ClinVar Miner

List of variants reported as pathogenic for adrenogenital syndrome

Included ClinVar conditions (12):
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ClinVar version:
Total variants: 120
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HGVS dbSNP
-4C-T, PRO105LEU, AND PRO453SER
CYP11B1, 2-BP INS
CYP11B1, 954G-A
CYP11B1, CYP11B1/CYP11B2 CHIMERA
CYP11B1, IVS3DS, G-T, +16
CYP11B1, IVS8, A-G, +4
CYP21A2, 1-BP INS, 1003A
CYP21A2, 1-BP INS, 82C
CYP21A2, 30-KB DEL
CYP21A2, ARG339HIS AND PRO453SER
CYP21A2, ARG408CYS
CYP21A2, ARG426HIS
CYP21A2, GENE CONVERSION CYP21 FROM CYP21P
CYP21A2, GLU380ASP
CYP21A2, GLY424SER
CYP21A2, IVS2, A-G, -2
CYP21A2, IVS7DS, G-C, +1
HSD11B1, LYS187ASN
HSD3B2, 1-BP DEL, 867G
HSD3B2, 1-BP INS
NM_000102.3(CYP17A1):c.1040G>A (p.Arg347His) rs61754278
NM_000102.3(CYP17A1):c.1162A>T (p.Lys388Ter) rs1060499582
NM_000102.3(CYP17A1):c.286C>T (p.Arg96Trp) rs104894138
NM_000102.3(CYP17A1):c.316T>C (p.Ser106Pro) rs104894135
NM_000102.3:c.1459_1467delGACTCTTTC
NM_000176.2(NR3C1):c.1891_1892+2del rs587776832
NM_000349.2(STAR):c.178+2dup
NM_000349.2(STAR):c.201_202del (p.Tyr68Glnfs)
NM_000349.2(STAR):c.466-11T>A rs1053284504
NM_000349.2(STAR):c.545G>A (p.Arg182His) rs104894086
NM_000349.2(STAR):c.545G>T (p.Arg182Leu) rs104894086
NM_000349.2(STAR):c.559G>A (p.Val187Met) rs104894089
NM_000349.2(STAR):c.562C>T (p.Arg188Cys) rs104894090
NM_000349.2(STAR):c.577C>T (p.Arg193Ter) rs387907235
NM_000349.2(STAR):c.64+1G>T rs765968701
NM_000349.2(STAR):c.650G>C (p.Arg217Thr) rs137852689
NM_000349.2(STAR):c.653C>T (p.Ala218Val) rs137852690
NM_000349.2(STAR):c.749G>A (p.Trp250Ter) rs104894087
NM_000349.2(STAR):c.772C>T (p.Gln258Ter) rs104894085
NM_000349.3(STAR):c.125dup (p.Thr44Hisfs)
NM_000497.3(CYP11B1):c.1066C>T (p.Gln356Ter) rs146124466
NM_000497.3(CYP11B1):c.1103C>A (p.Ala368Asp) rs104894071
NM_000497.3(CYP11B1):c.1121G>A (p.Arg374Gln) rs104894062
NM_000497.3(CYP11B1):c.1181delA (p.Asn394Thrfs) rs1256580853
NM_000497.3(CYP11B1):c.124C>T (p.Pro42Ser) rs104894069
NM_000497.3(CYP11B1):c.1269T>G (p.Tyr423Ter) rs267606755
NM_000497.3(CYP11B1):c.1343G>A (p.Arg448His) rs28934586
NM_000497.3(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.3(CYP11B1):c.317_344del28 (p.Leu106Profs) rs764418169
NM_000497.3(CYP11B1):c.347G>A (p.Trp116Ter) rs104894066
NM_000497.3(CYP11B1):c.372delG (p.His125Thrfs) rs1554653520
NM_000497.3(CYP11B1):c.397A>C (p.Asn133His) rs104894067
NM_000497.3(CYP11B1):c.740G>A (p.Trp247Ter) rs866430018
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.953C>T (p.Thr318Met) rs104894061
NM_000497.3(CYP11B1):c.956C>T (p.Thr319Met) rs104894068
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.1069C>T (p.Arg357Trp) rs7769409
NM_000500.7(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.7(CYP21A2):c.1217G>A (p.Trp406Ter) rs151344503
NM_000500.7(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445
NM_000500.7(CYP21A2):c.188A>T (p.His63Leu) rs9378252
NM_000500.7(CYP21A2):c.293-13C>G rs6467
NM_000500.7(CYP21A2):c.332_339delGAGACTAC (p.Gly111Valfs) rs387906510
NM_000500.7(CYP21A2):c.361A>C (p.Lys121Gln) rs267606757
NM_000500.7(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_000500.7(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.7(CYP21A2):c.874G>A (p.Gly292Ser) rs201552310
NM_000500.7(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251
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.*28699312C>T
NM_000500.7:c.*28699426C>T
NM_000500.9(CYP21A2):c.1451_1452delGGinsC (p.Arg484Profs) rs397509367
NM_000500.9(CYP21A2):c.710_719delTCGTGGAGATinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys) rs786204728
NM_000500.9(CYP21A2):c.844G>C (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.923dup (p.Leu308Phefs) rs267606756
NM_000941.2(POR):c.1370G>A (p.Arg457His) rs28931608
NM_000941.2(POR):c.1571_1619dup (p.Ala541Leufs)
NM_000941.2(POR):c.1615G>A (p.Gly539Arg) rs121912976
NM_000941.2(POR):c.1706G>A (p.Cys569Tyr) rs28931607
NM_000941.2(POR):c.1822G>T (p.Val608Phe) rs72552772
NM_000941.2(POR):c.541T>G (p.Tyr181Asp) rs72552771
NM_000941.2(POR):c.859G>C (p.Ala287Pro) rs121912974
NM_001018077.1(NR3C1):c.1430G>A (p.Arg477His) rs104893913
NM_001018077.1(NR3C1):c.1676T>A (p.Ile559Asn) rs104893909
NM_001018077.1(NR3C1):c.1922A>T (p.Asp641Val) rs104893908
NM_001018077.1(NR3C1):c.2035G>A (p.Gly679Ser) rs104893914
NM_001018077.1(NR3C1):c.2209T>C (p.Phe737Leu) rs121909727
NM_001018077.1(NR3C1):c.2241T>G (p.Ile747Met) rs104893910
NM_001018077.1(NR3C1):c.2318T>C (p.Leu773Pro) rs104893912
NM_001166120.1(HSD3B2):c.1022C>T (p.Pro341Leu) rs121964897
NM_001166120.1(HSD3B2):c.1119A>C (p.Ter373Cys) rs80358218
NM_001166120.1(HSD3B2):c.29C>A (p.Ala10Glu) rs28934880
NM_001166120.1(HSD3B2):c.424G>A (p.Glu142Lys) rs80358219
NM_001166120.1(HSD3B2):c.512G>A (p.Trp171Ter) rs80358216
NM_001166120.1(HSD3B2):c.664C>A (p.Pro222Thr) rs80358220
NM_001166120.1(HSD3B2):c.742_743delGTinsAA (p.Val248Asn) rs121964896
NM_001166120.1(HSD3B2):c.776C>T (p.Thr259Met) rs80358221
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.666T>G (p.His222Gln)
NM_001354.5(AKR1C2):c.899A>C (p.Asn300Thr) rs387906751
NM_004285.3(H6PD):c.1076G>A (p.Gly359Asp) rs387907167
NM_004285.3(H6PD):c.1860_1861insACAGGTGGTTGACCTGTGGCCGGGTCTGA (p.Glu621Thrfs) rs606231222
NM_004285.3(H6PD):c.325del (p.Arg109Alafs) rs398122818
NM_004285.3(H6PD):c.948C>G (p.Tyr316Ter) rs398122817
NM_004285.3(H6PD):c.960G>A (p.Val320=) rs398122816
NM_181755.2(HSD11B1):c.409C>T (p.Arg137Cys) rs387907168
STAR, 1-BP DEL, 261T

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