ClinVar Miner

List of variants reported as pathogenic for endometrial disorder

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 203
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HGVS dbSNP gnomAD frequency
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe) rs28756990 0.02049
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021 0.00003
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042 0.00002
NM_000179.3(MSH6):c.1168del (p.Asp390fs) rs753796271 0.00002
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val) rs121964871 0.00002
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro) rs63750741 0.00001
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter) rs63750909 0.00001
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp) rs587779227 0.00001
NM_000179.3(MSH6):c.220G>T (p.Gly74Ter) rs1553408388 0.00001
NM_000179.3(MSH6):c.2504del (p.Gln835fs) rs1572727440 0.00001
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999 0.00001
NM_000179.3(MSH6):c.3487G>T (p.Glu1163Ter) rs587779267 0.00001
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs) rs63751327 0.00001
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer) rs63750767 0.00001
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter) rs63749873 0.00001
NM_000179.3(MSH6):c.651dup (p.Lys218Ter) rs63750955 0.00001
NM_000179.3(MSH6):c.742del (p.Arg248fs) rs587781691 0.00001
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935 0.00001
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617 0.00001
NM_000535.7(PMS2):c.538-1G>C rs988423880 0.00001
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) rs587780784 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.3250C>T (p.Gln1084Ter) rs1386063673
NM_000051.4(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000057.4(BLM):c.3254dup (p.Arg1086fs)
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs) rs80359493
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs) rs80359605
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1139_1143del (p.Asp380fs) rs587779206
NM_000179.3(MSH6):c.1168_1170delinsAA (p.Asp390fs) rs863225398
NM_000179.3(MSH6):c.1185_1186del (p.Tyr397fs) rs1572722039
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs) rs63750439
NM_000179.3(MSH6):c.1238G>A (p.Trp413Ter) rs786201049
NM_000179.3(MSH6):c.1352del (p.Phe451fs) rs869312769
NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs) rs63750854
NM_000179.3(MSH6):c.1430dup (p.Tyr478fs) rs1114167746
NM_000179.3(MSH6):c.1458_1459del (p.Glu487fs) rs1114167750
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.3(MSH6):c.1571dup (p.Tyr524Ter) rs1553412966
NM_000179.3(MSH6):c.1610_1613del (p.Lys537fs) rs863224829
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs) rs267608064
NM_000179.3(MSH6):c.1634_1637del (p.Lys545fs) rs63749874
NM_000179.3(MSH6):c.1637_1638del (p.Glu546fs) rs267608076
NM_000179.3(MSH6):c.1705_1706del (p.Phe569fs) rs587783056
NM_000179.3(MSH6):c.1714C>T (p.Gln572Ter) rs1064795256
NM_000179.3(MSH6):c.1767del (p.Pro591fs) rs1114167765
NM_000179.3(MSH6):c.1772del (p.Pro591fs) rs786202108
NM_000179.3(MSH6):c.1806_1809del (p.Glu604fs) rs63750735
NM_000179.3(MSH6):c.1815_1816del (p.Lys606fs) rs1060502886
NM_000179.3(MSH6):c.1842del (p.Cys615fs) rs730881825
NM_000179.3(MSH6):c.1969del (p.Gln657fs) rs876661205
NM_000179.3(MSH6):c.2028_2029del (p.Lys676_Ser677insTer) rs1064794055
NM_000179.3(MSH6):c.2059dup (p.Cys687fs)
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter) rs267608068
NM_000179.3(MSH6):c.2062_2063del (p.Val688fs) rs63750075
NM_000179.3(MSH6):c.2079del (p.Lys693fs) rs267608083
NM_000179.3(MSH6):c.2079dup (p.Cys694fs) rs267608083
NM_000179.3(MSH6):c.2105C>G (p.Ser702Ter) rs63751419
NM_000179.3(MSH6):c.2127T>A (p.Tyr709Ter) rs587779232
NM_000179.3(MSH6):c.2147_2148del (p.Thr716fs) rs786204048
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs) rs267608058
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter) rs63751127
NM_000179.3(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.3(MSH6):c.2295C>A (p.Cys765Ter) rs63750985
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.3(MSH6):c.2348_2349del (p.Leu782_Cys783insTer) rs267608065
NM_000179.3(MSH6):c.2677_2678del (p.Leu893fs) rs1572728112
NM_000179.3(MSH6):c.2690dup (p.Asn897fs) rs1553414010
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter) rs587779246
NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs) rs730881827
NM_000179.3(MSH6):c.2848_2849del (p.Ser950fs) rs869312770
NM_000179.3(MSH6):c.2862C>G (p.Tyr954Ter) rs1064793671
NM_000179.3(MSH6):c.2906_2907del (p.Tyr969fs) rs786203924
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter) rs63750111
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter) rs63750563
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs) rs587782712
NM_000179.3(MSH6):c.3053_3054del (p.Leu1018fs) rs63751407
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs) rs1553414519
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer) rs267608042
NM_000179.3(MSH6):c.3140G>A (p.Trp1047Ter) rs1064794302
NM_000179.3(MSH6):c.3155_3156del (p.Glu1052fs) rs63750833
NM_000179.3(MSH6):c.3172+1G>T rs587779255
NM_000179.3(MSH6):c.3173-1_3173del rs587779256
NM_000179.3(MSH6):c.3173-2A>C rs1553331242
NM_000179.3(MSH6):c.3195_3199del (p.Asn1065fs) rs1384780420
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3311_3312del (p.Phe1104fs) rs267608092
NM_000179.3(MSH6):c.3312dup (p.Gly1105fs) rs267608092
NM_000179.3(MSH6):c.3416dup (p.Lys1140fs) rs587781544
NM_000179.3(MSH6):c.3439-1G>T rs587779263
NM_000179.3(MSH6):c.3439-2A>G rs267608098
NM_000179.3(MSH6):c.3464_3477dup (p.Val1160fs) rs2104504931
NM_000179.3(MSH6):c.3476dup (p.Tyr1159Ter) rs587782111
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter) rs398123231
NM_000179.3(MSH6):c.3477del (p.Cys1158_Tyr1159insTer) rs1114167767
NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs) rs63750194
NM_000179.3(MSH6):c.3516_3517del (p.Arg1172fs) rs398123232
NM_000179.3(MSH6):c.3573dup (p.Val1192fs) rs1057517764
NM_000179.3(MSH6):c.3619_3620del (p.His1207fs) rs1572741984
NM_000179.3(MSH6):c.3633dup (p.Val1212fs) rs587776706
NM_000179.3(MSH6):c.3647-2_3991del rs2104536268
NM_000179.3(MSH6):c.3690del (p.Val1231fs) rs730881829
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs) rs193922343
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del) rs63749942
NM_000179.3(MSH6):c.3743_3744insT (p.Tyr1249fs) rs786201084
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter) rs63751058
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs) rs267608114
NM_000179.3(MSH6):c.3804dup (p.Cys1269fs) rs267608118
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs) rs63751319
NM_000179.3(MSH6):c.3847_3850dup (p.Thr1284fs) rs267608128
NM_000179.3(MSH6):c.3922_3940dup (p.Gln1314fs) rs1553333598
NM_000179.3(MSH6):c.3934_3937dup (p.Ile1313fs) rs760190301
NM_000179.3(MSH6):c.3938_3941dup (p.Gln1314fs) rs267608126
NM_000179.3(MSH6):c.3939_3940dup (p.Gln1314fs) rs730881830
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs) rs267608120
NM_000179.3(MSH6):c.397_410del (p.Phe133fs) rs786202193
NM_000179.3(MSH6):c.3980_3981delinsTCAG (p.Asn1327fs) rs2104566954
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs) rs1553333738
NM_000179.3(MSH6):c.3980dup (p.Asn1327fs) rs587782326
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs) rs267608121
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.3(MSH6):c.3995T>G (p.Leu1332Ter)
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.426G>A (p.Trp142Ter) rs63750342
NM_000179.3(MSH6):c.578del (p.Leu193fs) rs587782281
NM_000179.3(MSH6):c.599C>G (p.Ser200Ter) rs63751077
NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter) rs1800937
NM_000179.3(MSH6):c.643del (p.Tyr214_Val215insTer) rs1553412064
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter) rs587779318
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter) rs63750019
NM_000179.3(MSH6):c.738_741del (p.Lys246fs) rs267608041
NM_000179.3(MSH6):c.741del (p.Lys247fs) rs267608041
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter) rs63749980
NM_000179.3(MSH6):c.755C>G (p.Ser252Ter) rs267608048
NM_000179.3(MSH6):c.845dup (p.Asp284fs) rs1553412283
NM_000179.3(MSH6):c.883A>T (p.Lys295Ter)
NM_000179.3(MSH6):c.885dup (p.Val296fs) rs1572720704
NM_000179.3(MSH6):c.964_967del (p.Ala322fs)
NM_000179.3(MSH6):c.976_977insTTGCG (p.Ala326fs) rs2104310469
NM_000179.3(MSH6):c.989C>A (p.Ser330Ter) rs786202848
NM_000249.4(MLH1):c.131_132delinsTT (p.Ser44Phe) rs2125710774
NM_000249.4(MLH1):c.1483dup (p.Thr495fs)
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1559-4_1667+63del rs2125943327
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.4(MLH1):c.588+1G>C rs267607772
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.4(MLH1):c.790+1G>A rs267607789
NM_000251.3(MSH2):c.1163dup (p.Asn388fs) rs2104439295
NM_000251.3(MSH2):c.1500dup (p.Arg501fs) rs587779094
NM_000251.3(MSH2):c.1566C>G (p.Tyr522Ter) rs63750224
NM_000251.3(MSH2):c.1661+5G>C rs267607972
NM_000251.3(MSH2):c.367-2_645+742del
NM_000251.3(MSH2):c.459del (p.Ala154fs) rs2104023773
NM_000251.3(MSH2):c.811_814del (p.Ser271fs) rs587779185
NM_000314.8(PTEN):c.1012del (p.Ser338fs) rs1564568660
NM_000314.8(PTEN):c.209+4_209+7del rs398123318
NM_000314.8(PTEN):c.253+1G>A rs587776667
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000535.7(PMS2):c.1A>T (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.2175-1335_2445+4del
NM_000535.7(PMS2):c.2184del (p.Leu729fs) rs1554294505
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2445+1763_*2del
NM_000535.7(PMS2):c.2446-170_*3del rs2128656455
NM_000535.7(PMS2):c.538-41_538-40insATTCCTATAATA rs2128802890
NM_000535.7(PMS2):c.804-267_903+2del rs2128774241
NM_000535.7(PMS2):c.904-199_988+2del rs2128754923
NM_000535.7(PMS2):c.989-1_1144+2del rs2128746824
NM_001040108.2(MLH3):c.885del (p.His296fs) rs1431264077
NM_002439.5(MSH3):c.1035del (p.Pro346_Leu347insTer) rs1580553607
NM_002439.5(MSH3):c.1060dup (p.Val354fs) rs1580553669
NM_002439.5(MSH3):c.1148del (p.Lys383fs) rs587776701
NM_002439.5(MSH3):c.1366G>T (p.Glu456Ter) rs963234468
NM_002439.5(MSH3):c.2319-1G>A rs866260675
NM_002439.5(MSH3):c.2760del (p.Tyr921fs) rs751326348
NM_002439.5(MSH3):c.3001-2A>G rs886037878
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter) rs587782798
NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs) rs886039612
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer) rs587781276
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter) rs876658932
NM_004360.5(CDH1):c.382del (p.His128fs) rs1555514492
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter) rs587781490

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