ClinVar Miner

Variants with conflicting interpretations studied for Maturity-onset diabetes of the young

Coded as:
Minimum review status of the submission for Maturity-onset diabetes of the young: Collection method of the submission for Maturity-onset diabetes of the young:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
1696 90 21 101 68 0 32 217

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Maturity-onset diabetes of the young pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 30 3 0 0
likely pathogenic 34 10 23 3 2
uncertain significance 4 22 11 15 5
likely benign 0 3 23 0 55
benign 0 2 44 61 0

Condition to condition summary #

Total conditions: 2
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
Maturity-onset diabetes of the young 1813 56 13 79 18 0 25 134
Maturity-onset diabetes of the young type 1 0 36 9 31 52 0 10 98

All variants with conflicting interpretations #

Total variants: 217
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.51C>G (p.Leu17=) rs1169289 0.42543
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=) rs2259820 0.26141
NM_175914.5(HNF4A):c.*242T>C rs41282030 0.04068
NM_175914.5(HNF4A):c.*305A>G rs56343153 0.03799
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) rs1800574 0.02065
NM_175914.5(HNF4A):c.*3086C>T rs551080524 0.00706
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) rs113308087 0.00602
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00416
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_175914.5(HNF4A):c.696C>T (p.His232=) rs150078978 0.00340
NM_175914.5(HNF4A):c.*1127T>C rs757386171 0.00337
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00319
NM_000162.5(GCK):c.46-12C>T rs142829768 0.00296
NM_000545.8(HNF1A):c.276C>T (p.Leu92=) rs34056805 0.00255
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) rs6031592 0.00243
NM_000545.8(HNF1A):c.*5G>A rs112986697 0.00237
NM_175914.5(HNF4A):c.*1078G>A rs573432571 0.00233
NM_000545.8(HNF1A):c.1425G>A (p.Pro475=) rs145589373 0.00232
NM_000458.4(HNF1B):c.444G>A (p.Ser148=) rs147218489 0.00216
NM_000545.8(HNF1A):c.252C>T (p.Pro84=) rs78772552 0.00215
NM_175914.5(HNF4A):c.*1293C>T rs182919150 0.00193
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu) rs139107479 0.00127
NM_000162.5(GCK):c.660C>T (p.Cys220=) rs142952813 0.00107
NM_000545.8(HNF1A):c.1722C>A (p.Ser574Arg) rs141304623 0.00103
NM_175914.5(HNF4A):c.*1013G>A rs767537996 0.00103
NM_175914.5(HNF4A):c.*3143G>T rs535731605 0.00101
NM_175914.5(HNF4A):c.*277T>C rs149998598 0.00099
NM_175914.5(HNF4A):c.*3153C>A rs569302875 0.00087
NM_000545.8(HNF1A):c.156C>T (p.Gly52=) rs150195625 0.00086
NM_175914.5(HNF4A):c.84G>A (p.Ala28=) rs41282026 0.00084
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_000545.8(HNF1A):c.210C>T (p.Ser70=) rs146686581 0.00061
NM_175914.5(HNF4A):c.427-20C>T rs184217112 0.00058
NM_175914.5(HNF4A):c.1032T>A (p.Ile344=) rs145880201 0.00056
NM_175914.5(HNF4A):c.*271C>T rs11574745 0.00055
NM_175914.5(HNF4A):c.*2992C>T rs770250175 0.00049
NM_175914.5(HNF4A):c.138G>A (p.Thr46=) rs145845882 0.00043
NM_175914.5(HNF4A):c.*1395C>T rs568456380 0.00042
NM_175914.5(HNF4A):c.*2153T>C rs760628227 0.00039
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=) rs193922584 0.00036
NM_000545.8(HNF1A):c.336G>A (p.Pro112=) rs371365341 0.00036
NM_175914.5(HNF4A):c.582+4A>G rs376287515 0.00034
NM_175914.5(HNF4A):c.1176C>T (p.Asn392=) rs141448616 0.00033
NM_175914.5(HNF4A):c.*764C>T rs537782818 0.00029
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00027
NM_175914.5(HNF4A):c.*547G>A rs1031904976 0.00026
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_000545.8(HNF1A):c.1386C>T (p.Val462=) rs143015301 0.00024
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=) rs144249535 0.00021
NM_175914.5(HNF4A):c.427-4G>A rs146751799 0.00021
NM_000545.8(HNF1A):c.1108-4G>A rs372892932 0.00020
NM_175914.5(HNF4A):c.*3013A>G rs773868595 0.00020
NM_000545.8(HNF1A):c.-4A>G rs561269721 0.00019
NM_175914.5(HNF4A):c.*977C>G rs367907885 0.00019
NM_175914.5(HNF4A):c.576C>T (p.Asp192=) rs759574096 0.00019
NM_000458.4(HNF1B):c.852C>T (p.His284=) rs149581999 0.00018
NM_000545.8(HNF1A):c.1500C>T (p.His500=) rs201694197 0.00017
NM_000545.8(HNF1A):c.693G>A (p.Thr231=) rs145240086 0.00017
NM_175914.5(HNF4A):c.*1087G>C rs540463510 0.00016
NM_175914.5(HNF4A):c.50-4753G>A rs566155738 0.00016
NM_175914.5(HNF4A):c.582+12C>T rs372596032 0.00016
NM_175914.5(HNF4A):c.*2193T>C rs148871044 0.00015
NM_000162.5(GCK):c.213C>T (p.Val71=) rs143128547 0.00014
NM_175914.5(HNF4A):c.*1364G>A rs187923731 0.00014
NM_175914.5(HNF4A):c.*3068C>T rs753843962 0.00014
NM_175914.5(HNF4A):c.*2374G>C rs373068234 0.00013
NM_175914.5(HNF4A):c.*1363C>T rs769165584 0.00012
NM_000162.5(GCK):c.9C>T (p.Asp3=) rs142553382 0.00011
NM_000162.5(GCK):c.393C>T (p.Ser131=) rs139139350 0.00009
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=) rs751225159 0.00009
NM_000545.8(HNF1A):c.225C>T (p.Asp75=) rs202180554 0.00009
NM_175914.5(HNF4A):c.427-5C>T rs374703326 0.00009
NM_000545.8(HNF1A):c.1593C>T (p.Ser531=) rs370300688 0.00008
NM_175914.5(HNF4A):c.*1616G>A rs886056685 0.00008
NM_175914.5(HNF4A):c.*1821C>T rs886056686 0.00008
NM_175914.5(HNF4A):c.-83C>T rs879092890 0.00008
NM_175914.5(HNF4A):c.408G>A (p.Ala136=) rs374298096 0.00008
NM_000458.4(HNF1B):c.420C>T (p.Val140=) rs370134885 0.00007
NM_000458.4(HNF1B):c.660T>C (p.Asp220=) rs779375959 0.00007
NM_000458.4(HNF1B):c.36C>T (p.Leu12=) rs749370057 0.00006
NM_000545.8(HNF1A):c.99G>A (p.Pro33=) rs538619966 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_175914.5(HNF4A):c.381G>A (p.Leu127=) rs193922473 0.00006
NM_175914.5(HNF4A):c.624C>T (p.Leu208=) rs759084238 0.00006
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys) rs140068774 0.00005
NM_000458.4(HNF1B):c.1654-4G>A rs193922485 0.00005
NM_000545.8(HNF1A):c.954C>T (p.His318=) rs193922607 0.00005
NM_000162.5(GCK):c.834C>T (p.Asp278=) rs200071687 0.00004
NM_000458.4(HNF1B):c.1539C>T (p.Tyr513=) rs780554506 0.00004
NM_000545.8(HNF1A):c.1383C>T (p.Pro461=) rs772756175 0.00004
NM_175914.5(HNF4A):c.*1828G>A rs759101859 0.00004
NM_175914.5(HNF4A):c.*1C>A rs201330472 0.00004
NM_175914.5(HNF4A):c.50-4700G>A rs568730599 0.00004
NM_000162.5(GCK):c.198A>G (p.Pro66=) rs377410513 0.00003
NM_000458.4(HNF1B):c.9C>T (p.Ser3=) rs773256244 0.00003
NM_000545.8(HNF1A):c.1800C>T (p.Ser600=) rs756416683 0.00003
NM_175914.5(HNF4A):c.*168G>T rs1045382698 0.00003
NM_175914.5(HNF4A):c.*2297C>A rs1341485123 0.00003
NM_175914.5(HNF4A):c.*2779A>C rs755438203 0.00003
NM_175914.5(HNF4A):c.*572C>A rs761017274 0.00003
NM_175914.5(HNF4A):c.1097C>G (p.Pro366Arg) rs193922469 0.00003
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys) rs748714111 0.00003
NM_175914.5(HNF4A):c.924G>T (p.Ser308=) rs140146223 0.00003
NM_000458.4(HNF1B):c.100C>T (p.Leu34=) rs373201245 0.00002
NM_000545.8(HNF1A):c.216C>T (p.Asp72=) rs148961412 0.00002
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met) rs774637975 0.00002
NM_000545.8(HNF1A):c.978G>A (p.Ala326=) rs200351196 0.00002
NM_175914.5(HNF4A):c.*867G>A rs940169046 0.00002
NM_175914.5(HNF4A):c.1302C>T (p.Ile434=) rs199884828 0.00002
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys) rs193922397 0.00001
NM_000458.4(HNF1B):c.345-11T>G rs200782591 0.00001
NM_000545.8(HNF1A):c.1695C>T (p.Leu565=) rs762669462 0.00001
NM_000545.8(HNF1A):c.246G>A (p.Thr82=) rs752243228 0.00001
NM_000545.8(HNF1A):c.306C>T (p.Ala102=) rs1486966222 0.00001
NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys) rs774996577 0.00001
NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln) rs893256143 0.00001
NM_000545.8(HNF1A):c.608G>A (p.Arg203His) rs587780357 0.00001
NM_000545.8(HNF1A):c.775G>A (p.Val259Ile) rs778074427 0.00001
NM_000545.8(HNF1A):c.780G>A (p.Thr260=) rs749633685 0.00001
NM_175914.5(HNF4A):c.*217C>T rs1019701119 0.00001
NM_175914.5(HNF4A):c.*2511A>G rs1277613130 0.00001
NM_175914.5(HNF4A):c.*2558T>C rs886056688 0.00001
NM_175914.5(HNF4A):c.*2639T>G rs886056690 0.00001
NM_175914.5(HNF4A):c.*3120T>C rs886056704 0.00001
NM_175914.5(HNF4A):c.*765G>A rs886056681 0.00001
NM_175914.5(HNF4A):c.*782G>A rs886056682 0.00001
NM_175914.5(HNF4A):c.1243C>T (p.Pro415Ser) rs150776703 0.00001
NM_175914.5(HNF4A):c.196G>A (p.Val66Met) rs369182343 0.00001
NM_175914.5(HNF4A):c.321C>T (p.Ala107=) rs138290205 0.00001
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile) rs377476335 0.00001
NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln) rs149611886 0.00001
NM_175914.5(HNF4A):c.481A>G (p.Ser161Gly) rs779555087 0.00001
NM_175914.5(HNF4A):c.489A>G (p.Ala163=) rs1568731613 0.00001
NM_175914.5(HNF4A):c.562G>A (p.Glu188Lys) rs771156648 0.00001
NM_175914.5(HNF4A):c.723G>C (p.Arg241=) rs372639360 0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) rs193922479 0.00001
NM_000162.5(GCK):c.1020-1G>A rs193922258
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) rs1064793134
NM_000162.5(GCK):c.1150G>A (p.Ala384Thr) rs1376620210
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp) rs2096271482
NM_000162.5(GCK):c.1233C>G (p.Ser411=) rs755112715
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.1310C>G (p.Thr437Ser) rs1185622190
NM_000162.5(GCK):c.207A>G (p.Ser69=) rs779548342
NM_000162.5(GCK):c.295del (p.Trp99fs) rs1554335752
NM_000162.5(GCK):c.316C>T (p.Gln106Ter) rs2096281702
NM_000162.5(GCK):c.364-1G>A rs1057521094
NM_000162.5(GCK):c.393del (p.Asp132fs) rs193922295
NM_000162.5(GCK):c.463A>G (p.Arg155Gly) rs193922301
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.5(GCK):c.542T>C (p.Val181Ala) rs193922306
NM_000162.5(GCK):c.554T>G (p.Leu185Arg) rs1583599749
NM_000162.5(GCK):c.566T>C (p.Ile189Thr) rs1554335441
NM_000162.5(GCK):c.608T>C (p.Val203Ala) rs1562717053
NM_000162.5(GCK):c.626C>T (p.Thr209Met) rs1583599303
NM_000162.5(GCK):c.630G>T (p.Met210Ile) rs193922313
NM_000162.5(GCK):c.645C>A (p.Tyr215Ter) rs144723656
NM_000162.5(GCK):c.737G>C (p.Gly246Ala) rs1583596522
NM_000162.5(GCK):c.776C>T (p.Ala259Val) rs1554335132
NM_000162.5(GCK):c.863+3A>G rs193922334
NM_000162.5(GCK):c.911T>C (p.Leu304Pro) rs1554334894
NM_000162.5(GCK):c.941T>C (p.Leu314Pro) rs1554334886
NM_000458.4(HNF1B):c.1338A>G (p.Gln446=) rs776536485
NM_000458.4(HNF1B):c.157G>T (p.Gly53Trp) rs2034119580
NM_000458.4(HNF1B):c.202G>C (p.Gly68Arg) rs767576616
NM_000458.4(HNF1B):c.494G>A (p.Arg165His) rs121918675
NM_000545.8(HNF1A):c.1129del (p.Leu377fs) rs193922576
NM_000545.8(HNF1A):c.1136_1137del (p.Pro379fs) rs1593060890
NM_000545.8(HNF1A):c.1137del (p.Val380fs) rs1555212248
NM_000545.8(HNF1A):c.130del (p.Leu44fs) rs193922578
NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs) rs776793516
NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del) rs544842497
NM_000545.8(HNF1A):c.1502-6G>A rs1458430820
NM_000545.8(HNF1A):c.155_156delinsCT (p.Gly52Ala) rs587778393
NM_000545.8(HNF1A):c.1747_1766del (p.Arg583fs) rs1592898255
NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu) rs193922593
NM_000545.8(HNF1A):c.527-1G>A rs1555211904
NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter) rs1876084046
NM_000545.8(HNF1A):c.607C>T (p.Arg203Cys) rs1180119907
NM_000545.8(HNF1A):c.620G>A (p.Gly207Asp) rs1555211922
NM_000545.8(HNF1A):c.703G>C (p.Glu235Gln) rs1353807357
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met) rs886039544
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys) rs1555212014
NM_000545.8(HNF1A):c.815G>A (p.Arg272His) rs137853238
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs) rs1593058932
NM_175914.5(HNF4A):c.*1106G>A rs753675648
NM_175914.5(HNF4A):c.*145T>A rs200905283
NM_175914.5(HNF4A):c.*1809C>G rs2063876979
NM_175914.5(HNF4A):c.*1826G>A rs1763003018
NM_175914.5(HNF4A):c.*2167T>G rs886056687
NM_175914.5(HNF4A):c.*226C>A rs886056680
NM_175914.5(HNF4A):c.*2782A>C rs1192263020
NM_175914.5(HNF4A):c.*3024C>T rs886056702
NM_175914.5(HNF4A):c.*3104A>C rs886056703
NM_175914.5(HNF4A):c.*35C>A rs1019496764
NM_175914.5(HNF4A):c.*965G>T rs886056683
NM_175914.5(HNF4A):c.*987G>T rs886056684
NM_175914.5(HNF4A):c.101T>A (p.Val34Asp) rs2063496235
NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser) rs193922470
NM_175914.5(HNF4A):c.201del (p.Lys68fs) rs1385251852
NM_175914.5(HNF4A):c.221G>A (p.Cys74Tyr) rs1555813342
NM_175914.5(HNF4A):c.224+2T>C rs1057524790
NM_175914.5(HNF4A):c.224G>A (p.Arg75Lys) rs1131692187
NM_175914.5(HNF4A):c.427-1G>A rs1568731279
NM_175914.5(HNF4A):c.470AGA[1] (p.Lys158del) rs1280663753
NM_175914.5(HNF4A):c.498T>A (p.Cys166Ter) rs1555815393
NM_175914.5(HNF4A):c.50-4630T>C rs2063407237
NM_175914.5(HNF4A):c.553G>C (p.Ala185Pro) rs193922474
NM_175914.5(HNF4A):c.575_582+10del rs193922475
NM_175914.5(HNF4A):c.582+1G>A rs1392795567
NM_175914.5(HNF4A):c.640T>A (p.Ser214Thr) rs1060499693
NM_175914.5(HNF4A):c.660_662delinsTCAA (p.Leu221fs) rs193922476
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) rs376013528
NM_175914.5(HNF4A):c.869G>A (p.Arg290His) rs1191912908
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127

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