ClinVar Miner

Variants with conflicting interpretations studied for Retinitis Pigmentosa, Recessive

Coded as:
Minimum review status of the submission for Retinitis Pigmentosa, Recessive: Collection method of the submission for Retinitis Pigmentosa, Recessive:
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
191 104 4 78 90 3 8 160

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, Recessive pathogenic likely pathogenic uncertain significance likely benign benign established risk allele risk factor
uncertain significance 4 3 0 50 26 0 0
likely benign 2 0 22 4 77 1 2
benign 0 0 0 1 0 0 0

Condition to condition summary #

Total conditions: 7
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
not provided 0 61 4 75 81 0 8 156
not specified 0 19 0 44 12 0 0 56
ABCA4-Related Disorders 0 73 0 5 12 0 0 17
ABCA4-related condition 0 2 0 2 4 1 0 7
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 0 0 0 0 0 2 0 2
AIPL1-related condition 0 0 0 1 0 0 0 1
BEST1-related condition 0 2 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 160
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014336.5(AIPL1):c.300A>G (p.Leu100=) rs8075035 0.60839
NM_014336.5(AIPL1):c.277-10A>C rs12453262 0.52383
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_001142800.2(EYS):c.2024-14_2024-13insT rs142590049 0.21040
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359 0.13311
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_152443.3(RDH12):c.482G>A (p.Arg161Gln) rs17852293 0.12044
NM_014336.4(AIPL1):c.-106C>A rs7211442 0.10081
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831 0.09402
NM_000350.3(ABCA4):c.*372A>G rs3747961 0.07805
NM_022367.4(SEMA4A):c.*37T>C rs41265023 0.05725
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04939
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141 0.03191
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03176
NM_004183.4(BEST1):c.*133T>C rs1801621 0.03051
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072 0.02574
NM_014249.4(NR2E3):c.488T>C (p.Met163Thr) rs1805021 0.02481
NM_014249.4(NR2E3):c.419A>G (p.Glu140Gly) rs1805020 0.02391
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129 0.02065
NM_001242957.3(MAK):c.1558C>T (p.Pro520Ser) rs567083 0.02022
NM_014336.5(AIPL1):c.111C>T (p.Phe37=) rs11650007 0.02008
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375 0.01781
NM_022367.4(SEMA4A):c.2187G>A (p.Pro729=) rs41265019 0.01581
NM_000350.3(ABCA4):c.*134G>A rs76201551 0.01542
NM_000350.3(ABCA4):c.2964C>T (p.Leu988=) rs61754034 0.01415
NM_014249.4(NR2E3):c.505C>T (p.Leu169=) rs1805022 0.01351
NM_002032.3(FTH1):c.*389A>G rs1801327 0.01102
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555 0.01028
NM_000350.3(ABCA4):c.3051-14T>A rs17110922 0.01008
NM_000326.5(RLBP1):c.346+3_346+8del rs56307321 0.00878
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) rs111326315 0.00867
NM_000350.3(ABCA4):c.3831G>A (p.Thr1277=) rs75092434 0.00783
NM_001297.5(CNGB1):c.1643+13del rs3217335 0.00748
NM_014336.5(AIPL1):c.277-14G>A rs117749485 0.00585
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417 0.00491
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr) rs79544660 0.00488
NM_014336.5(AIPL1):c.97-9G>A rs140124986 0.00457
NM_003322.6(TULP1):c.1341G>A (p.Leu447=) rs61734562 0.00456
NM_000350.3(ABCA4):c.*136G>A rs55665437 0.00448
NM_000350.3(ABCA4):c.4925G>T (p.Ser1642Ile) rs114518437 0.00425
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020 0.00366
NM_014249.4(NR2E3):c.349+8G>A rs112520386 0.00344
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174 0.00246
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943 0.00239
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017 0.00220
NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939 0.00185
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=) rs61748519 0.00185
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=) rs147884766 0.00183
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) rs61752395 0.00176
NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) rs2075164 0.00170
NM_000350.3(ABCA4):c.4253+13G>A rs145766145 0.00168
NM_000350.3(ABCA4):c.-92C>T rs200102393 0.00161
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549 0.00160
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440 0.00133
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_014336.5(AIPL1):c.-17C>A rs188246267 0.00132
NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=) rs141004967 0.00112
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919 0.00100
NM_014249.4(NR2E3):c.900G>A (p.Thr300=) rs184906734 0.00083
NM_000283.4(PDE6B):c.1401+7_1401+8insA rs537010934 0.00074
NM_014336.5(AIPL1):c.780C>T (p.His260=) rs145304845 0.00072
NM_001242957.3(MAK):c.975G>A (p.Pro325=) rs145014649 0.00067
NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys) rs75267647 0.00066
NM_014249.4(NR2E3):c.455C>T (p.Pro152Leu) rs371853056 0.00053
NM_000350.3(ABCA4):c.*299G>C rs538804441 0.00048
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys) rs147192139 0.00047
NM_022367.4(SEMA4A):c.1215G>T (p.Thr405=) rs151260330 0.00047
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=) rs61754033 0.00041
NM_022367.4(SEMA4A):c.405T>C (p.Asn135=) rs56271605 0.00040
NM_004183.4(BEST1):c.1070C>T (p.Ala357Val) rs17854138 0.00039
NM_000350.3(ABCA4):c.1240-8G>C rs185225547 0.00038
NM_022367.4(SEMA4A):c.84G>A (p.Thr28=) rs149711133 0.00038
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171 0.00037
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=) rs143263315 0.00037
NM_001242957.3(MAK):c.1405G>A (p.Glu469Lys) rs149006687 0.00035
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys) rs199933282 0.00032
NM_000350.3(ABCA4):c.2744-5C>T rs76305791 0.00028
NM_022367.4(SEMA4A):c.1086A>C (p.Ser362=) rs145993678 0.00024
NM_000350.3(ABCA4):c.1155C>T (p.Ile385=) rs376624031 0.00022
NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=) rs138831474 0.00021
NM_006343.3(MERTK):c.2079+10del rs529766238 0.00021
NM_002032.3(FTH1):c.387+12A>G rs201120647 0.00019
NM_000350.3(ABCA4):c.3607+13C>T rs374630957 0.00017
NM_001142800.2(EYS):c.5883T>G (p.Thr1961=) rs779530881 0.00016
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=) rs201602424 0.00014
NM_022367.4(SEMA4A):c.90C>T (p.Thr30=) rs373565051 0.00014
NM_000350.3(ABCA4):c.741C>T (p.Asn247=) rs372976742 0.00013
NM_016247.4(IMPG2):c.335-16_335-15del rs756480190 0.00013
NM_022367.4(SEMA4A):c.1694-13C>G rs144540956 0.00013
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys) rs138157885 0.00011
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701 0.00010
NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met) rs202127235 0.00009
NM_001242957.3(MAK):c.405T>G (p.Gly135=) rs373994062 0.00009
NM_000350.3(ABCA4):c.2517C>T (p.Ser839=) rs138246242 0.00007
NM_000326.5(RLBP1):c.875C>T (p.Thr292Met) rs201588178 0.00006
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=) rs180921875 0.00006
NM_000350.3(ABCA4):c.5197-4C>T rs758825834 0.00006
NM_014249.4(NR2E3):c.119-8C>T rs373874970 0.00006
NM_000350.3(ABCA4):c.4848+13T>C rs374196141 0.00005
NM_004183.4(BEST1):c.1064G>A (p.Arg355His) rs368356148 0.00005
NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=) rs202199507 0.00004
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=) rs191506332 0.00004
NM_001242957.3(MAK):c.1128C>T (p.Val376=) rs768120333 0.00004
NM_001242957.3(MAK):c.867A>G (p.Val289=) rs147570352 0.00004
NM_014249.4(NR2E3):c.444T>C (p.Ala148=) rs533192044 0.00004
NM_002900.3(RBP3):c.717C>T (p.Ala239=) rs146269396 0.00003
NM_014249.4(NR2E3):c.245+9G>A rs538864090 0.00003
NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=) rs886046565 0.00002
NM_000350.3(ABCA4):c.4194C>T (p.Gly1398=) rs763857670 0.00002
NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr) rs142673376 0.00002
NM_001297.5(CNGB1):c.1482T>C (p.Ser494=) rs769840807 0.00002
NM_014249.4(NR2E3):c.264G>T (p.Gly88=) rs558123422 0.00002
NM_014249.4(NR2E3):c.572-13C>T rs376114936 0.00002
NM_206933.4(USH2A):c.1789C>A (p.His597Asn) rs201127450 0.00002
NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg) rs775661924 0.00001
NM_000350.3(ABCA4):c.4573C>T (p.Leu1525=) rs774957381 0.00001
NM_001242957.3(MAK):c.968C>G (p.Pro323Arg) rs200641218 0.00001
NM_022367.4(SEMA4A):c.2106C>T (p.Leu702=) rs772147085 0.00001
NM_022367.4(SEMA4A):c.492C>T (p.Ile164=) rs562037528 0.00001
NM_000283.4(PDE6B):c.*153dup rs374413250
NM_000350.3(ABCA4):c.1356+14dup rs886046567
NM_000350.3(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.3(ABCA4):c.1356+6_1356+7insC rs886046568
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.3(ABCA4):c.3840_3845del (p.1279DS[1]) rs62642572
NM_000350.3(ABCA4):c.4203C>A (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.4532C>T (p.Pro1511Leu) rs886046564
NM_000350.3(ABCA4):c.468C>T (p.Ile156=) rs148091207
NM_000350.3(ABCA4):c.6416G>C (p.Arg2139Pro) rs761867791
NM_000350.3(ABCA4):c.791G>A (p.Arg264His) rs567985213
NM_000440.3(PDE6A):c.*241dup rs36043437
NM_001029883.3(PCARE):c.3673_3675dupAGC
NM_001142800.2(EYS):c.1460-5dup rs771064426
NM_001142800.2(EYS):c.2023+15del rs35045551
NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del) rs536788112
NM_001242957.3(MAK):c.1184G>T (p.Arg395Leu) rs62000445
NM_001242957.3(MAK):c.1815T>C (p.Thr605=) rs570463236
NM_001242957.3(MAK):c.843C>T (p.His281=) rs55950618
NM_001297.5(CNGB1):c.1089GGA[6] (p.Glu371dup) rs141566950
NM_006017.3(PROM1):c.2374-14dup rs370477050
NM_006017.3(PROM1):c.2374-5dup rs34269395
NM_014336.5(AIPL1):c.*151_*152del rs77115868
NM_014336.5(AIPL1):c.*151_*152dup rs77115868
NM_016247.4(IMPG2):c.534-13dup rs567795716
NM_022367.4(SEMA4A):c.810+7G>A rs568949451
NM_201548.5(CERKL):c.239-4dup rs201864646
NM_206933.4(USH2A):c.3317-14del rs376363548
NM_206933.4(USH2A):c.4252-36CTTT[5] rs372388546
NM_206933.4(USH2A):c.4252-36CTTT[7] rs372388546

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