ClinVar Miner

Variants with conflicting interpretations studied for Retinitis Pigmentosa, Dominant

Coded as:
Minimum review status of the submission for Retinitis Pigmentosa, Dominant: Y axis collection method of the submission for Retinitis Pigmentosa, Dominant:
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
377 290 3 92 42 0 6 136

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, Dominant pathogenic likely pathogenic uncertain significance likely benign benign
uncertain significance 2 2 0 24 15
likely benign 2 1 4 3 92

Condition to condition summary #

Total conditions: 20
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 provided 0 28 3 64 41 0 1 107
not specified 0 6 0 48 10 0 1 59
Retinitis pigmentosa 1 0 0 0 5 0 0 1 5
Retinitis pigmentosa 0 2 0 0 1 0 2 3
Patterned dystrophy of retinal pigment epithelium 0 49 0 2 0 0 0 2
Retinitis pigmentosa 27 0 0 0 2 0 0 0 2
Retinitis pigmentosa 9 0 0 0 2 0 0 0 2
Usher syndrome, type 3A 0 0 0 1 0 0 1 2
Hypertriglyceridemia, susceptibility to 0 0 0 1 0 0 0 1
Leber congenital amaurosis 1 0 0 0 1 0 0 0 1
Leber congenital amaurosis 4 0 0 0 0 0 0 1 1
PERCHING syndrome 0 0 0 1 0 0 0 1
Rare genetic deafness 0 0 0 0 0 0 1 1
Retinal dystrophy 0 0 0 0 0 0 1 1
Retinitis pigmentosa 13 0 0 0 1 0 0 0 1
Retinitis pigmentosa 31 0 0 0 1 0 0 0 1
Retinitis pigmentosa 33 0 2 0 1 0 0 0 1
Retinitis pigmentosa 48 0 0 0 1 0 0 0 1
Retinitis pigmentosa 58 0 0 0 0 0 0 1 1
Retinitis pigmentosa 7 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 136
Download table as spreadsheet
HGVS dbSNP
NM_000322.5(PRPH2):c.*13C>T rs361524
NM_000322.5(PRPH2):c.-11A>C rs114062933
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly) rs434102
NM_000322.5(PRPH2):c.318T>C (p.Val106=) rs7764439
NM_000322.5(PRPH2):c.801C>T (p.Val267=) rs189358082
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu) rs390659
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys) rs425876
NM_000327.3(ROM1):c.686G>A (p.Arg229His) rs150168119
NM_000327.3(ROM1):c.812T>C (p.Met271Thr) rs137950927
NM_000327.3(ROM1):c.81G>T (p.Leu27=) rs148196509
NM_000327.3(ROM1):c.868del (p.Gln290fs) rs548233813
NM_000409.4(GUCA1A):c.567C>T (p.Asp189=) rs34925828
NM_000554.6(CRX):c.253-15G>A rs145805694
NM_000554.6(CRX):c.28C>G (p.His10Asp) rs139340178
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445
NM_000554.6(CRX):c.551C>T (p.Pro184Leu) rs147558800
NM_000554.6(CRX):c.597C>T (p.Ser199=) rs61748455
NM_000717.5(CA4):c.204A>G (p.Gly68=) rs35468643
NM_000717.5(CA4):c.258C>T (p.Asn86=) rs185476073
NM_000717.5(CA4):c.415A>T (p.Met139Leu) rs185658468
NM_000717.5(CA4):c.700G>A (p.Val234Ile) rs117704637
NM_000717.5(CA4):c.807T>C (p.Asn269=) rs142961963
NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) rs72624961
NM_000883.4(IMPDH1):c.1338C>T (p.Ile446=) rs199623010
NM_000883.4(IMPDH1):c.1405+9A>G rs11562030
NM_001031710.3(KLHL7):c.1440A>G (p.Lys480=) rs118185564
NM_001031710.3(KLHL7):c.1578T>C (p.Val526=) rs113256550
NM_001031710.3(KLHL7):c.352C>T (p.Leu118=) rs15775
NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) rs111033258
NM_001195794.1(CLRN1):c.57A>T (p.Ala19=) rs3796242
NM_001195794.1(CLRN1):c.699C>T (p.Asp233=) rs148752352
NM_001195794.1(CLRN1):c.6A>C (p.Pro2=) rs111033422
NM_002098.6(GUCA1B):c.253G>A (p.Val85Met) rs137853903
NM_002098.6(GUCA1B):c.465G>T (p.Glu155Asp) rs139923590
NM_002098.6(GUCA1B):c.87G>A (p.Val29=) rs149820788
NM_004698.4(PRPF3):c.1923G>A (p.Arg641=) rs79516325
NM_004698.4(PRPF3):c.780G>A (p.Glu260=) rs80201355
NM_005802.5(TOPORS):c.1238A>C (p.Gln413Pro) rs61758062
NM_005802.5(TOPORS):c.1560A>G (p.Gln520=) rs61756347
NM_005802.5(TOPORS):c.1722G>A (p.Leu574=) rs12236253
NM_005802.5(TOPORS):c.2160C>T (p.Tyr720=) rs74328058
NM_005802.5(TOPORS):c.2245A>G (p.Asn749Asp) rs17857515
NM_005802.5(TOPORS):c.2314C>T (p.Leu772=) rs371017482
NM_005802.5(TOPORS):c.2319T>C (p.Ser773=) rs10971019
NM_005802.5(TOPORS):c.2435C>G (p.Pro812Arg) rs36034138
NM_005802.5(TOPORS):c.2467A>G (p.Ser823Gly) rs377384599
NM_005802.5(TOPORS):c.2643C>G (p.His881Gln) rs41302222
NM_005802.5(TOPORS):c.2988C>T (p.Leu996=) rs3814518
NM_005802.5(TOPORS):c.2991T>C (p.Asp997=) rs12348918
NM_005802.5(TOPORS):c.576G>T (p.Val192=) rs116721635
NM_005802.5(TOPORS):c.58C>T (p.Pro20Ser) rs112527210
NM_005802.5(TOPORS):c.74C>G (p.Ser25Trp) rs61758066
NM_006177.5(NRL):c.441G>A (p.Arg147=) rs201197984
NM_006177.5(NRL):c.711C>G (p.Leu237=) rs8009051
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126
NM_006269.2(RP1):c.2255C>T (p.Thr752Met) rs28399531
NM_006269.2(RP1):c.2615G>A (p.Arg872His) rs444772
NM_006269.2(RP1):c.2833G>T (p.Val945Leu) rs16920621
NM_006269.2(RP1):c.2894G>T (p.Ser965Ile) rs201110322
NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr) rs2293869
NM_006269.2(RP1):c.2991T>C (p.Asn997=) rs112667487
NM_006269.2(RP1):c.3036G>C (p.Leu1012=) rs373971446
NM_006269.2(RP1):c.3699C>T (p.Ser1233=) rs114557304
NM_006269.2(RP1):c.4563C>T (p.Asn1521=) rs150524359
NM_006269.2(RP1):c.4784G>A (p.Arg1595Gln) rs35084330
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) rs446227
NM_006269.2(RP1):c.5071T>C (p.Ser1691Pro) rs414352
NM_006269.2(RP1):c.515T>G (p.Leu172Arg) rs180729424
NM_006269.2(RP1):c.5175A>G (p.Gln1725=) rs441800
NM_006269.2(RP1):c.5624G>C (p.Gly1875Ala) rs150728667
NM_006269.2(RP1):c.5701C>T (p.Leu1901Phe) rs113793810
NM_006269.2(RP1):c.6064A>C (p.Lys2022Gln) rs184596875
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr) rs61739567
NM_006269.2(RP1):c.616-6T>C rs186571865
NM_006445.4(PRPF8):c.101-3C>T rs75670228
NM_006445.4(PRPF8):c.1290-10A>G rs73291009
NM_006445.4(PRPF8):c.2409G>A (p.Ala803=) rs114284408
NM_006445.4(PRPF8):c.2493C>G (p.Ser831=) rs146749363
NM_006445.4(PRPF8):c.2631G>A (p.Ala877=) rs35420265
NM_006445.4(PRPF8):c.2680-9G>A rs886052614
NM_006445.4(PRPF8):c.435-6T>G rs75026252
NM_006445.4(PRPF8):c.4467C>T (p.Leu1489=) rs113849788
NM_006445.4(PRPF8):c.4707G>A (p.Leu1569=) rs143237388
NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=) rs141456140
NM_006445.4(PRPF8):c.5412C>T (p.Asn1804=) rs151214963
NM_006445.4(PRPF8):c.5469C>T (p.His1823=) rs115404141
NM_006445.4(PRPF8):c.5506T>C (p.Leu1836=) rs147958141
NM_006445.4(PRPF8):c.6227+8C>T rs369076508
NM_006445.4(PRPF8):c.6247C>T (p.Leu2083=) rs34341522
NM_006445.4(PRPF8):c.6834G>A (p.Ser2278=) rs147050234
NM_006445.4(PRPF8):c.6854-4G>A rs75996323
NM_012469.4(PRPF6):c.120A>G (p.Ala40=) rs34062309
NM_012469.4(PRPF6):c.1524+10A>G rs201704766
NM_012469.4(PRPF6):c.1944C>T (p.Ala648=) rs151332876
NM_012469.4(PRPF6):c.2328C>T (p.Asn776=) rs61736634
NM_012469.4(PRPF6):c.2460C>T (p.Leu820=) rs61736635
NM_012469.4(PRPF6):c.42C>T (p.Pro14=) rs186249212
NM_014014.5(SNRNP200):c.1159A>G (p.Met387Val) rs142729495
NM_014014.5(SNRNP200):c.1854T>C (p.His618=) rs147622706
NM_014014.5(SNRNP200):c.2422-8C>T rs79583389
NM_014014.5(SNRNP200):c.2800A>G (p.Thr934Ala) rs149616320
NM_014014.5(SNRNP200):c.2928G>A (p.Thr976=) rs375734152
NM_014014.5(SNRNP200):c.3654C>T (p.Ser1218=) rs3214060
NM_014014.5(SNRNP200):c.4080A>T (p.Ala1360=) rs547112938
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile) rs143898031
NM_014014.5(SNRNP200):c.46-7T>C rs373701482
NM_014014.5(SNRNP200):c.5134-6C>G rs3214062
NM_014014.5(SNRNP200):c.5386C>T (p.Leu1796=) rs34435094
NM_014014.5(SNRNP200):c.5409C>T (p.Ser1803=) rs139137932
NM_014014.5(SNRNP200):c.5418C>T (p.Asp1806=) rs72937669
NM_014014.5(SNRNP200):c.574+9G>A rs145559167
NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=) rs147427344
NM_014014.5(SNRNP200):c.5933G>C (p.Gly1978Ala) rs75956769
NM_014014.5(SNRNP200):c.5943T>C (p.Ser1981=) rs754294342
NM_014014.5(SNRNP200):c.723G>A (p.Ser241=) rs2276647
NM_014014.5(SNRNP200):c.732C>T (p.Leu244=) rs199688602
NM_014336.5(AIPL1):c.-17C>A rs188246267
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580
NM_014336.5(AIPL1):c.277-10A>C rs12453262
NM_014336.5(AIPL1):c.300A>G (p.Leu100=) rs8075035
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017
NM_014336.5(AIPL1):c.651A>G (p.Pro217=) rs2292546
NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser) rs138585919
NM_014336.5(AIPL1):c.765T>C (p.Asp255=) rs62637018
NM_014336.5(AIPL1):c.780C>T (p.His260=) rs145304845
NM_014336.5(AIPL1):c.97-9G>A rs140124986
NM_144631.6(ZNF513):c.1015T>C (p.Cys339Arg) rs267607182
NM_144631.6(ZNF513):c.1260C>T (p.Leu420=) rs112828880
NM_203288.2(RP9):c.156C>T (p.Tyr52=) rs115938195
NM_203288.2(RP9):c.34G>A (p.Ala12Thr) rs775870239
NM_203288.2(RP9):c.629A>G (p.Lys210Arg) rs150987618
NM_203288.2(RP9):c.664del (p.Ter222AspextTer?) rs553265417

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