ClinVar Miner

Variants with conflicting interpretations studied for Maturity-onset diabetes of the young type 1

Coded as:
Minimum review status of the submission for Maturity-onset diabetes of the young type 1: Collection method of the submission for Maturity-onset diabetes of the young type 1:
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
65 38 9 32 53 0 11 101

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 type 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 10 3 0 0
likely pathogenic 5 4 7 0 0
uncertain significance 1 5 5 10 40
likely benign 0 0 3 0 18
benign 0 0 3 8 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 0 36 9 31 52 0 10 98
Maturity-onset diabetes of the young type 1 186 6 0 9 2 0 2 12

All variants with conflicting interpretations #

Total variants: 101
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HGVS dbSNP gnomAD frequency
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_175914.5(HNF4A):c.*3086C>T rs551080524 0.00706
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) rs113308087 0.00602
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_175914.5(HNF4A):c.744C>T (p.Asp248=) rs6031592 0.00243
NM_175914.5(HNF4A):c.*1078G>A rs573432571 0.00233
NM_175914.5(HNF4A):c.*1293C>T rs182919150 0.00193
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_175914.5(HNF4A):c.84G>A (p.Ala28=) rs41282026 0.00084
NM_175914.5(HNF4A):c.426+6G>A rs182980547 0.00070
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_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_175914.5(HNF4A):c.*3013A>G rs773868595 0.00020
NM_175914.5(HNF4A):c.*977C>G rs367907885 0.00019
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_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_175914.5(HNF4A):c.427-5C>T rs374703326 0.00009
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.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_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_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_175914.5(HNF4A):c.*867G>A rs940169046 0.00002
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.1198C>T (p.Arg400Ter) rs1413742263 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.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_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.1187G>C (p.Cys396Ser) rs193922470
NM_175914.5(HNF4A):c.201del (p.Lys68fs) rs1385251852
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.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.926G>T (p.Arg309Leu) rs369429452
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127

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