ClinVar Miner

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

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 136
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HGVS dbSNP
NM_000103.4(CYP19A1):c.*1019C>T rs886051274
NM_000103.4(CYP19A1):c.*1069C>T rs527275486
NM_000103.4(CYP19A1):c.*108A>G rs28757207
NM_000103.4(CYP19A1):c.*1608C>T rs781782351
NM_000103.4(CYP19A1):c.*166T>A rs181721810
NM_000103.4(CYP19A1):c.*1877T>G rs886051273
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.*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.*2645dup rs886051269
NM_000103.4(CYP19A1):c.*460G>C rs28757208
NM_000103.4(CYP19A1):c.*483G>C rs886051276
NM_000103.4(CYP19A1):c.*638G>T rs886051275
NM_000103.4(CYP19A1):c.*747G>A rs866111735
NM_000103.4(CYP19A1):c.*858C>T rs555261840
NM_000103.4(CYP19A1):c.*9G>T rs373757519
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+1G>A rs956997586
NM_000103.4(CYP19A1):c.1378G>A (p.Val460Met) rs372500474
NM_000103.4(CYP19A1):c.49G>A (p.Val17Met) rs200111039
NM_000103.4(CYP19A1):c.629-10T>C rs781489846
NM_000103.4(CYP19A1):c.953T>C (p.Met318Thr) rs143839949
NM_000103.4(CYP19A1):c.976C>T (p.Pro326Ser) rs368902124
NM_000176.3(NR3C1):c.*1176C>T rs61753504
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.*3937A>T rs4518436
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_000414.4(HSD17B4):c.*134C>T rs543194892
NM_000414.4(HSD17B4):c.*135T>G rs185522709
NM_000414.4(HSD17B4):c.*235T>C rs553631151
NM_000414.4(HSD17B4):c.*278T>A rs149665666
NM_000414.4(HSD17B4):c.*6A>G rs111671384
NM_000414.4(HSD17B4):c.*83T>G rs181310520
NM_000414.4(HSD17B4):c.-27G>C rs34604765
NM_000414.4(HSD17B4):c.-28C>T rs34353289
NM_000414.4(HSD17B4):c.1090A>G (p.Ile364Val)
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=) rs200347945
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.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796
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.1700T>C (p.Val567Ala)
NM_000414.4(HSD17B4):c.1854+7T>C rs886059822
NM_000414.4(HSD17B4):c.2025G>A (p.Val675=) rs763204818
NM_000414.4(HSD17B4):c.268T>C (p.Phe90Leu) rs28943588
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536
NM_000414.4(HSD17B4):c.718G>A (p.Gly240Arg) rs886059821
NM_000414.4(HSD17B4):c.811G>A (p.Ala271Thr) rs543710228
NM_000414.4(HSD17B4):c.943C>T (p.Arg315Cys) rs373503389
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995
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.1112A>G (p.Glu371Gly) rs368944209
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.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.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.799+5G>C rs193922542
NM_000497.3(CYP11B1):c.955-15_955-1del rs1554652823
NM_000500.9(CYP21A2):c.*13G>A
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.*101dup rs776865643
NM_001018077.1(NR3C1):c.*1055T>A rs886060051
NM_001018077.1(NR3C1):c.*1087_*1088dup rs886060050
NM_001018077.1(NR3C1):c.*1241C>T rs768128384
NM_001018077.1(NR3C1):c.*1245_*1248dup rs10482710
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.*3759dup rs772052566
NM_001018077.1(NR3C1):c.*401dup rs886060058
NM_001018077.1(NR3C1):c.*409del rs10482707
NM_001018077.1(NR3C1):c.*409dup rs10482707
NM_001018077.1(NR3C1):c.*618A>G rs886060056
NM_001018077.1(NR3C1):c.*750del rs886060055
NM_001018077.1(NR3C1):c.*752A>G rs869125609
NM_001018077.1(NR3C1):c.*766_*769dup rs34248080
NM_001018077.1(NR3C1):c.*768_*769dup rs34248080
NM_001018077.1(NR3C1):c.*769dup rs34248080
NM_001018077.1(NR3C1):c.*834_*837dup rs886060053
NM_001018077.1(NR3C1):c.*861_*868del rs547184962
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_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_005448.2(BMP15):c.596del (p.Gly199fs) rs782784547
NM_012208.4(HARS2):c.489dup (p.Ile164fs) rs781549967
NM_015340.4(LARS2):c.1814G>A (p.Arg605His) rs142665087
NM_030761.5(WNT4):c.944T>G (p.Phe315Cys) rs1334778982
NM_031226.2(CYP19A1):c.629-8dupT rs750758078

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