ClinVar Miner

Variants with conflicting interpretations studied for Leber congenital amaurosis

Coded as:
Minimum review status of the submission for Leber congenital amaurosis: Y axis collection method of the submission for Leber congenital amaurosis:
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
212 441 4 53 39 1 12 99

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
Leber congenital amaurosis pathogenic likely pathogenic uncertain significance likely benign benign other
pathogenic 3 6 3 0 0 0
likely pathogenic 5 0 2 0 0 1
uncertain significance 1 1 0 24 16 0
likely benign 5 0 5 1 42 0
benign 0 0 0 2 0 0

Condition to condition summary #

Total conditions: 26
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 41 28 0 0 69
not provided 0 67 1 14 10 1 1 25
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 0 3 0 6 13 0 0 19
Leber congenital amaurosis 4 0 0 1 2 1 0 2 5
Cone-rod dystrophy 13; Leber congenital amaurosis 6 0 1 0 2 2 0 0 4
Retinitis pigmentosa 12; Leber congenital amaurosis 8 0 1 0 3 0 0 0 3
Achromatopsia 3 0 1 1 1 0 0 0 2
Joubert syndrome 5 0 0 0 2 0 0 0 2
Leber congenital amaurosis 748 2 0 2 0 0 0 2
Leber congenital amaurosis 2; Retinitis pigmentosa 20 0 0 0 0 1 0 1 2
Bull's eye maculopathy 0 0 0 1 0 0 0 1
CRB1-Related Disorders 0 0 0 0 0 0 1 1
Cone-rod dystrophy 13 0 0 0 0 0 0 1 1
Leber congenital amaurosis 16 0 0 0 1 0 0 0 1
Leber congenital amaurosis 3 0 0 0 0 1 0 0 1
Leber congenital amaurosis 6 0 2 0 0 0 0 1 1
Leber congenital amaurosis 7; Cone-rod dystrophy 2 0 0 0 1 0 0 0 1
Leber congenital amaurosis 8 0 0 0 0 1 0 0 1
Leber congenital amaurosis 9 0 0 1 1 0 0 0 1
Macular degeneration 0 0 0 0 0 0 1 1
Oculoectodermal syndrome 0 0 0 0 0 0 1 1
Pigmented paravenous chorioretinal atrophy 0 44 0 0 0 0 1 1
Retinal dystrophy 0 53 0 1 0 0 0 1
Retinitis pigmentosa 0 0 0 0 0 0 1 1
Retinitis pigmentosa 30 0 0 0 0 0 0 1 1
Stargardt Disease, Recessive 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 99
Download table as spreadsheet
HGVS dbSNP
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_000329.2(RPE65):c.1056G>A (p.Glu352=) rs12145904
NM_000329.2(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586
NM_000329.2(RPE65):c.419G>A (p.Gly140Glu) rs1191496583
NM_000329.2(RPE65):c.48T>C (p.Phe16=) rs62642581
NM_000350.2(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.2(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000554.4(CRX):c.365G>A (p.Gly122Asp) rs61748441
NM_000554.5(CRX):c.196G>A (p.Val66Ile) rs61748438
NM_000554.5(CRX):c.253-15G>A rs145805694
NM_000554.5(CRX):c.472G>A (p.Ala158Thr) rs61748445
NM_000883.3(IMPDH1):c.1108G>A (p.Ala370Thr) rs72624961
NM_000883.3(IMPDH1):c.1405+9A>G rs11562030
NM_001023570.3(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001077182.2(FSCN2):c.72delG (p.Thr25Glnfs) rs376633374
NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile) rs863224884
NM_003322.4(TULP1):c.776T>C (p.Ile259Thr) rs2064317
NM_014336.4(AIPL1):c.-17C>A rs188246267
NM_014336.4(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484
NM_014336.4(AIPL1):c.267C>T (p.Cys89=) rs62653020
NM_014336.4(AIPL1):c.268G>C (p.Asp90His) rs12449580
NM_014336.4(AIPL1):c.277-10A>C rs12453262
NM_014336.4(AIPL1):c.286G>A (p.Val96Ile) rs62619924
NM_014336.4(AIPL1):c.300A>G (p.Leu100=) rs8075035
NM_014336.4(AIPL1):c.341C>T (p.Thr114Ile) rs8069375
NM_014336.4(AIPL1):c.516T>C (p.His172=) rs62637017
NM_014336.4(AIPL1):c.651A>G (p.Pro217=) rs2292546
NM_014336.4(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_014336.4(AIPL1):c.905G>T (p.Arg302Leu) rs62637015
NM_015041.2(CLUAP1):c.817C>T (p.Leu273Phe) rs751218423
NM_018418.4(SPATA7):c.220G>A (p.Val74Met) rs3179969
NM_018418.4(SPATA7):c.4G>A (p.Asp2Asn) rs4904448
NM_018418.4(SPATA7):c.729C>T (p.Arg243=) rs151338404
NM_018418.4(SPATA7):c.815G>A (p.Arg272Gln) rs34682727
NM_019098.4(CNGB3):c.1148delC (p.Thr383Ilefs) rs397515360
NM_019098.4(CNGB3):c.991-3T>G rs773372519
NM_020366.3(RPGRIP1):c.*10T>C rs80191010
NM_020366.3(RPGRIP1):c.1197C>T (p.Asn399=) rs372186092
NM_020366.3(RPGRIP1):c.1611G>A (p.Gln537=) rs1064797181
NM_020366.3(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259
NM_020366.3(RPGRIP1):c.1797G>A (p.Pro599=) rs9322965
NM_020366.3(RPGRIP1):c.1920C>T (p.Ala640=) rs368434311
NM_020366.3(RPGRIP1):c.218+13C>G rs200225522
NM_020366.3(RPGRIP1):c.2215+7G>A rs7157052
NM_020366.3(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974
NM_020366.3(RPGRIP1):c.287C>A (p.Pro96Gln) rs1040904
NM_020366.3(RPGRIP1):c.3339+5G>A rs1057518122
NM_020366.3(RPGRIP1):c.3340-15C>T rs28664100
NM_020366.3(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671
NM_020366.3(RPGRIP1):c.3546C>T (p.Asp1182=) rs34116882
NM_020366.3(RPGRIP1):c.3719G>A (p.Gly1240Glu) rs34725281
NM_020366.3(RPGRIP1):c.450C>G (p.Leu150=) rs144585562
NM_020366.3(RPGRIP1):c.525A>G (p.Pro175=) rs17792599
NM_020366.3(RPGRIP1):c.542C>G (p.Ala181Gly) rs186266220
NM_022787.3(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
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.21G>T (p.Trp7Cys) rs62635288
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
NM_181714.3(LCA5):c.1967G>A (p.Gly656Asp) rs1875845
NM_181714.3(LCA5):c.77A>C (p.Asp26Ala) rs34068461
NM_201253.2(CRB1):c.*28T>C rs41302107
NM_201253.2(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
NM_201253.2(CRB1):c.1533C>T (p.Ala511=) rs142224492
NM_201253.2(CRB1):c.2103C>G (p.Pro701=) rs144436610
NM_201253.2(CRB1):c.2306G>A (p.Arg769His) rs62636287
NM_201253.2(CRB1):c.2307C>T (p.Arg769=) rs151104285
NM_201253.2(CRB1):c.2677-8C>T rs73071678
NM_201253.2(CRB1):c.2714G>A (p.Arg905Gln) rs114052315
NM_201253.2(CRB1):c.3992G>A (p.Arg1331His) rs62636285
NM_201253.2(CRB1):c.484G>A (p.Val162Met) rs137853138
NM_201253.2(CRB1):c.600A>G (p.Thr200=) rs77713666
NM_201253.2(CRB1):c.99G>T (p.Arg33Ser) rs59691602
NM_206933.2(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.2(USH2A):c.4758+3A>G rs117798425

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