ClinVar Miner

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

Included ClinVar conditions (32):
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ClinVar version:
Total variants: 166
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HGVS dbSNP
-4C-T, PRO105LEU, AND PRO453SER
CYP11B1, 2-BP INS
CYP11B1, 954G-A
CYP11B1, CYP11B1/CYP11B2 CHIMERA
CYP19A1, 1-BP DEL, C, CODON 156
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
GRCh37/hg19 17q24.3(chr17:69458883-69482850)x3
GRCh37/hg19 17q24.3(chr17:69475275-69499520)x3
HARS2, VAL368LEU
NM_000103.4(CYP19A1):c.1094G>A (p.Arg365Gln) rs80051519
NM_000103.4(CYP19A1):c.1123C>T (p.Arg375Cys) rs121434536
NM_000103.4(CYP19A1):c.1224del (p.Lys409fs) rs786205108
NM_000103.4(CYP19A1):c.1303C>T (p.Arg435Cys) rs121434534
NM_000103.4(CYP19A1):c.1310G>A (p.Cys437Tyr) rs78310315
NM_000103.4(CYP19A1):c.296+1G>A rs786205109
NM_000103.4(CYP19A1):c.628G>A (p.Glu210Lys) rs121434538
NM_000103.4(CYP19A1):c.629-3C>A rs786205110
NM_000103.4(CYP19A1):c.743+2T>C rs786205107
NM_000145.3(FSHR):c.1255G>A (p.Ala419Thr) rs121909661
NM_000145.3(FSHR):c.1555C>A (p.Pro519Thr) rs121909662
NM_000145.3(FSHR):c.1717C>T (p.Arg573Cys) rs121909660
NM_000145.3(FSHR):c.1760C>A (p.Pro587His) rs386833512
NM_000145.3(FSHR):c.479T>C (p.Ile160Thr) rs121909659
NM_000145.3(FSHR):c.566C>T (p.Ala189Val) rs121909658
NM_000176.3(NR3C1):c.1430G>A (p.Arg477His) rs104893913
NM_000176.3(NR3C1):c.1676T>A (p.Ile559Asn) rs104893909
NM_000176.3(NR3C1):c.1891_1892+2del rs587776832
NM_000176.3(NR3C1):c.1922A>T (p.Asp641Val) rs104893908
NM_000176.3(NR3C1):c.2035G>A (p.Gly679Ser) rs104893914
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.2318T>C (p.Leu773Pro) rs104893912
NM_000198.4(HSD3B2):c.1022C>T (p.Pro341Leu) rs121964897
NM_000198.4(HSD3B2):c.1119A>C (p.Ter373Cys) rs80358218
NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu) rs28934880
NM_000198.4(HSD3B2):c.424G>A (p.Glu142Lys) rs80358219
NM_000198.4(HSD3B2):c.512G>A (p.Trp171Ter) rs80358216
NM_000198.4(HSD3B2):c.558dup (p.Thr187fs)
NM_000198.4(HSD3B2):c.664C>A (p.Pro222Thr) rs80358220
NM_000198.4(HSD3B2):c.742_743delinsAA (p.Val248Asn) rs121964896
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met) rs80358221
NM_000198.4(HSD3B2):c.867del (p.Met290fs)
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val) rs587777442
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu) rs587777444
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443
NM_000414.4(HSD17B4):c.1578del (p.Phe526fs) rs1561485663
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro) rs201009485
NM_000414.4(HSD17B4):c.1628_1629GT[5] (p.Leu545fs) rs1057517323
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter)
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter) rs751646311
NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys) rs387906825
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys) rs969485098
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.1181del (p.Asn394fs) 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.1398+4A>G
NM_000497.3(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.3(CYP11B1):c.317_344del (p.Leu106fs) rs764418169
NM_000497.3(CYP11B1):c.347G>A (p.Trp116Ter) rs104894066
NM_000497.3(CYP11B1):c.372del (p.His125fs) rs1554653520
NM_000497.3(CYP11B1):c.397A>C (p.Asn133His) rs104894067
NM_000497.3(CYP11B1):c.595+16G>T
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.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.*28699312C>T
NM_000500.7:c.*28699426C>T
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1217G>A (p.Trp406Ter) rs151344503
NM_000500.9(CYP21A2):c.1225C>T (p.Arg409Cys)
NM_000500.9(CYP21A2):c.1280G>A (p.Arg427His)
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser)
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs) rs397509367
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.293-2A>G
NM_000500.9(CYP21A2):c.361A>C (p.Lys121Gln) rs267606757
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_000500.9(CYP21A2):c.710_719delinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys) rs786204728
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.85dup (p.His29fs)
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_000941.3(POR):c.1370G>A (p.Arg457His) rs28931608
NM_000941.3(POR):c.1571_1619dup (p.Ala541fs) rs1563435458
NM_000941.3(POR):c.1615G>A (p.Gly539Arg) rs121912976
NM_000941.3(POR):c.1706G>A (p.Cys569Tyr) rs28931607
NM_000941.3(POR):c.1822G>T (p.Val608Phe) rs72552772
NM_000941.3(POR):c.541T>G (p.Tyr181Asp) rs72552771
NM_000941.3(POR):c.859G>C (p.Ala287Pro) rs121912974
NM_001012415.3(SOHLH1):c.27C>G (p.Tyr9Ter) rs864309646
NM_001012415.3(SOHLH1):c.705del (p.Lys236fs) rs864309645
NM_003140.3(SRY):c.331C>T (p.Gln111Ter) rs1556370543
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln) rs104894119
NM_005448.2(BMP15):c.202C>T (p.Arg68Trp) rs104894763
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.631C>T (p.Gln211Ter) rs137853320
NM_005448.2(BMP15):c.704A>G (p.Tyr235Cys) rs104894765
NM_005702.4(ERAL1):c.707A>T (p.Asn236Ile) rs1131692170
NM_006012.4(CLPP):c.270+4A>G rs398123035
NM_006012.4(CLPP):c.433A>C (p.Thr145Pro) rs398123033
NM_006012.4(CLPP):c.440G>C (p.Cys147Ser) rs398123034
NM_006012.4(CLPP):c.624C>G (p.Ile208Met) rs1555719766
NM_012208.4(HARS2):c.598C>G (p.Leu200Val) rs397515410
NM_015340.3(LARS2):c.[1912G>A];[899C>T]
NM_015340.4(LARS2):c.1077del (p.Ile360fs) rs398123037
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947
NM_015340.4(LARS2):c.1886C>T (p.Thr629Met) rs398123036
NM_015340.4(LARS2):c.1912G>A (p.Glu638Lys) rs864309643
NM_015340.4(LARS2):c.1987C>T (p.Arg663Trp) rs774649299
NM_015340.4(LARS2):c.371A>T (p.Asn124Ile) rs776171893
NM_015340.4(LARS2):c.899C>T (p.Thr300Met) rs864309642
NM_017696.2(MCM9):c.1483G>T (p.Glu495Ter) rs1060505058
NM_017696.2(MCM9):c.1732+2T>C rs587777871
NM_017696.2(MCM9):c.394C>T (p.Arg132Ter) rs587777872
NM_020191.3(MRPS22):c.404G>A (p.Arg135Gln) rs774237195
NM_020191.3(MRPS22):c.605G>A (p.Arg202His) rs753345594
NM_020401.4(NUP107):c.1339G>A (p.Asp447Asn) rs1555178358
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621
NM_021830.5(TWNK):c.1321T>G (p.Trp441Gly) rs672601361
NM_021830.5(TWNK):c.1519G>A (p.Val507Ile) rs369588002
NM_021830.5(TWNK):c.1754A>G (p.Asn585Ser) rs672601360
NM_021830.5(TWNK):c.874C>A (p.Pro292Thr) rs759603316
NM_030761.5(WNT4):c.247C>T (p.Arg83Trp) rs121908652
NM_030761.5(WNT4):c.341C>T (p.Ala114Val) rs121908651
NM_030761.5(WNT4):c.35T>C (p.Leu12Pro) rs121908653
NM_030761.5(WNT4):c.647A>G (p.Glu216Gly) rs121908650
NM_152524.5:c.1453_1454delGA,NM_012130.3:c.254T>A
PSMC3IP, 3-BP DEL, 600GAG
RSPO1, 1-BP INS, 896G
RSPO1, EX4 DEL
SOX9, 148-KB DUP, UPSTREAM REGULATORY REGION
SOX9, 178-KB DUP, UPSTREAM REGULATORY REGION
SOX9, 96-KB TRIPLICATION, UPSTREAM REGULATORY REGION

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