ClinVar Miner

List of variants studied for 46,XX disorder of sex development by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 156
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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.*1296T>C rs28757212
NM_000103.4(CYP19A1):c.*1601G>A rs12148604
NM_000103.4(CYP19A1):c.*1608C>T rs781782351
NM_000103.4(CYP19A1):c.*161T>G rs4646
NM_000103.4(CYP19A1):c.*166T>A rs181721810
NM_000103.4(CYP19A1):c.*1877T>G rs886051273
NM_000103.4(CYP19A1):c.*1888A>G rs4275794
NM_000103.4(CYP19A1):c.*191C>A rs190403648
NM_000103.4(CYP19A1):c.*191del rs546415613
NM_000103.4(CYP19A1):c.*19C>T rs10046
NM_000103.4(CYP19A1):c.*2032G>A rs886051272
NM_000103.4(CYP19A1):c.*2039G>T rs35636804
NM_000103.4(CYP19A1):c.*2155T>C rs865821138
NM_000103.4(CYP19A1):c.*2170G>A rs2255192
NM_000103.4(CYP19A1):c.*2192T>C rs886051271
NM_000103.4(CYP19A1):c.*2257A>G rs540900346
NM_000103.4(CYP19A1):c.*2258_*2259insA rs3217422
NM_000103.4(CYP19A1):c.*2274A>G rs886051270
NM_000103.4(CYP19A1):c.*2467G>A rs934634
NM_000103.4(CYP19A1):c.*2511G>A rs934633
NM_000103.4(CYP19A1):c.*2645dup rs886051269
NM_000103.4(CYP19A1):c.*280A>T rs77828415
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+14659C>A rs28757082
NM_000103.4(CYP19A1):c.-39+1G>A rs956997586
NM_000103.4(CYP19A1):c.115T>C (p.Trp39Arg) rs2236722
NM_000103.4(CYP19A1):c.1378G>A (p.Val460Met) rs372500474
NM_000103.4(CYP19A1):c.186C>T (p.His62=) rs60308277
NM_000103.4(CYP19A1):c.240A>G (p.Val80=) rs700518
NM_000103.4(CYP19A1):c.49G>A (p.Val17Met) rs200111039
NM_000103.4(CYP19A1):c.602C>T (p.Thr201Met) rs28757184
NM_000103.4(CYP19A1):c.629-10T>C rs781489846
NM_000103.4(CYP19A1):c.790C>T (p.Arg264Cys) rs700519
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.*2042C>T rs13306586
NM_000176.3(NR3C1):c.*2056dup rs886060046
NM_000176.3(NR3C1):c.*2188A>G rs6193
NM_000176.3(NR3C1):c.*2567A>G rs886060044
NM_000176.3(NR3C1):c.*290A>C rs72542758
NM_000176.3(NR3C1):c.*3003A>G rs61753509
NM_000176.3(NR3C1):c.*3076C>T rs72542769
NM_000176.3(NR3C1):c.*3153C>T rs2301177
NM_000176.3(NR3C1):c.*3298G>T rs6191
NM_000176.3(NR3C1):c.*3300G>T rs72542770
NM_000176.3(NR3C1):c.*3550G>A rs10482714
NM_000176.3(NR3C1):c.*3833A>G rs6198
NM_000176.3(NR3C1):c.*3937A>T rs4518436
NM_000176.3(NR3C1):c.*937C>A rs72542760
NM_000176.3(NR3C1):c.1088A>G (p.Asn363Ser) rs56149945
NM_000176.3(NR3C1):c.1242A>G (p.Thr414=) rs67902340
NM_000176.3(NR3C1):c.1764C>T (p.His588=) rs6194
NM_000176.3(NR3C1):c.2034C>T (p.Asp678=) rs258751
NM_000176.3(NR3C1):c.2182-9C>G rs72542757
NM_000176.3(NR3C1):c.2250C>T (p.Pro750=) rs67300719
NM_000176.3(NR3C1):c.2298T>C (p.Asn766=) rs6196
NM_000176.3(NR3C1):c.631A>G (p.Ser211Gly) rs886060061
NM_000176.3(NR3C1):c.66G>A (p.Glu22=) rs6189
NM_000176.3(NR3C1):c.68G>A (p.Arg23Lys) rs6190
NM_000176.3(NR3C1):c.753G>A (p.Pro251=) rs375379753
NM_000176.3(NR3C1):c.879G>A (p.Lys293=) rs10482622
NM_000176.3(NR3C1):c.897A>G (p.Thr299=) rs13306588
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.*250dup rs34381335
NM_000414.4(HSD17B4):c.*260A>G rs28943596
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.-75C>G rs26180
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.1531T>C (p.Trp511Arg) rs11539471
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.1675A>G (p.Ile559Val) rs11205
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146
NM_000414.4(HSD17B4):c.1791C>T (p.Val597=) rs2560722
NM_000414.4(HSD17B4):c.1854+7T>C rs886059822
NM_000414.4(HSD17B4):c.2025G>A (p.Val675=) rs763204818
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile) rs28943592
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val) rs28943594
NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=) rs12714
NM_000414.4(HSD17B4):c.268T>C (p.Phe90Leu) rs28943588
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) rs25640
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn) rs28943589
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.875C>G (p.Thr292Ser) rs1143650
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.346T>G (p.Trp116Gly) rs772733691
NM_000497.3(CYP11B1):c.385G>A (p.Val129Met) rs377423817
NM_000497.3(CYP11B1):c.449C>T (p.Ser150Leu) rs142484434
NM_000941.3(POR):c.1363del (p.Gln455fs) rs781805159
NM_000941.3(POR):c.1660C>T (p.Arg554Ter) rs782336856
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.*1220_*1225dup rs72542761
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_005448.2(BMP15):c.596del (p.Gly199fs) rs782784547
NM_031226.2(CYP19A1):c.629-8dupT rs750758078

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