ClinVar Miner

Variants with conflicting interpretations studied for Renal dysplasia and retinal aplasia

Coded as:
Minimum review status of the submission for Renal dysplasia and retinal aplasia: Y axis collection method of the submission for Renal dysplasia and retinal aplasia:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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 Variants with at least 2 submissions 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 kind of conflict
25 171 0 30 42 0 2 73

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
Renal dysplasia and retinal aplasia pathogenic likely pathogenic likely benign benign
uncertain significance 0 1 28 24
likely benign 1 0 0 28
benign 0 0 2 0

Condition to condition summary #

Total conditions: 6
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
not specified 0 14 0 26 35 0 0 61
Nephronophthisis 0 97 0 14 14 0 1 29
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 0 3 0 6 13 0 0 19
not provided 0 49 0 2 4 0 1 7
Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 0 2 0 1 1 0 0 2
Joubert syndrome 5 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 73
Download table as spreadsheet
HGVS dbSNP
NM_000272.3(NPHP1):c.1121C>T (p.Thr374Ile) rs140469160
NM_000272.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626
NM_000272.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114
NM_000272.3(NPHP1):c.1637G>A (p.Arg546Lys) rs149887461
NM_000272.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520
NM_000272.3(NPHP1):c.654G>A (p.Glu218=) rs11675767
NM_000272.3(NPHP1):c.810C>T (p.Cys270=) rs73954628
NM_000272.3(NPHP1):c.830G>A (p.Arg277Gln) rs143174377
NM_001023570.3(IQCB1):c.1178T>A (p.Ile393Asn) rs1141528
NM_001023570.3(IQCB1):c.1303C>T (p.Arg435Cys) rs11920543
NM_001023570.3(IQCB1):c.1549A>T (p.Asn517Tyr) rs139468837
NM_006642.4(SDCCAG8):c.267T>C (p.Ser89=) rs148818431
NM_006642.4(SDCCAG8):c.279G>A (p.Pro93=) rs145877279
NM_006642.4(SDCCAG8):c.912C>T (p.Thr304=) rs976529
NM_015102.3(NPHP4):c.1196A>G (p.Glu399Gly) rs117898549
NM_015102.4(NPHP4):c.136-4delC rs143323188
NM_015102.4(NPHP4):c.1441+13A>G rs7520105
NM_015102.4(NPHP4):c.1442-7C>T rs146078470
NM_015102.4(NPHP4):c.1470C>T (p.Leu490=) rs12116997
NM_015102.4(NPHP4):c.1490C>G (p.Pro497Arg) rs375051705
NM_015102.4(NPHP4):c.1611+9C>T rs114900019
NM_015102.4(NPHP4):c.1622C>T (p.Pro541Leu) rs145255635
NM_015102.4(NPHP4):c.1631C>G (p.Ala544Gly) rs12093500
NM_015102.4(NPHP4):c.1926G>A (p.Glu642=) rs12120967
NM_015102.4(NPHP4):c.1966G>A (p.Asp656Asn) rs191602135
NM_015102.4(NPHP4):c.2031C>T (p.Pro677=) rs34373111
NM_015102.4(NPHP4):c.2219G>A (p.Arg740His) rs34248917
NM_015102.4(NPHP4):c.2257G>A (p.Asp753Asn) rs148424288
NM_015102.4(NPHP4):c.2557G>T (p.Asp853Tyr) rs199875059
NM_015102.4(NPHP4):c.2643G>A (p.Ala881=) rs3747990
NM_015102.4(NPHP4):c.2724G>A (p.Ser908=) rs114545322
NM_015102.4(NPHP4):c.279+11G>A rs113902159
NM_015102.4(NPHP4):c.2808G>A (p.Thr936=) rs17028857
NM_015102.4(NPHP4):c.2820G>A (p.Ala940=) rs35575973
NM_015102.4(NPHP4):c.2868C>T (p.Ala956=) rs138025088
NM_015102.4(NPHP4):c.2876G>A (p.Arg959Gln) rs12084067
NM_015102.4(NPHP4):c.3243G>C (p.Gly1081=) rs41280800
NM_015102.4(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853
NM_015102.4(NPHP4):c.3479C>T (p.Pro1160Leu) rs113445782
NM_015102.4(NPHP4):c.3777G>A (p.Arg1259=) rs369566680
NM_015102.4(NPHP4):c.3876C>T (p.Gly1292=) rs115526767
NM_015102.4(NPHP4):c.4075C>T (p.Arg1359Trp) rs369162678
NM_015102.4(NPHP4):c.4114C>T (p.Leu1372=) rs374146357
NM_015102.4(NPHP4):c.4141-11C>T rs139203183
NM_015102.4(NPHP4):c.4237G>A (p.Asp1413Asn) rs115910810
NM_015102.4(NPHP4):c.86C>T (p.Thr29Met) rs12142270
NM_025114.3(CEP290):c.-41C>T rs759820573
NM_025114.3(CEP290):c.1092T>G (p.Ile364Met) rs201988582
NM_025114.3(CEP290):c.1624-5T>C rs142742071
NM_025114.3(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_025114.3(CEP290):c.2055T>C (p.Ala685=) rs45465996
NM_025114.3(CEP290):c.2484-8_2484-4dupGTTTT rs745522483
NM_025114.3(CEP290):c.251-10A>T rs190383141
NM_025114.3(CEP290):c.2512A>G (p.Lys838Glu) rs11104738
NM_025114.3(CEP290):c.2616G>A (p.Ser872=) rs776360559
NM_025114.3(CEP290):c.2717T>G (p.Leu906Trp) rs7970228
NM_025114.3(CEP290):c.3465G>A (p.Leu1155=) rs150138016
NM_025114.3(CEP290):c.3654T>C (p.Leu1218=) rs201838492
NM_025114.3(CEP290):c.3710G>A (p.Arg1237His) rs7307793
NM_025114.3(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038
NM_025114.3(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.3(CEP290):c.4119A>G (p.Lys1373=) rs117122459
NM_025114.3(CEP290):c.4151G>A (p.Arg1384His) rs143152287
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.4806G>A (p.Thr1602=) rs201614215
NM_025114.3(CEP290):c.503G>A (p.Arg168His) rs200063017
NM_025114.3(CEP290):c.5199A>G (p.Gln1733=) rs79644671
NM_025114.3(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_025114.3(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_025114.3(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025114.3(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236
NM_025114.3(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143
NM_025114.3(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433

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