ClinVar Miner

List of variants reported as likely pathogenic for Ovarian Neoplasms

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ClinVar version:
Total variants: 178
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HGVS dbSNP
NM_000051.3(ATM):c.9023G>A (p.Arg3008His) rs587781894
NM_000059.3(BRCA2):c.9648+2T>C rs1566260318
NM_000179.2(MSH6):c.575_583del (p.Glu192_Ala194del) rs1558656674
NM_000314.7(PTEN):c.1027-1G>A rs1057517809
NM_000314.7(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.7(PTEN):c.209+4_209+7del rs398123318
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.7(PTEN):c.403A>G (p.Ile135Val) rs587782360
NM_000314.7(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.7(PTEN):c.509G>T (p.Ser170Ile) rs876660507
NM_000314.7(PTEN):c.518G>T (p.Arg173Leu) rs121913294
NM_000314.7(PTEN):c.70G>C (p.Asp24His) rs786201995
NM_000465.4(BARD1):c.1314G>T (p.Lys438Asn) rs1559423185
NM_000546.5(TP53):c.1009C>T (p.Arg337Cys) rs587782529
NM_000546.5(TP53):c.1010G>T (p.Arg337Leu) rs121912664
NM_000546.5(TP53):c.1025G>C (p.Arg342Pro) rs375338359
NM_000546.5(TP53):c.314G>T (p.Gly105Val) rs587781504
NM_000546.5(TP53):c.326T>G (p.Phe109Cys) rs1064796722
NM_000546.5(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.5(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_000546.5(TP53):c.338T>G (p.Phe113Cys) rs1567555667
NM_000546.5(TP53):c.358A>G (p.Lys120Glu) rs121912658
NM_000546.5(TP53):c.375+1G>A rs1567555445
NM_000546.5(TP53):c.375+5G>A rs1555526466
NM_000546.5(TP53):c.375+5G>T rs1555526466
NM_000546.5(TP53):c.376-1G>A rs868137297
NM_000546.5(TP53):c.376-2A>G rs786202799
NM_000546.5(TP53):c.376-2A>T rs786202799
NM_000546.5(TP53):c.376T>G (p.Tyr126Asp) rs886039483
NM_000546.5(TP53):c.377A>G (p.Tyr126Cys) rs1555526335
NM_000546.5(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.5(TP53):c.395A>G (p.Lys132Arg) rs1057519996
NM_000546.5(TP53):c.396G>T (p.Lys132Asn) rs866775781
NM_000546.5(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_000546.5(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.5(TP53):c.431A>C (p.Gln144Pro) rs786203071
NM_000546.5(TP53):c.434T>A (p.Leu145Gln) rs587782197
NM_000546.5(TP53):c.434T>C (p.Leu145Pro) rs587782197
NM_000546.5(TP53):c.443_460dup (p.Asp148_Pro153dup) rs1567553717
NM_000546.5(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.5(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_000546.5(TP53):c.458_466del (p.Pro153_Thr155del) rs1567553613
NM_000546.5(TP53):c.467G>C (p.Arg156Pro) rs371524413
NM_000546.5(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_000546.5(TP53):c.475G>C (p.Ala159Pro) rs730882000
NM_000546.5(TP53):c.481G>A (p.Ala161Thr) rs193920817
NM_000546.5(TP53):c.488A>G (p.Tyr163Cys) rs148924904
NM_000546.5(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.5(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.5(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.5(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_000546.5(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.5(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_000546.5(TP53):c.526T>G (p.Cys176Gly) rs967461896
NM_000546.5(TP53):c.526_528delinsCGG (p.Cys176Arg) rs1567552847
NM_000546.5(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.5(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_000546.5(TP53):c.536A>G (p.His179Arg) rs1057519991
NM_000546.5(TP53):c.560-1G>A rs1202793339
NM_000546.5(TP53):c.560-1G>C rs1202793339
NM_000546.5(TP53):c.560-3T>G rs763746485
NM_000546.5(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.5(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.5(TP53):c.581T>A (p.Leu194His) rs1057519998
NM_000546.5(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_000546.5(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.5(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.5(TP53):c.590T>A (p.Val197Glu) rs1567551903
NM_000546.5(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.5(TP53):c.644G>T (p.Ser215Ile) rs587782177
NM_000546.5(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.5(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.5(TP53):c.646G>T (p.Val216Leu) rs730882025
NM_000546.5(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_000546.5(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_000546.5(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_000546.5(TP53):c.672+1G>T rs863224499
NM_000546.5(TP53):c.673-2A>G rs1555525585
NM_000546.5(TP53):c.695T>G (p.Ile232Ser) rs587781589
NM_000546.5(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_000546.5(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.5(TP53):c.707A>G (p.Tyr236Cys) rs730882026
NM_000546.5(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_000546.5(TP53):c.711G>T (p.Met237Ile) rs587782664
NM_000546.5(TP53):c.712T>G (p.Cys238Gly) rs1057519981
NM_000546.5(TP53):c.712_738del (p.Cys238_Met246del) rs1567549353
NM_000546.5(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_000546.5(TP53):c.721T>C (p.Ser241Pro) rs1057520002
NM_000546.5(TP53):c.722C>A (p.Ser241Tyr) rs28934573
NM_000546.5(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.5(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.5(TP53):c.725G>A (p.Cys242Tyr) rs121912655
NM_000546.5(TP53):c.725G>T (p.Cys242Phe) rs121912655
NM_000546.5(TP53):c.727_782+21dup rs1567548789
NM_000546.5(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.5(TP53):c.731G>T (p.Gly244Val) rs985033810
NM_000546.5(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.5(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.5(TP53):c.736A>G (p.Met246Val) rs483352695
NM_000546.5(TP53):c.737T>C (p.Met246Thr) rs587780074
NM_000546.5(TP53):c.740A>T (p.Asn247Ile) rs786201762
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_000546.5(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_000546.5(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.5(TP53):c.751A>C (p.Ile251Leu) rs730882007
NM_000546.5(TP53):c.763A>T (p.Ile255Phe) rs1057519995
NM_000546.5(TP53):c.770T>A (p.Leu257Gln) rs28934577
NM_000546.5(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.5(TP53):c.775G>T (p.Asp259Tyr) rs1567548929
NM_000546.5(TP53):c.782+1G>A rs1555525429
NM_000546.5(TP53):c.782+1G>T rs1555525429
NM_000546.5(TP53):c.783-1G>T rs1555525367
NM_000546.5(TP53):c.796G>A (p.Gly266Arg) rs1057519990
NM_000546.5(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.5(TP53):c.808T>A (p.Phe270Ile) rs1057519988
NM_000546.5(TP53):c.808T>C (p.Phe270Leu) rs1057519988
NM_000546.5(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.5(TP53):c.817C>G (p.Arg273Gly) rs121913343
NM_000546.5(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.5(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.5(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_000546.5(TP53):c.824G>T (p.Cys275Phe) rs863224451
NM_000546.5(TP53):c.825T>G (p.Cys275Trp) rs1555525279
NM_000546.5(TP53):c.826G>C (p.Ala276Pro) rs1131691029
NM_000546.5(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_000546.5(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.5(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.5(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_000546.5(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_000546.5(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_000546.5(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.5(TP53):c.840A>C (p.Arg280Ser) rs1567547687
NM_000546.5(TP53):c.841G>A (p.Asp281Asn) rs764146326
NM_000546.5(TP53):c.843C>A (p.Asp281Glu) rs1057519984
NM_000546.5(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_000546.5(TP53):c.844C>G (p.Arg282Gly) rs28934574
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.5(TP53):c.845_889del (p.Arg282_His296del) rs1567547066
NM_000546.5(TP53):c.919+1G>C rs1131691039
NM_000546.5(TP53):c.920-1G>A rs587781702
NM_000546.5(TP53):c.920-1G>T rs587781702
NM_000546.5(TP53):c.920-2A>G rs397516439
NM_000546.5(TP53):c.97-2del rs1567557258
NM_000546.5(TP53):c.993+1G>A rs11575997
NM_000546.5(TP53):c.993+1G>T rs11575997
NM_000546.5(TP53):c.994-22_1003del rs1567542245
NM_001114121.2(CHEK1):c.66-2A>T rs1314180672
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) rs28931589
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) rs121913403
NM_001904.4(CTNNB1):c.110C>T (p.Ser37Phe) rs121913403
NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys) rs121913400
NM_002878.3(RAD51D):c.345+1G>A rs1567728636
NM_002878.3(RAD51D):c.576+1G>A rs781161543
NM_004333.6(BRAF):c.1396G>A (p.Gly466Arg) rs121913353
NM_005732.4(RAD50):c.1794-1G>T rs587781742
NM_005921.2(MAP3K1):c.2512_2523del (p.Leu838_Leu841del) rs1561199329
NM_006218.4(PIK3CA):c.1031T>G (p.Val344Gly) rs1057519941
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) rs1057519925
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro) rs397517201
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln) rs121913287
NM_007294.3(BRCA1):c.4093T>G (p.Leu1365Val) rs1567788936
NM_007294.3(BRCA1):c.5074G>C (p.Asp1692His) rs80187739
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.5333-1G>T rs80358126
NM_024675.3(PALB2):c.108G>A (p.Gln36=) rs1567224146
NM_024675.3(PALB2):c.1648_1659del (p.Lys550_His553del) rs1567220542
NM_024675.3(PALB2):c.2587-2A>G rs1060502787
NM_024675.3(PALB2):c.3113+5G>C rs876659463
NM_032043.2(BRIP1):c.2379G>T (p.Gln793His) rs1567779336
NM_058216.3(RAD51C):c.1026+1G>C rs1567817516
NM_058216.3(RAD51C):c.706-2A>G rs587780259

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