ClinVar Miner

Variants with conflicting interpretations studied for Retinitis pigmentosa

Coded as:
Minimum review status of the submission for Retinitis pigmentosa: Collection method of the submission for Retinitis pigmentosa:
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 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
4773 117 4 46 19 0 51 115

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 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 2 30 12 0 0
likely pathogenic 31 2 35 2 3
uncertain significance 11 21 0 14 6
likely benign 0 2 13 0 12
benign 0 3 6 11 0

Condition to condition summary #

Total conditions: 3
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 4822 96 4 38 18 0 32 87
Usher syndrome, type 2A; Retinitis pigmentosa 39 0 24 0 7 0 0 20 27
Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 0 0 0 1 1 0 0 2

All variants with conflicting interpretations #

Total variants: 115
Download table as spreadsheet
HGVS dbSNP
NM_000087.4(CNGA1):c.1056C>A (p.Ser352Arg) rs759079269
NM_000087.4(CNGA1):c.515T>G (p.Ile172Ser) rs373448145
NM_000087.4(CNGA1):c.839G>A (p.Arg280His) rs375412499
NM_000283.3(PDE6B):c.1576G>A (p.Glu526Lys) rs527236091
NM_000283.3(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981
NM_000283.3(PDE6B):c.299G>A (p.Arg100His) rs555600300
NM_000283.3(PDE6B):c.655T>C (p.Tyr219His) rs62295357
NM_000283.3(PDE6B):c.739T>A (p.Phe247Ile) rs780521818
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) rs61755806
NM_000327.3(ROM1):c.339dup (p.Leu114fs) rs71458427
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg) rs144498273
NM_000883.4(IMPDH1):c.71G>C (p.Arg24Pro) rs0
NM_001142800.2(EYS):c.-337T>A rs145321084
NM_001142800.2(EYS):c.1107C>T (p.Ser369=) rs755023434
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001142800.2(EYS):c.2157C>T (p.Cys719=) rs9453148
NM_001142800.2(EYS):c.2562C>T (p.Asp854=) rs188011013
NM_001142800.2(EYS):c.2733T>C (p.Asn911=) rs75634595
NM_001142800.2(EYS):c.2739G>A (p.Arg913=) rs77020971
NM_001142800.2(EYS):c.334G>A (p.Val112Ile) rs112609906
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg) rs374409854
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193
NM_001142800.2(EYS):c.5577C>T (p.Pro1859=) rs747911999
NM_001142800.2(EYS):c.5977A>G (p.Thr1993Ala) rs115066356
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu) rs559078881
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889
NM_001142800.2(EYS):c.732T>A (p.Cys244Ter) rs1562220891
NM_001142800.2(EYS):c.749-1G>C rs0
NM_001142800.2(EYS):c.777G>A (p.Gln259=) rs78079047
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) rs779983752
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) rs111991705
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr) rs183589498
NM_001142800.2(EYS):c.9237A>G (p.Leu3079=) rs139944387
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256
NM_001145291.1(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_001201543.2(FAM161A):c.1013G>A (p.Arg338Gln) rs149314387
NM_001201543.2(FAM161A):c.1959G>T (p.Glu653Asp) rs201052209
NM_001201543.2(FAM161A):c.423-7C>T rs144455077
NM_001201543.2(FAM161A):c.906A>G (p.Gln302=) rs76110744
NM_001242957.3(MAK):c.814C>T (p.Arg272Ter) rs753314164
NM_001278293.3(ARL6):c.480-8C>T rs77010939
NM_001278293.3(ARL6):c.536-4T>C rs201939836
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His) rs760373259
NM_001297.5(CNGB1):c.2603G>A (p.Gly868Asp) rs770961534
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583
NM_001297.5(CNGB1):c.413-1G>A rs189234741
NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met) rs121434241
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter) rs118031911
NM_006269.2(RP1):c.616-6T>C rs186571865
NM_006269.2(RP1):c.788-2A>T rs1422250479
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser) rs527236084
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile) rs143898031
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser) rs111784356
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749
NM_201548.4(CERKL):c.769C>T rs121909398
NM_201548.5(CERKL):c.820+9G>A rs189638090
NM_201548.5(CERKL):c.900T>C (p.His300=) rs183252158
NM_201548.5(CERKL):c.950G>A (p.Arg317His) rs0
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919
NM_206933.3(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.3(USH2A):c.13898del (p.Pro4632_Leu4633insTer) rs1553252052
NM_206933.3(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.3(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.3(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050
NM_206933.3(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789
NM_206933.3(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.1A>G (p.Met1Val) rs924627806
NM_206933.3(USH2A):c.2167+5G>A rs771583281
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.3176C>T (p.Pro1059Leu) rs547581739
NM_206933.3(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.3(USH2A):c.4174G>T (p.Gly1392Ter) rs1177198729
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.3(USH2A):c.6902T>C (p.Leu2301Ser) rs759494205
NM_206933.3(USH2A):c.9571-2A>G rs751111524
NM_206933.3(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263
Single allele rs0

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