ClinVar Miner

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

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 153
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HGVS dbSNP
NM_000103.4(CYP19A1):c.*108A>G rs28757207
NM_000103.4(CYP19A1):c.*1190C>T
NM_000103.4(CYP19A1):c.*1296T>C rs28757212
NM_000103.4(CYP19A1):c.*1601G>A rs12148604
NM_000103.4(CYP19A1):c.*161T>G rs4646
NM_000103.4(CYP19A1):c.*1888A>G rs4275794
NM_000103.4(CYP19A1):c.*19C>T rs10046
NM_000103.4(CYP19A1):c.*2039G>T rs35636804
NM_000103.4(CYP19A1):c.*2170G>A rs2255192
NM_000103.4(CYP19A1):c.*2258_*2259insA rs3217422
NM_000103.4(CYP19A1):c.*2467G>A rs934634
NM_000103.4(CYP19A1):c.*2511G>A rs934633
NM_000103.4(CYP19A1):c.*2624C>T
NM_000103.4(CYP19A1):c.*2723A>G
NM_000103.4(CYP19A1):c.*280A>T rs77828415
NM_000103.4(CYP19A1):c.-39+14659C>A rs28757082
NM_000103.4(CYP19A1):c.109T>C (p.Leu37=) rs58282176
NM_000103.4(CYP19A1):c.1224C>T (p.Pro408=) rs2304461
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.42C>G (p.Thr14=) rs61203654
NM_000103.4(CYP19A1):c.602C>T (p.Thr201Met) rs28757184
NM_000103.4(CYP19A1):c.790C>T (p.Arg264Cys) rs700519
NM_000103.4(CYP19A1):c.963C>G (p.Leu321=) rs59359360
NM_000145.3(FSHR):c.*256C>T rs72873077
NM_000145.3(FSHR):c.-29G>A rs1394205
NM_000145.3(FSHR):c.2039G>A (p.Ser680Asn) rs6166
NM_000145.3(FSHR):c.919G>A (p.Ala307Thr) rs6165
NM_000176.3(NR3C1):c.*2188A>G rs6193
NM_000176.3(NR3C1):c.*3298G>T rs6191
NM_000176.3(NR3C1):c.*3833A>G rs6198
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.2298T>C (p.Asn766=) rs6196
NM_000176.3(NR3C1):c.66G>A (p.Glu22=) rs6189
NM_000198.4(HSD3B2):c.*202A>G rs9282704
NM_000198.4(HSD3B2):c.*276C>T rs1819698
NM_000198.4(HSD3B2):c.*321C>G rs1361530
NM_000198.4(HSD3B2):c.*96C>G rs9282703
NM_000198.4(HSD3B2):c.220G>A (p.Asp74Asn) rs4986954
NM_000198.4(HSD3B2):c.777G>A (p.Thr259=) rs33926546
NM_000414.4(HSD17B4):c.*250dup rs34381335
NM_000414.4(HSD17B4):c.*260A>G rs28943596
NM_000414.4(HSD17B4):c.*6A>G rs111671384
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.1059G>A (p.Ala353=) rs57972893
NM_000414.4(HSD17B4):c.1192T>C (p.Ser398Pro) rs576803491
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.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.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.281-7A>G rs35201279
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.875C>G (p.Thr292Ser) rs1143650
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995
NM_000497.3(CYP11B1):c.*1020C>T rs5017238
NM_000497.3(CYP11B1):c.*1042A>G rs7003319
NM_000497.3(CYP11B1):c.*1288A>G rs61752809
NM_000497.3(CYP11B1):c.*132T>C rs5297
NM_000497.3(CYP11B1):c.*1417G>A rs61752812
NM_000497.3(CYP11B1):c.*1499C>T rs1134095
NM_000497.3(CYP11B1):c.*1566G>T rs1134096
NM_000497.3(CYP11B1):c.*1852T>G rs4736312
NM_000497.3(CYP11B1):c.*318A>G rs5299
NM_000497.3(CYP11B1):c.*471A>C rs12543598
NM_000497.3(CYP11B1):c.*516A>G rs5301
NM_000497.3(CYP11B1):c.*694T>C rs5303
NM_000497.3(CYP11B1):c.*738G>A rs5304
NM_000497.3(CYP11B1):c.*923G>C rs61752805
NM_000497.3(CYP11B1):c.1086G>C (p.Leu362=) rs6403
NM_000497.3(CYP11B1):c.1157C>T (p.Ala386Val) rs4541
NM_000497.3(CYP11B1):c.128G>A (p.Arg43Gln) rs4534
NM_000497.3(CYP11B1):c.1399-14G>C rs5295
NM_000497.3(CYP11B1):c.225A>G (p.Leu75=) rs6410
NM_000497.3(CYP11B1):c.239+13C>A rs6402
NM_000497.3(CYP11B1):c.246C>T (p.Asp82=) rs5283
NM_000497.3(CYP11B1):c.595+12G>A rs6387
NM_000497.3(CYP11B1):c.800-14C>T rs4535
NM_000497.3(CYP11B1):c.873G>A (p.Ala291=) rs34570566
NM_000497.4(CYP11B1):c.239+20T>A
NM_000497.4(CYP11B1):c.596-41C>T
NM_000500.9(CYP21A2):c.*13G>A rs6447
NM_000500.9(CYP21A2):c.*18C>T rs1582314321
NM_000500.9(CYP21A2):c.*2G>C rs1182749183
NM_000500.9(CYP21A2):c.1223-21C>T rs755724055
NM_000500.9(CYP21A2):c.1320C>T (p.Phe440=) rs1188690556
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000500.9(CYP21A2):c.1482C>T (p.Ser494=) rs397515529
NM_000500.9(CYP21A2):c.17_19TGC[6] (p.Leu10dup) rs61338903
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252
NM_000500.9(CYP21A2):c.203-18G>C rs1582300565
NM_000500.9(CYP21A2):c.292+109C>G rs1582301551
NM_000500.9(CYP21A2):c.293-115C>G rs1582301787
NM_000500.9(CYP21A2):c.293-130C>T rs1582301718
NM_000500.9(CYP21A2):c.293-80G>A rs79249676
NM_000500.9(CYP21A2):c.293-88G>A rs1282239643
NM_000500.9(CYP21A2):c.293-89A>G rs1582302040
NM_000500.9(CYP21A2):c.293-91G>A rs1051507539
NM_000500.9(CYP21A2):c.293-94T>A rs1582301962
NM_000500.9(CYP21A2):c.293-95G>C rs1382005578
NM_000500.9(CYP21A2):c.293-96G>T rs1582301922
NM_000500.9(CYP21A2):c.308G>A (p.Arg103Lys) rs6474
NM_000500.9(CYP21A2):c.322C>T (p.Leu108=) rs1258749689
NM_000500.9(CYP21A2):c.382C>T (p.Leu128=) rs1433029679
NM_000500.9(CYP21A2):c.405C>T (p.Ser135=) rs1582303392
NM_000500.9(CYP21A2):c.447+38C>T rs6466
NM_000500.9(CYP21A2):c.447+39G>A rs569670804
NM_000500.9(CYP21A2):c.448-3C>T rs1582304092
NM_000500.9(CYP21A2):c.448-50G>A rs780875791
NM_000500.9(CYP21A2):c.550-19C>G rs1582305066
NM_000500.9(CYP21A2):c.552C>G (p.Asp184Glu) rs397515531
NM_000500.9(CYP21A2):c.651+30G>A rs777741541
NM_000500.9(CYP21A2):c.651+35A>G rs12525076
NM_000500.9(CYP21A2):c.652-5C>T rs758449746
NM_000500.9(CYP21A2):c.747C>G (p.Leu249=) rs6477
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr) rs6472
NM_000941.2(POR):c.-47A>C rs3823884
NM_000941.3(POR):c.*306G>A rs17685
NM_000941.3(POR):c.1067-13C>G rs4732516
NM_000941.3(POR):c.1248+12C>T rs2286822
NM_000941.3(POR):c.1455T>C (p.Ala485=) rs2228104
NM_000941.3(POR):c.1508C>T (p.Ala503Val) rs1057868
NM_000941.3(POR):c.1518C>T (p.Asn506=) rs782397055
NM_000941.3(POR):c.15A>G (p.Gly5=) rs10262966
NM_000941.3(POR):c.1716G>A (p.Ser572=) rs1057870
NM_000941.3(POR):c.1815+8G>A rs72557952
NM_000941.3(POR):c.1891G>A (p.Val631Ile) rs145782750
NM_000941.3(POR):c.1898+3G>A rs41301439
NM_000941.3(POR):c.369C>T (p.Ala123=) rs41299490
NM_000941.3(POR):c.387A>G (p.Pro129=) rs1135612
NM_000941.3(POR):c.517-4G>A rs41299496
NM_000941.3(POR):c.870C>T (p.Thr290=) rs782249427
NM_000941.3(POR):c.87G>A (p.Thr29=) rs41295381
NM_005448.2(BMP15):c.*13G>A rs112064937
NM_005448.2(BMP15):c.-9C>G rs3810682
NM_005448.2(BMP15):c.1011C>T (p.His337=) rs151223850
NM_005448.2(BMP15):c.13A>C (p.Ser5Arg) rs113099187
NM_005448.2(BMP15):c.162C>T (p.Gly54=)
NM_005448.2(BMP15):c.308A>G (p.Asn103Ser) rs41308602
NM_005448.2(BMP15):c.538G>A (p.Ala180Thr) rs104894767
NM_005448.2(BMP15):c.598C>T (p.His200Tyr) rs202165852
NM_005448.2(BMP15):c.819A>C (p.Ser273=) rs73488038
NM_005448.2(BMP15):c.852C>T (p.Ser284=) rs17003221

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