ClinVar Miner

Variants with conflicting interpretations studied for Retinitis pigmentosa 25

Coded as:
Minimum review status of the submission for Retinitis pigmentosa 25: Collection method of the submission for Retinitis pigmentosa 25:
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
1025 188 0 98 9 0 20 121

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
Retinitis pigmentosa 25 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 89 7 0 0
likely pathogenic 89 0 19 0 0
uncertain significance 7 19 0 7 2
likely benign 0 0 7 0 9
benign 0 0 2 9 0

Condition to condition summary #

Total conditions: 1
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
Retinitis pigmentosa 25 1025 188 0 98 9 0 20 121

All variants with conflicting interpretations #

Total variants: 121
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601 0.50550
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610 0.12981
NM_001142800.2(EYS):c.-459C>T rs144371265 0.01208
NM_001142800.2(EYS):c.5044G>T (p.Asp1682Tyr) rs75831552 0.01062
NM_001142800.2(EYS):c.4093A>G (p.Lys1365Glu) rs16895519 0.00905
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn) rs61753611 0.00688
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=) rs182322608 0.00464
NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile) rs144513453 0.00410
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00350
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile) rs112464110 0.00293
NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp) rs139822086 0.00273
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493 0.00166
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu) rs145623359 0.00140
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340 0.00124
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00068
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166 0.00062
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703 0.00043
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_001142800.2(EYS):c.4121G>A (p.Arg1374Gln) rs142187896 0.00034
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_001142800.2(EYS):c.2953_2961del (p.Thr985_Gly987del) rs756068592 0.00008
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter) rs760798455 0.00006
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249 0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190 0.00006
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) rs778030177 0.00005
NM_001142800.2(EYS):c.6571+5G>A rs991580368 0.00005
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter) rs184722374 0.00005
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter) rs752683070 0.00005
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu) rs527236068 0.00004
NM_001142800.2(EYS):c.7492G>C (p.Ala2498Pro) rs1311193836 0.00004
NM_001142800.2(EYS):c.7228+1G>A rs758899480 0.00003
NM_001142800.2(EYS):c.7394C>G (p.Thr2465Ser) rs145184183 0.00003
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys) rs1015857165 0.00003
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs) rs763028732 0.00003
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu) rs1161453292 0.00003
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr) rs888739369 0.00003
NM_001142800.2(EYS):c.91G>A (p.Glu31Lys) rs572189652 0.00003
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs) rs1326370032 0.00003
NM_001142800.2(EYS):c.-448+5G>A rs1175129177 0.00002
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu) rs74419361 0.00002
NM_001142800.2(EYS):c.32dup (p.Met12fs) rs779372264 0.00002
NM_001142800.2(EYS):c.78_79dup (p.Gln27fs) rs1352380841 0.00002
NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu) rs919157306 0.00002
NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter) rs933169926 0.00002
NM_001142800.2(EYS):c.1185-6T>G rs565046666 0.00001
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) rs1471994744 0.00001
NM_001142800.2(EYS):c.174G>A (p.Trp58Ter) rs1177052380 0.00001
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180 0.00001
NM_001142800.2(EYS):c.4103dup (p.Ser1369fs) rs1205803331 0.00001
NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter) rs1305702728 0.00001
NM_001142800.2(EYS):c.4955C>G (p.Ser1652Ter) rs909730457 0.00001
NM_001142800.2(EYS):c.5644+5G>A rs794727412 0.00001
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro) rs1278246029 0.00001
NM_001142800.2(EYS):c.6079-3_6079-2del rs1491200209 0.00001
NM_001142800.2(EYS):c.6191+1G>A rs1048032321 0.00001
NM_001142800.2(EYS):c.6192-1G>T rs570020451 0.00001
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089 0.00001
NM_001142800.2(EYS):c.6563T>C (p.Ile2188Thr) rs1562190751 0.00001
NM_001142800.2(EYS):c.6571+1G>A rs1193854376 0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783 0.00001
NM_001142800.2(EYS):c.7578+1G>A rs1228475082 0.00001
NM_001142800.2(EYS):c.8143C>T (p.Arg2715Ter) rs1299355731 0.00001
NM_001142800.2(EYS):c.8236G>T (p.Asp2746Tyr) rs1349879153 0.00001
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) rs373203896 0.00001
NM_001142800.2(EYS):c.8984T>A (p.Ile2995Asn) rs1211856182 0.00001
NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr) rs948998853 0.00001
NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro) rs569561277 0.00001
NM_001142800.1(EYS):c.1057del
NM_001142800.2(EYS):c.103C>T (p.Gln35Ter) rs749410700
NM_001142800.2(EYS):c.1056+3A>C rs747923761
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142800.2(EYS):c.1328dup (p.Asn443fs) rs1582176424
NM_001142800.2(EYS):c.1442G>A (p.Trp481Ter) rs2533202515
NM_001142800.2(EYS):c.1479C>A (p.Cys493Ter) rs774464019
NM_001142800.2(EYS):c.1637_1640del (p.Asp546fs) rs2150313758
NM_001142800.2(EYS):c.1650T>G (p.Tyr550Ter) rs1769936722
NM_001142800.2(EYS):c.1961dup (p.Asn654fs) rs749103801
NM_001142800.2(EYS):c.2023+5G>T rs1287889008
NM_001142800.2(EYS):c.2486del (p.Ile829fs) rs2150076869
NM_001142800.2(EYS):c.2641+1G>A rs1768029728
NM_001142800.2(EYS):c.2992+1G>A rs2533321017
NM_001142800.2(EYS):c.3178_3179del (p.Leu1059_Ile1060insTer) rs1764904701
NM_001142800.2(EYS):c.3490G>T (p.Glu1164Ter) rs2149856835
NM_001142800.2(EYS):c.3573G>A (p.Trp1191Ter) rs1239806410
NM_001142800.2(EYS):c.4011_4012del (p.His1337fs) rs2149832523
NM_001142800.2(EYS):c.4321C>T (p.Gln1441Ter) rs1766410692
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs) rs750840208
NM_001142800.2(EYS):c.4557del (p.Ala1520fs) rs768092887
NM_001142800.2(EYS):c.525_527del (p.Glu176del) rs780433094
NM_001142800.2(EYS):c.5487dup (p.Glu1830fs) rs2533149036
NM_001142800.2(EYS):c.5802dup (p.Ile1935fs) rs1455826633
NM_001142800.2(EYS):c.5868del (p.Phe1956fs)
NM_001142800.2(EYS):c.5958_5961del (p.Thr1987fs) rs1561965266
NM_001142800.2(EYS):c.6079-24TC[8] rs35395170
NM_001142800.2(EYS):c.6192-1G>A rs570020451
NM_001142800.2(EYS):c.6812_6813del (p.Thr2271fs) rs2149802267
NM_001142800.2(EYS):c.7228_7228+1delinsTA rs1772614934
NM_001142800.2(EYS):c.7328A>C (p.Glu2443Ala) rs2533574075
NM_001142800.2(EYS):c.7331T>A (p.Phe2444Tyr) rs2533574070
NM_001142800.2(EYS):c.7572G>A (p.Trp2524Ter) rs902462590
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter) rs527236076
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.8150dup (p.Thr2718fs) rs1251637752
NM_001142800.2(EYS):c.8155_8156del (p.His2719fs) rs764229134
NM_001142800.2(EYS):c.8168del (p.Gln2723fs) rs1168101857
NM_001142800.2(EYS):c.8243dup (p.Leu2748fs) rs1240944758
NM_001142800.2(EYS):c.8309T>C (p.Leu2770Pro) rs1186771860
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001142800.2(EYS):c.8750T>A (p.Leu2917Ter) rs764362221
NM_001142800.2(EYS):c.8830del (p.Val2944fs) rs776526721
NM_001142800.2(EYS):c.9166_9167delinsCCTCCC (p.Ile3056fs) rs2533386765
NM_001142800.2(EYS):c.9177_9180del (p.Ala3058_Tyr3059insTer) rs1162806402
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs) rs886044149
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs) rs769824975
NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del) rs536788112
NM_001142800.2(EYS):c.9354dup (p.Gln3119fs) rs771640639
NM_001142800.2(EYS):c.9376_9379del (p.Ile3127fs) rs1166245419
NM_001142800.2(EYS):c.984del (p.Asn328fs) rs1766679809

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