36G>A rs761674033
NM_001018077.1(NR3C1):c.*618A>G rs886060056
NM_001018077.1(NR3C1):c.*752A>G rs869125609
NM_001018077.1(NR3C1):c.*946T>G rs886060052
NM_001018077.1(NR3C1):c.2307C>G (p.Ile769Met) rs886060060
NM_001018077.1(NR3C1):c.289G>A (p.Val97Met) rs886060062
NM_001018077.1(NR3C1):c.309A>T (p.Gly103=) rs779300133
NM_001018077.1(NR3C1):c.850A>G (p.Ile284Val) rs766200119
NM_001166120.1(HSD3B2):c.-90+57G>A rs35226381
NM_004285.4(H6PD):c.1358G>A (p.Arg453Gln) rs6688832
NM_181755.2(HSD11B1):c.[331+53_331+54insA;332-29T>G]

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