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
5136 126 2 60 18 0 42 118

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 0 48 12 0 0
likely pathogenic 49 2 28 2 3
uncertain significance 12 28 0 13 6
likely benign 0 2 13 0 11
benign 0 3 6 11 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
Retinitis pigmentosa 5138 125 2 59 18 0 42 117
Retinitis pigmentosa 65 0 0 0 2 0 0 0 2

All variants with conflicting interpretations #

Total variants: 118
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.5977A>G (p.Thr1993Ala) rs115066356 0.02657
NM_001142800.2(EYS):c.2157C>T (p.Cys719=) rs9453148 0.02573
NM_001142800.2(EYS):c.2739G>A (p.Arg913=) rs77020971 0.02117
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser) rs111784356 0.02010
NM_001142800.2(EYS):c.2733T>C (p.Asn911=) rs75634595 0.01917
NM_001142800.2(EYS):c.777G>A (p.Gln259=) rs78079047 0.01169
NM_001201543.2(FAM161A):c.423-7C>T rs144455077 0.00755
NM_001201543.2(FAM161A):c.906A>G (p.Gln302=) rs76110744 0.00702
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) rs111991705 0.00667
NM_001201543.2(FAM161A):c.1013G>A (p.Arg338Gln) rs149314387 0.00644
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His) rs62295357 0.00465
NM_006269.2(RP1):c.616-6T>C rs186571865 0.00458
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583 0.00372
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193 0.00333
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile) rs143898031 0.00328
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_001142800.2(EYS):c.-337T>A rs145321084 0.00201
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443 0.00192
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493 0.00166
NM_201548.5(CERKL):c.820+9G>A rs189638090 0.00163
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg) rs144498273 0.00088
NM_001142800.2(EYS):c.2562C>T (p.Asp854=) rs188011013 0.00081
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902 0.00071
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg) rs374409854 0.00036
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811 0.00035
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_000327.4(ROM1):c.339dup (p.Leu114fs) rs71458427 0.00033
NM_001142800.2(EYS):c.5577C>T (p.Pro1859=) rs747911999 0.00029
NM_001142800.2(EYS):c.9237A>G (p.Leu3079=) rs139944387 0.00026
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_201548.5(CERKL):c.900T>C (p.His300=) rs183252158 0.00020
NM_000883.4(IMPDH1):c.71G>C (p.Arg24Pro) rs946898300 0.00018
NM_005530.3(IDH3A):c.938T>C (p.Met313Thr) rs149862950 0.00018
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr) rs183589498 0.00013
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_001201543.2(FAM161A):c.1959G>T (p.Glu653Asp) rs201052209 0.00010
NM_001297.5(CNGB1):c.413-1G>A rs189234741 0.00010
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_001142800.2(EYS):c.1107C>T (p.Ser369=) rs755023434 0.00008
NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs) rs748531024 0.00008
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter) rs118031911 0.00008
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249 0.00006
NM_001379270.1(CNGA1):c.503T>G (p.Ile168Ser) rs373448145 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 0.00005
NM_001379270.1(CNGA1):c.827G>A (p.Arg276His) rs375412499 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_201548.5(CERKL):c.950G>A (p.Arg317His) rs150587104 0.00004
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_000326.5(RLBP1):c.677T>A (p.Met226Lys) rs137853291 0.00003
NM_001142800.2(EYS):c.3243+1G>A rs1300490966 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) rs779983752 0.00003
NM_001379270.1(CNGA1):c.1044C>A (p.Ser348Arg) rs759079269 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276 0.00003
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu) rs74419361 0.00002
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp) rs748838955 0.00002
NM_005530.3(IDH3A):c.911C>A (p.Pro304His) rs756712426 0.00002
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile) rs780521818 0.00001
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) rs61755806 0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596 0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180 0.00001
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu) rs559078881 0.00001
NM_001242957.3(MAK):c.1698C>A (p.Tyr566Ter) rs186643840 0.00001
NM_001242957.3(MAK):c.814C>T (p.Arg272Ter) rs753314164 0.00001
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His) rs760373259 0.00001
NM_001297.5(CNGB1):c.2603G>A (p.Gly868Asp) rs770961534 0.00001
NM_001354768.3(NRL):c.713G>T (p.Ter238Leu) rs754136527 0.00001
NM_006269.2(RP1):c.788-2A>T rs1422250479 0.00001
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser) rs527236084 0.00001
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170 0.00001
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu) rs547581739 0.00001
NM_000283.4(PDE6B):c.1576G>A (p.Glu526Lys) rs527236091
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.568G>T (p.Asp190Tyr) rs104893779
NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala) rs1554286384
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.334G>A (p.Val112Ile) rs112609906
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.749-1G>C rs368159852
NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met) rs121434241
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs) rs527236116
NM_006445.4(PRPF8):c.5803C>T (p.Arg1935Cys) rs1911322255
NM_006445.4(PRPF8):c.6334AAG[1] (p.Lys2113del) rs1911196248
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) rs752997229
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter) rs2146449862
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806

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