ClinVar Miner

List of variants reported by NEI Ophthalmic Genomics Laboratory, National Institutes of Health

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 175
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.1263T>C (p.Thr421=) rs7921598 0.23801
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269 0.22813
NM_000350.3(ABCA4):c.6730-3T>C rs1800717 0.15096
NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile) rs17712523 0.14536
NM_001297.5(CNGB1):c.2233C>A (p.Leu745Ile) rs10459809 0.14066
NM_172364.5(CACNA2D4):c.2517G>A (p.Ala839=) rs33972365 0.14052
NM_022124.6(CDH23):c.7C>T (p.Arg3Cys) rs7902757 0.12266
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys) rs1801687 0.09261
NM_006343.3(MERTK):c.2608G>A (p.Val870Ile) rs2230517 0.08379
NM_031935.3(HMCN1):c.14158G>A (p.Ala4720Thr) rs6693069 0.06856
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met) rs17544552 0.06764
NM_000843.4(GRM6):c.2420C>T (p.Ala807Val) rs17078874 0.06684
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_001256789.3(CACNA1F):c.5756G>A (p.Arg1919His) rs33910054 0.06102
NM_001297.5(CNGB1):c.1604T>C (p.Val535Ala) rs12927214 0.05991
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=) rs17543819 0.05741
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048 0.04940
NM_138554.5(TLR4):c.1196C>T (p.Thr399Ile) rs4986791 0.04749
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_001297.5(CNGB1):c.2882C>T (p.Ala961Val) rs112002818 0.04307
NM_002775.5(HTRA1):c.753C>T (p.Ile251=) rs17624021 0.04155
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334 0.03832
NM_174878.3(CLRN1):c.6A>C (p.Pro2=) rs111033422 0.03830
NM_001012720.2(RGR):c.722C>T (p.Ser241Phe) rs61730895 0.03728
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447 0.03706
NM_006017.3(PROM1):c.1768-5C>T rs55708318 0.03551
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_006343.3(MERTK):c.60A>T (p.Arg20Ser) rs35898499 0.03355
NM_206933.4(USH2A):c.9343A>G (p.Thr3115Ala) rs56032526 0.03269
NM_001297.5(CNGB1):c.1473G>A (p.Pro491=) rs9925973 0.03233
NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=) rs17624033 0.03213
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn) rs28507107 0.02805
NM_000283.4(PDE6B):c.143G>A (p.Arg48Gln) rs113842820 0.02573
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343 0.02332
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val) rs16957538 0.02076
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_206933.4(USH2A):c.6875G>A (p.Arg2292His) rs41277210 0.02015
NM_014336.5(AIPL1):c.111C>T (p.Phe37=) rs11650007 0.02008
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01991
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu) rs111033381 0.01895
NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser) rs35807406 0.01728
NM_172364.5(CACNA2D4):c.2065A>G (p.Ile689Val) rs76224631 0.01557
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_031935.3(HMCN1):c.13313-4G>A rs41317497 0.01218
NM_000717.5(CA4):c.700G>A (p.Val234Ile) rs117704637 0.01071
NM_006343.3(MERTK):c.878G>A (p.Arg293His) rs34072093 0.01044
NM_206933.4(USH2A):c.7584C>T (p.Thr2528=) rs78250390 0.00976
NM_001793.6(CDH3):c.1285G>A (p.Val429Ile) rs34394404 0.00905
NM_006269.2(RP1):c.2255C>T (p.Thr752Met) rs28399531 0.00832
NM_031935.3(HMCN1):c.9397A>G (p.Ile3133Val) rs79178888 0.00827
NM_144596.4(TTC8):c.625-5C>T rs137853922 0.00807
NM_004744.5(LRAT):c.74T>A (p.Phe25Tyr) rs75368761 0.00748
NM_000717.5(CA4):c.716G>A (p.Arg239Gln) rs76995634 0.00739
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_201253.3(CRB1):c.99G>T (p.Arg33Ser) rs59691602 0.00655
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_207352.4(CYP4V2):c.1114G>A (p.Val372Ile) rs61755911 0.00633
NM_031935.3(HMCN1):c.4586A>G (p.Asn1529Ser) rs41317471 0.00550
NM_014336.5(AIPL1):c.937G>T (p.Ala313Ser) rs115681466 0.00535
NM_002098.6(GUCA1B):c.253G>A (p.Val85Met) rs137853903 0.00521
NM_032119.4(ADGRV1):c.5525-7C>T rs137853919 0.00429
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921 0.00380
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909 0.00359
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) rs137853918 0.00316
NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val) rs61733362 0.00312
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_012418.4(FSCN2):c.49G>A (p.Val17Ile) rs137853900 0.00240
NM_138554.5(TLR4):c.842G>A (p.Cys281Tyr) rs137853920 0.00232
NM_133497.4(KCNV2):c.-2C>T rs75316505 0.00207
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060 0.00189
NM_004183.4(BEST1):c.1739+189C>T rs137853901 0.00116
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835 0.00113
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu) rs62645939 0.00079
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902 0.00071
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333 0.00063
NM_020366.4(RPGRIP1):c.3358A>G (p.Ile1120Val) rs137853911 0.00051
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) rs61748434 0.00044
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val) rs61755767 0.00026
NM_000322.5(PRPH2):c.75G>C (p.Trp25Cys) rs146686238 0.00024
NM_006269.2(RP1):c.6055G>A (p.Gly2019Ser) rs137853908 0.00021
NM_000322.5(PRPH2):c.541A>T (p.Ser181Cys) rs1465783712 0.00018
NM_000440.3(PDE6A):c.879G>A (p.Pro293=) rs137853899 0.00016
NM_022124.6(CDH23):c.8411A>G (p.Lys2804Arg) rs137853912 0.00011
NM_031935.3(HMCN1):c.6917G>A (p.Arg2306Gln) rs137853916 0.00011
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter) rs137853907 0.00009
NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn) rs747893076 0.00004
NM_000322.5(PRPH2):c.380A>G (p.Glu127Gly) rs543703718 0.00003
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln) rs554945964 0.00003
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155 0.00003
NM_000180.4(GUCY2D):c.1720C>T (p.Arg574Cys) rs137853897 0.00002
NM_000322.5(PRPH2):c.937C>T (p.Pro313Ser) rs746742888 0.00002
NM_019098.5(CNGB3):c.384C>T (p.Ala128=) rs137853910 0.00002
NM_206933.4(USH2A):c.14792-2A>G rs137853923 0.00002
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771 0.00001
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000322.5(PRPH2):c.537G>T (p.Trp179Cys) rs779414078 0.00001
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro) rs121918563 0.00001
NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr) rs61755803 0.00001
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) rs61755806 0.00001
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly) rs767471467 0.00001
NM_000322.5(PRPH2):c.683C>T (p.Thr228Ile) rs369507460 0.00001
NM_000322.5(PRPH2):c.828+3A>T rs281865373 0.00001
NM_000322.5(PRPH2):c.113del (p.Gly38fs) rs61755769
NM_000322.5(PRPH2):c.163del (p.Ser55fs) rs1761917286
NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter) rs1242862941
NM_000322.5(PRPH2):c.259_266del (p.Asp87fs) rs1554270834
NM_000322.5(PRPH2):c.303C>G (p.Tyr101Ter) rs61755776
NM_000322.5(PRPH2):c.310_313del (p.Ile104fs) rs1761913253
NM_000322.5(PRPH2):c.318del (p.Leu107fs) rs1761913048
NM_000322.5(PRPH2):c.389T>C (p.Leu130Pro) rs1761911206
NM_000322.5(PRPH2):c.394del (p.Gln132fs) rs769723975
NM_000322.5(PRPH2):c.403A>G (p.Lys135Glu) rs1761910611
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) rs61755781
NM_000322.5(PRPH2):c.441del (p.Gly148fs) rs61755784
NM_000322.5(PRPH2):c.458A>C (p.Lys153Thr) rs61755785
NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del) rs61755786
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn) rs61755787
NM_000322.5(PRPH2):c.478C>T (p.Gln160Ter) rs1582780550
NM_000322.5(PRPH2):c.483C>G (p.Ile161Met) rs76989855
NM_000322.5(PRPH2):c.494G>T (p.Cys165Phe) rs61755788
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.521G>C (p.Trp174Ser) rs1761906296
NM_000322.5(PRPH2):c.522G>C (p.Trp174Cys) rs1064793237
NM_000322.5(PRPH2):c.535T>C (p.Trp179Arg) rs61755796
NM_000322.5(PRPH2):c.582-1G>A rs1800118693
NM_000322.5(PRPH2):c.583C>T (p.Arg195Ter) rs1322278463
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln) rs121918567
NM_000322.5(PRPH2):c.587T>A (p.Ile196Asn) rs1131691378
NM_000322.5(PRPH2):c.588_589dup (p.Lys197fs) rs1800118385
NM_000322.5(PRPH2):c.597del (p.Asn199fs) rs1800118044
NM_000322.5(PRPH2):c.610T>C (p.Tyr204His) rs997283737
NM_000322.5(PRPH2):c.612C>A (p.Tyr204Ter) rs1554269081
NM_000322.5(PRPH2):c.614T>C (p.Leu205Pro) rs1800117244
NM_000322.5(PRPH2):c.620A>G (p.Asp207Gly) rs1800116925
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg) rs61755798
NM_000322.5(PRPH2):c.631T>C (p.Phe211Leu) rs1800116126
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly) rs61755800
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr) rs61755801
NM_000322.5(PRPH2):c.638G>C (p.Cys213Ser) rs61755803
NM_000322.5(PRPH2):c.639C>G (p.Cys213Trp) rs1800115811
NM_000322.5(PRPH2):c.642C>A (p.Cys214Ter) rs1388865786
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000322.5(PRPH2):c.646_649delinsGG (p.Pro216fs) rs1800115494
NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter) rs986748364
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.659G>C (p.Arg220Pro) rs61755810
NM_000322.5(PRPH2):c.665G>A (p.Cys222Tyr) rs1442844778
NM_000322.5(PRPH2):c.675T>A (p.Tyr225Ter) rs1800114066
NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter) rs61755813
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) rs61755814
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly) rs542296728
NM_000322.5(PRPH2):c.748T>A (p.Cys250Ser) rs1064793931
NM_000322.5(PRPH2):c.761T>A (p.Leu254Gln) rs1800110989
NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del) rs1582764519
NM_000322.5(PRPH2):c.828+2T>C rs1800108496
NM_000322.5(PRPH2):c.903_906del (p.Ser301fs) rs1799988458
NM_000322.5(PRPH2):c.933C>T (p.Ser311=) rs137853904
NM_000322.5(PRPH2):c.937_938del (p.Pro313fs) rs1799986489
NM_000322.5(PRPH2):c.961G>T (p.Glu321Ter) rs749391375
NM_000322.5(PRPH2):c.974_977del (p.Lys325fs) rs1799985503
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu) rs1582759492
NM_000350.3(ABCA4):c.3595C>T (p.Gln1199Ter) rs137853898
NM_001256789.3(CACNA1F):c.4128G>T (p.Glu1376Asp) rs137853906
NM_004183.4(BEST1):c.727G>A (p.Ala243Thr) rs137853905
NM_005499.3(UBA2):c.800T>A (p.Leu267Ter) rs2075478466
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_031935.3(HMCN1):c.5482A>G (p.Ile1828Val) rs137853915
NM_032119.4(ADGRV1):c.16308C>A (p.Thr5436=) rs137853917

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.