ClinVar Miner

Variants with conflicting interpretations studied for Retinitis Pigmentosa, Recessive

Coded as:
Minimum review status of the submission for Retinitis Pigmentosa, Recessive: Y axis 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 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
719 645 4 192 206 3 23 393

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 risk factor other
uncertain significance 1 7 0 100 98 0 0
likely benign 9 12 31 4 189 2 1
benign 0 0 0 3 0 0 0

Condition to condition summary #

Total conditions: 39
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 0 121 4 95 172 0 4 263
not specified 0 54 0 135 61 0 0 194
Stargardt disease 1 0 2 0 1 6 1 11 17
Retinitis pigmentosa 25 0 5 0 7 6 0 0 13
Retinitis pigmentosa 45 0 5 0 4 3 0 0 7
Retinitis pigmentosa 0 1 0 1 2 0 3 6
Retinitis pigmentosa 26 0 0 0 2 3 0 0 5
Stargardt disease 0 1 0 0 0 0 5 5
ABCA4-Related Disorders 0 3 0 0 1 0 2 3
Leber congenital amaurosis 1 0 2 0 2 1 0 0 3
Bestrophinopathy, autosomal recessive 0 0 0 0 0 0 2 2
Cone/cone-rod dystrophy 0 0 0 0 0 0 2 2
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 0 0 0 0 0 2 0 2
Retinitis pigmentosa 38 0 0 0 1 1 0 0 2
Stargardt Disease, Recessive 0 100 0 0 0 0 2 2
Vitelliform macular dystrophy type 2 0 45 0 1 0 0 1 2
BEST1-Related Disorders 0 0 0 0 0 0 1 1
Cone-rod dystrophy 0 0 0 0 0 0 1 1
Cone-rod dystrophy 16 0 0 0 0 1 0 0 1
Cone-rod dystrophy 3 0 1 0 0 0 0 1 1
Leber congenital amaurosis 13 0 0 0 1 0 0 0 1
Leber congenital amaurosis 2; Retinitis pigmentosa 20 0 0 0 0 1 0 0 1
Leber congenital amaurosis 4 0 0 0 0 0 0 1 1
Leber congenital amaurosis 8 0 0 0 0 1 0 0 1
Macular degeneration 0 102 0 0 1 0 0 1
Macular dystrophy 0 2 0 0 0 0 1 1
Pigmented paravenous chorioretinal atrophy 0 44 0 0 0 0 1 1
Retinal dystrophy 0 53 0 0 0 0 1 1
Retinitis pigmentosa 28 0 1 0 0 1 0 0 1
Retinitis pigmentosa 35 0 0 0 0 0 0 1 1
Retinitis pigmentosa 40 0 0 0 0 0 0 1 1
Retinitis pigmentosa 43 0 1 0 0 1 0 0 1
Retinitis pigmentosa 44 0 0 0 0 1 0 0 1
Retinitis pigmentosa 49 0 0 0 0 1 0 0 1
Retinitis pigmentosa 54 0 1 0 1 0 0 0 1
Retinitis pigmentosa 62 0 0 0 0 1 0 0 1
Severe Myopia 0 0 0 0 1 0 0 1
Usher syndrome, type 2A 0 0 0 1 0 0 0 1
Vitreoretinochoroidopathy 0 47 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 393
Download table as spreadsheet
HGVS dbSNP
NM_000283.3(PDE6B):c.1060-13G>A rs147482093
NM_000283.3(PDE6B):c.1108-9C>T rs200970775
NM_000283.3(PDE6B):c.1218C>T (p.Asp406=) rs148190219
NM_000283.3(PDE6B):c.132C>G (p.Cys44Trp) rs199974771
NM_000283.3(PDE6B):c.1401+5G>A rs201623488
NM_000283.3(PDE6B):c.1401+7_1401+8insA rs537010934
NM_000283.3(PDE6B):c.145G>T (p.Asp49Tyr) rs79826315
NM_000283.3(PDE6B):c.1635C>T (p.Phe545=) rs141813304
NM_000283.3(PDE6B):c.2289G>A (p.Lys763=) rs61739716
NM_000283.3(PDE6B):c.2326G>A (p.Asp776Asn) rs141563823
NM_000283.3(PDE6B):c.2331C>T (p.Phe777=) rs35792756
NM_000283.3(PDE6B):c.2344G>A (p.Val782Met) rs145124626
NM_000283.3(PDE6B):c.2505A>G (p.Val835=) rs61734864
NM_000283.3(PDE6B):c.270C>T (p.Asp90=) rs80344633
NM_000283.3(PDE6B):c.482G>A (p.Ser161Asn) rs574098823
NM_000283.3(PDE6B):c.496G>A (p.Glu166Lys) rs115775983
NM_000283.3(PDE6B):c.615C>T (p.Asp205=) rs149293844
NM_000283.3(PDE6B):c.655T>C (p.Tyr219His) rs62295357
NM_000283.3(PDE6B):c.711+10C>T rs201100689
NM_000283.3(PDE6B):c.739T>A (p.Phe247Ile) rs780521818
NM_000283.3(PDE6B):c.794G>A (p.Arg265Gln) rs144562730
NM_000283.3(PDE6B):c.873T>C (p.Ser291=) rs142597807
NM_000283.3(PDE6B):c.905G>A (p.Gly302Asp) rs146646008
NM_000283.3(PDE6B):c.966C>T (p.His322=) rs143711050
NM_000326.5(RLBP1):c.141+6G>A rs181321141
NM_000326.5(RLBP1):c.191G>A (p.Arg64Gln) rs201865787
NM_000326.5(RLBP1):c.29T>A (p.Met10Lys) rs77384282
NM_000326.5(RLBP1):c.303C>T (p.Arg101=) rs144254383
NM_000326.5(RLBP1):c.306A>C (p.Ala102=) rs143817941
NM_000326.5(RLBP1):c.346+3_346+8del rs56307321
NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys) rs142244640
NM_000326.5(RLBP1):c.795+15C>T rs181863443
NM_000326.5(RLBP1):c.796-7C>G rs74029958
NM_000326.5(RLBP1):c.807C>T (p.His269=) rs62640017
NM_000329.3(RPE65):c.1056G>A (p.Glu352=) rs12145904
NM_000329.3(RPE65):c.1194C>T (p.Asp398=) rs139640666
NM_000329.3(RPE65):c.1243+10T>C rs548537552
NM_000329.3(RPE65):c.267C>T (p.Tyr89=) rs372620785
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581
NM_000350.3(ABCA4):c.1155C>T (p.Ile385=) rs376624031
NM_000350.3(ABCA4):c.1240-8G>C rs185225547
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831
NM_000350.3(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) rs61752395
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=) rs201602424
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174
NM_000350.3(ABCA4):c.1805G>A (p.Arg602Gln) rs61749410
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=) rs180921875
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440
NM_000350.3(ABCA4):c.2744-5C>T rs76305791
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.3(ABCA4):c.2964C>T (p.Leu988=) rs61754034
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701
NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys) rs75267647
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=) rs147884766
NM_000350.3(ABCA4):c.3831G>A (p.Thr1277=) rs75092434
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129
NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=) rs141004967
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.4283C>T (p.Thr1428Met) rs1800549
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.3(ABCA4):c.468C>T (p.Ile156=) rs148091207
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.3(ABCA4):c.4925G>T (p.Ser1642Ile) rs114518437
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=) rs191506332
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857
NM_000350.3(ABCA4):c.5836-11G>A rs1800739
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=) rs61748519
NM_000350.3(ABCA4):c.6282+7G>A rs17110761
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652
NM_000350.3(ABCA4):c.71G>A (p.Arg24His) rs62645958
NM_000440.3(PDE6A):c.1476A>C (p.Gln492His) rs17711594
NM_000440.3(PDE6A):c.1614A>G (p.Pro538=) rs139697733
NM_000440.3(PDE6A):c.1791C>T (p.Phe597=) rs61733360
NM_000440.3(PDE6A):c.1936A>G (p.Ile646Val) rs147047715
NM_000440.3(PDE6A):c.1952A>G (p.Asn651Ser) rs149380104
NM_000440.3(PDE6A):c.1954C>T (p.Arg652Cys) rs199748187
NM_000440.3(PDE6A):c.2337T>C (p.Phe779=) rs17110644
NM_000440.3(PDE6A):c.2400C>T (p.Asp800=) rs4705390
NM_000440.3(PDE6A):c.2568C>T (p.Ser856=) rs147000954
NM_000440.3(PDE6A):c.331A>C (p.Arg111=) rs2277925
NM_000440.3(PDE6A):c.465C>T (p.Asn155=) rs2277926
NM_000440.3(PDE6A):c.498G>A (p.Val166=) rs138274547
NM_000440.3(PDE6A):c.594G>A (p.Val198=) rs398123394
NM_000440.3(PDE6A):c.84C>T (p.Tyr28=) rs34230349
NM_000440.3(PDE6A):c.998+11C>T rs75319698
NM_000541.5(SAG):c.201C>T (p.Cys67=) rs72976383
NM_000541.5(SAG):c.226A>G (p.Ile76Val) rs7565275
NM_000541.5(SAG):c.301G>A (p.Ala101Thr) rs141521563
NM_000541.5(SAG):c.375+11C>T rs74356516
NM_000541.5(SAG):c.468C>T (p.Phe156=) rs375593027
NM_000541.5(SAG):c.489C>T (p.Ala163=) rs2304773
NM_001012720.2(RGR):c.19C>T (p.Leu7=) rs11200938
NM_001012720.2(RGR):c.318T>C (p.Ser106=) rs143761967
NM_001012720.2(RGR):c.744+5A>G rs143720091
NM_001029883.3(PCARE):c.102C>T (p.Gly34=) rs149915190
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965
NM_001029883.3(PCARE):c.1582C>T (p.Arg528Cys) rs80151896
NM_001029883.3(PCARE):c.1739C>T (p.Thr580Met) rs10166913
NM_001029883.3(PCARE):c.2112T>C (p.Asn704=) rs10200693
NM_001029883.3(PCARE):c.2374C>G (p.Leu792Val) rs17744093
NM_001029883.3(PCARE):c.2499G>A (p.Pro833=) rs34253433
NM_001029883.3(PCARE):c.2889C>T (p.Ser963=) rs144569618
NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys) rs201355503
NM_001029883.3(PCARE):c.3668+14T>C rs72861052
NM_001029883.3(PCARE):c.3669-2AGC[4] rs139768554
NM_001029883.3(PCARE):c.679G>A (p.Glu227Lys) rs114057537
NM_001029883.3(PCARE):c.867C>T (p.Thr289=) rs199729963
NM_001142564.1(CNGA1):c.1626A>G (p.Thr542=) rs201553765
NM_001142564.1(CNGA1):c.2253G>A (p.Ala751=) rs73145999
NM_001142564.1(CNGA1):c.519A>G (p.Glu173=) rs76061451
NM_001142564.1(CNGA1):c.559G>A (p.Asp187Asn) rs28642966
NM_001142564.1(CNGA1):c.702T>C (p.Tyr234=) rs201341924
NM_001142800.2(EYS):c.-337T>A rs145321084
NM_001142800.2(EYS):c.-459C>T rs144371265
NM_001142800.2(EYS):c.1145A>T (p.Asn382Ile) rs144935927
NM_001142800.2(EYS):c.1146T>C (p.Asn382=) rs974110
NM_001142800.2(EYS):c.1184+14T>C rs182780299
NM_001142800.2(EYS):c.1300-3C>T rs1936439
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601
NM_001142800.2(EYS):c.1899A>G (p.Gln633=) rs373197894
NM_001142800.2(EYS):c.1922A>T (p.Glu641Val) rs17411795
NM_001142800.2(EYS):c.1950G>A (p.Ala650=) rs565864295
NM_001142800.2(EYS):c.2024-14C>T rs45628235
NM_001142800.2(EYS):c.2039T>C (p.Ile680Thr) rs376807770
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.2613C>T (p.Asp871=) rs192059823
NM_001142800.2(EYS):c.2641+8C>A rs886061683
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.281C>A (p.Pro94Gln) rs111947397
NM_001142800.2(EYS):c.2975G>T (p.Cys992Phe) rs566917467
NM_001142800.2(EYS):c.2992+9A>G rs886061680
NM_001142800.2(EYS):c.3345A>G (p.Glu1115=) rs114282214
NM_001142800.2(EYS):c.334G>C (p.Val112Leu) rs112609906
NM_001142800.2(EYS):c.359C>T (p.Thr120Met) rs12193967
NM_001142800.2(EYS):c.3787A>G (p.Ile1263Val) rs17404123
NM_001142800.2(EYS):c.3906C>T (p.His1302=) rs12663916
NM_001142800.2(EYS):c.3936A>G (p.Thr1312=) rs12662610
NM_001142800.2(EYS):c.3973C>G (p.Gln1325Glu) rs12663622
NM_001142800.2(EYS):c.4026C>T (p.Ser1342=) rs12663619
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val) rs17403955
NM_001142800.2(EYS):c.4093A>G (p.Lys1365Glu) rs16895519
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr) rs62415828
NM_001142800.2(EYS):c.4440A>G (p.Arg1480=) rs886061675
NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp) rs62415827
NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly) rs62415826
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340
NM_001142800.2(EYS):c.4593G>A (p.Glu1531=) rs62415825
NM_001142800.2(EYS):c.5140A>C (p.Thr1714Pro) rs201916371
NM_001142800.2(EYS):c.5244A>C (p.Leu1748Phe) rs57312007
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn) rs182151153
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193
NM_001142800.2(EYS):c.5617C>G (p.Leu1873Val) rs16895517
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile) rs9353806
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.6977G>A (p.Arg2326Gln) rs4710457
NM_001142800.2(EYS):c.7666A>T (p.Ser2556Cys) rs66462731
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=) rs191846522
NM_001142800.2(EYS):c.777G>A (p.Gln259=) rs78079047
NM_001142800.2(EYS):c.9030A>G (p.Ala3010=) rs61754905
NM_001142800.2(EYS):c.91G>A (p.Glu31Lys) rs572189652
NM_001142800.2(EYS):c.9237A>G (p.Leu3079=) rs139944387
NM_001142800.2(EYS):c.9342_9344TGT[1] (p.Val3116del) rs536788112
NM_001145847.2(PROM1):c.129C>T (p.Thr43=) rs10033086
NM_001145847.2(PROM1):c.1552-6T>C rs181261277
NM_001145847.2(PROM1):c.15C>T (p.Leu5=) rs10033189
NM_001145847.2(PROM1):c.1656-3C>T rs143470288
NM_001145847.2(PROM1):c.1741-5C>T rs55708318
NM_001145847.2(PROM1):c.1950C>T (p.Asn650=) rs149028760
NM_001145847.2(PROM1):c.1956+14G>A rs4698436
NM_001145847.2(PROM1):c.2244C>T (p.Ile748=) rs375986111
NM_001145847.2(PROM1):c.228G>A (p.Leu76=) rs76963591
NM_001145847.2(PROM1):c.2347-14dup rs370477050
NM_001145847.2(PROM1):c.2347-5dup rs34269395
NM_001145847.2(PROM1):c.55T>G (p.Ser19Ala) rs189108830
NM_001145847.2(PROM1):c.577C>G (p.Arg193Gly) rs140872693
NM_001145847.2(PROM1):c.651G>A (p.Ala217=) rs187116049
NM_001145847.2(PROM1):c.759G>A (p.Ala253=) rs2286455
NM_001145847.2(PROM1):c.841A>C (p.Ser281Arg) rs182096110
NM_001201543.2(FAM161A):c.1013G>A (p.Arg338Gln) rs149314387
NM_001201543.2(FAM161A):c.1929A>G (p.Ser643=) rs369633003
NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile) rs145199539
NM_001201543.2(FAM161A):c.1989C>T (p.Val663=) rs201362403
NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=) rs138464813
NM_001201543.2(FAM161A):c.354G>T (p.Gln118His) rs140622968
NM_001201543.2(FAM161A):c.717G>A (p.Pro239=) rs377016856
NM_001242957.2(MAK):c.1184G>T (p.Arg395Leu) rs62000445
NM_001242957.2(MAK):c.1715T>C (p.Ile572Thr) rs79544660
NM_001242957.2(MAK):c.405T>G (p.Gly135=) rs373994062
NM_001242957.2(MAK):c.975G>A (p.Pro325=) rs145014649
NM_001278293.3(ARL6):c.480-8C>T rs77010939
NM_001278293.3(ARL6):c.536-4T>C rs201939836
NM_001297.5(CNGB1):c.-47A>G rs186471030
NM_001297.5(CNGB1):c.1089_1091GGA[6] (p.Glu371dup) rs141566950
NM_001297.5(CNGB1):c.1122-15C>T rs2303778
NM_001297.5(CNGB1):c.1473G>A (p.Pro491=) rs9925973
NM_001297.5(CNGB1):c.1580C>T (p.Ala527Val) rs78292723
NM_001297.5(CNGB1):c.159+14C>T rs199591689
NM_001297.5(CNGB1):c.1626C>T (p.Thr542=) rs148735841
NM_001297.5(CNGB1):c.1644T>C (p.Asp548=) rs2161703
NM_001297.5(CNGB1):c.1958-14A>C rs3991715
NM_001297.5(CNGB1):c.2218-12C>T rs483053
NM_001297.5(CNGB1):c.2233C>A (p.Leu745Ile) rs10459809
NM_001297.5(CNGB1):c.257G>A (p.Arg86Gln) rs8055343
NM_001297.5(CNGB1):c.2664C>A (p.Ala888=) rs413562
NM_001297.5(CNGB1):c.2700G>A (p.Thr900=) rs72782250
NM_001297.5(CNGB1):c.2732A>G (p.Lys911Arg) rs2303785
NM_001297.5(CNGB1):c.2853C>A (p.Asp951Glu) rs7190978
NM_001297.5(CNGB1):c.2881G>T (p.Ala961Ser) rs16942445
NM_001297.5(CNGB1):c.2892+6C>T rs16942441
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583
NM_001297.5(CNGB1):c.3135C>T (p.Asn1045=) rs539304668
NM_001297.5(CNGB1):c.3147C>T (p.His1049=) rs200581517
NM_001297.5(CNGB1):c.327C>T (p.Gly109=) rs17821448
NM_001297.5(CNGB1):c.3462+7T>C rs11076207
NM_001297.5(CNGB1):c.3556C>T (p.Pro1186Ser) rs7190372
NM_001297.5(CNGB1):c.412+8C>A rs185727761
NM_001297.5(CNGB1):c.453C>T (p.Asp151=) rs16959602
NM_001297.5(CNGB1):c.534+7C>G rs16959600
NM_001297.5(CNGB1):c.606A>G (p.Glu202=) rs76788887
NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser) rs192628905
NM_001297.5(CNGB1):c.712G>A (p.Gly238Ser) rs61745888
NM_002900.3(RBP3):c.1044C>T (p.Pro348=) rs547601457
NM_002900.3(RBP3):c.1083G>C (p.Thr361=) rs146487673
NM_002900.3(RBP3):c.1776C>G (p.Thr592=) rs139452142
NM_002900.3(RBP3):c.1809C>T (p.Gly603=) rs34044042
NM_002900.3(RBP3):c.1933C>T (p.His645Tyr) rs138305522
NM_002900.3(RBP3):c.2247C>T (p.Asp749=) rs34691259
NM_002900.3(RBP3):c.2416C>T (p.Arg806Cys) rs35238500
NM_002900.3(RBP3):c.2619C>T (p.Ala873=) rs146045906
NM_002900.3(RBP3):c.3381G>A (p.Gln1127=) rs113381589
NM_002900.3(RBP3):c.78C>T (p.Ser26=) rs115562835
NM_002900.3(RBP3):c.837G>A (p.Thr279=) rs2376635
NM_002900.3(RBP3):c.927C>T (p.Ala309=) rs75452094
NM_003322.6(TULP1):c.1341G>A (p.Leu447=) rs61734562
NM_003322.6(TULP1):c.249G>A (p.Ala83=) rs377105125
NM_003322.6(TULP1):c.544A>G (p.Arg182Gly) rs142641513
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr) rs2064317
NM_004183.4(BEST1):c.1070C>T (p.Ala357Val) rs17854138
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) rs111326315
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys) rs147192139
NM_004183.4(BEST1):c.213C>T (p.Ser71=) rs57132800
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284
NM_004183.4(BEST1):c.495G>A (p.Pro165=) rs182941675
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046
NM_004183.4(BEST1):c.618G>A (p.Leu206=) rs62641693
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile) rs74653691
NM_004183.4(BEST1):c.637-6C>T rs62639356
NM_006343.3(MERTK):c.102A>G (p.Leu34=) rs143215350
NM_006343.3(MERTK):c.1261C>T (p.Arg421Trp) rs142985827
NM_006343.3(MERTK):c.1960+8C>T rs112541306
NM_006343.3(MERTK):c.2028C>T (p.Tyr676=) rs56225811
NM_006343.3(MERTK):c.2608G>A (p.Val870Ile) rs2230517
NM_006343.3(MERTK):c.2916G>A (p.Ser972=) rs10205793
NM_006343.3(MERTK):c.353G>A (p.Ser118Asn) rs13027171
NM_006343.3(MERTK):c.60A>T (p.Arg20Ser) rs35898499
NM_006343.3(MERTK):c.756A>G (p.Pro252=) rs3761702
NM_006343.3(MERTK):c.844G>A (p.Ala282Thr) rs7588635
NM_006343.3(MERTK):c.960+9C>A rs373198570
NM_006899.5(IDH3B):c.1047G>A (p.Val349=) rs75848934
NM_006899.5(IDH3B):c.117+6C>A rs191680997
NM_007123.5(USH2A):c.3801G>A (p.Ala1267=) rs537863698
NM_007123.5(USH2A):c.4252-36CTTT[5] rs372388546
NM_007123.5(USH2A):c.486-15C>T rs114194722
NM_014249.4(NR2E3):c.245+9G>A rs538864090
NM_014249.4(NR2E3):c.264G>T (p.Gly88=) rs558123422
NM_014249.4(NR2E3):c.349+8G>A rs112520386
NM_014249.4(NR2E3):c.419A>G (p.Glu140Gly) rs1805020
NM_014249.4(NR2E3):c.488T>C (p.Met163Thr) rs1805021
NM_014249.4(NR2E3):c.505C>T (p.Leu169=) rs1805022
NM_014249.4(NR2E3):c.900G>A (p.Thr300=) rs184906734
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_016247.4(IMPG2):c.1169G>A (p.Arg390His) rs139255481
NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met) rs148056371
NM_016247.4(IMPG2):c.1382C>G (p.Thr461Arg) rs201905772
NM_016247.4(IMPG2):c.1908T>C (p.Asp636=) rs35648234
NM_016247.4(IMPG2):c.3038C>T (p.Pro1013Leu) rs116450347
NM_016247.4(IMPG2):c.3561C>T (p.Ser1187=) rs139496326
NM_016247.4(IMPG2):c.534-13dup rs567795716
NM_018418.5(SPATA7):c.207G>A (p.Ser69=) rs142913613
NM_018418.5(SPATA7):c.220G>A (p.Val74Met) rs3179969
NM_018418.5(SPATA7):c.387G>A (p.Pro129=) rs199727517
NM_018418.5(SPATA7):c.4G>A (p.Asp2Asn) rs4904448
NM_018418.5(SPATA7):c.57G>T (p.Pro19=) rs367830780
NM_018418.5(SPATA7):c.729C>T (p.Arg243=) rs151338404
NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln) rs34682727
NM_022367.4(SEMA4A):c.1086A>C (p.Ser362=) rs145993678
NM_022367.4(SEMA4A):c.1215G>T (p.Thr405=) rs151260330
NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) rs2075164
NM_022367.4(SEMA4A):c.1694-13C>G rs144540956
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017
NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys) rs199933282
NM_022367.4(SEMA4A):c.405T>C (p.Asn135=) rs56271605
NM_022367.4(SEMA4A):c.492C>T (p.Ile164=) rs562037528
NM_022367.4(SEMA4A):c.810+7G>A rs568949451
NM_022367.4(SEMA4A):c.84G>A (p.Thr28=) rs149711133
NM_152443.3(RDH12):c.482G>A (p.Arg161Gln) rs17852293
NM_152443.3(RDH12):c.570C>T (p.Ser190=) rs79869437
NM_152443.3(RDH12):c.662C>T (p.Thr221Ile) rs769317754
NM_177965.4(C8orf37):c.156-11C>T rs74652296
NM_177965.4(C8orf37):c.450G>A (p.Ser150=) rs35141355
NM_177965.4(C8orf37):c.528A>G (p.Thr176=) rs143748636
NM_177965.4(C8orf37):c.55C>G (p.Pro19Ala) rs36096184
NM_198309.3(TTC8):c.-25G>A rs7145692
NM_198309.3(TTC8):c.1371G>A (p.Pro457=) rs114064158
NM_198309.3(TTC8):c.1402-12T>C rs79747892
NM_198309.3(TTC8):c.1433C>T (p.Ala478Val) rs199649536
NM_198309.3(TTC8):c.639G>A (p.Lys213=) rs141304350
NM_201253.3(CRB1):c.*28T>C rs41302107
NM_201253.3(CRB1):c.1533C>T (p.Ala511=) rs142224492
NM_201253.3(CRB1):c.1647T>C (p.Asn549=) rs62636283
NM_201253.3(CRB1):c.1752C>T (p.Asp584=) rs750442312
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) rs144436610
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287
NM_201253.3(CRB1):c.2307C>T (p.Arg769=) rs151104285
NM_201253.3(CRB1):c.2419C>T (p.Leu807=) rs371089348
NM_201253.3(CRB1):c.2677-8C>T rs73071678
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln) rs114052315
NM_201253.3(CRB1):c.2715G>A (p.Arg905=) rs534108312
NM_201253.3(CRB1):c.3228T>C (p.Asp1076=) rs780576185
NM_201253.3(CRB1):c.3750-3T>C rs187937543
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285
NM_201253.3(CRB1):c.4005+4AGC[3] rs550852869
NM_201253.3(CRB1):c.484G>A (p.Val162Met) rs137853138
NM_201253.3(CRB1):c.600A>G (p.Thr200=) rs77713666
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys) rs114846212
NM_201253.3(CRB1):c.99G>T (p.Arg33Ser) rs59691602
NM_201548.5(CERKL):c.1523C>T (p.Ser508Leu) rs146913105
NM_201548.5(CERKL):c.15G>A (p.Arg5=) rs762405291
NM_201548.5(CERKL):c.199G>A (p.Ala67Thr) rs61733527
NM_201548.5(CERKL):c.239-12T>A rs6433923
NM_201548.5(CERKL):c.239-12dup rs201864646
NM_201548.5(CERKL):c.242A>C (p.Asp81Ala) rs61750041
NM_201548.5(CERKL):c.313C>T (p.Arg105Trp) rs149078111
NM_201548.5(CERKL):c.66C>G (p.Pro22=) rs199762900
NM_201548.5(CERKL):c.735G>C (p.Leu245=) rs140898616
NM_201548.5(CERKL):c.820+9G>A rs189638090
NM_201548.5(CERKL):c.895+3A>G rs12623687
NM_201548.5(CERKL):c.900T>C (p.His300=) rs183252158
NM_205861.3(DHDDS):c.140G>A (p.Arg47Gln) rs149949619
NM_205861.3(DHDDS):c.990T>C (p.Thr330=) rs773902080
NM_206933.3(USH2A):c.1179A>G (p.Gln393=) rs148447919
NM_206933.3(USH2A):c.1419C>T (p.Thr473=) rs1805050
NM_206933.3(USH2A):c.1530C>T (p.Asp510=) rs200940197
NM_206933.3(USH2A):c.1731C>T (p.Cys577=) rs41313732
NM_206933.3(USH2A):c.2001C>T (p.His667=) rs142870255
NM_206933.3(USH2A):c.2137G>C (p.Gly713Arg) rs696723
NM_206933.3(USH2A):c.3320T>G (p.Ile1107Ser) rs146372677
NM_206933.3(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834
NM_206933.3(USH2A):c.3621C>T (p.Ile1207=) rs146462407
NM_206933.3(USH2A):c.3648C>T (p.Tyr1216=) rs147947402
NM_206933.3(USH2A):c.3700A>G (p.Ile1234Val) rs200276882
NM_206933.3(USH2A):c.3812-8T>G rs646094
NM_206933.3(USH2A):c.4440C>T (p.Ser1480=) rs111632670
NM_206933.3(USH2A):c.4445C>T (p.Thr1482Ile) rs200790812
NM_206933.3(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255
NM_206933.3(USH2A):c.485+12T>C rs201857884

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