ClinVar Miner

List of variants studied for adult-onset foveomacular vitelliform dystrophy

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 129
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys) rs425876 0.92861
NM_016247.4(IMPG2):c.3381C>T (p.Leu1127=) rs348867 0.80304
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu) rs390659 0.78498
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly) rs434102 0.77412
NM_000322.5(PRPH2):c.*1375C>T rs405043 0.77180
NM_000322.5(PRPH2):c.*1357C>T rs405059 0.77171
NM_000322.5(PRPH2):c.*543G>A rs432753 0.77168
NM_000322.5(PRPH2):c.*762C>T rs1758213 0.77165
NM_016247.4(IMPG2):c.85+25T>G rs573908 0.71056
NM_016247.4(IMPG2):c.2021C>T (p.Thr674Ile) rs571391 0.64801
NM_000322.5(PRPH2):c.318T>C (p.Val106=) rs7764439 0.59853
NM_001563.4(IMPG1):c.1552C>G (p.His518Asp) rs3734311 0.46014
NM_000322.5(PRPH2):c.*13C>T rs361524 0.27666
NM_000322.5(PRPH2):c.*145G>A rs835 0.24219
NM_000322.5(PRPH2):c.*898C>A rs3176988 0.22759
NM_000322.5(PRPH2):c.*1001C>A rs45550933 0.22757
NM_001563.4(IMPG1):c.2132G>A (p.Arg711His) rs3734313 0.16006
NM_000322.5(PRPH2):c.-11A>C rs114062933 0.03391
NM_000322.5(PRPH2):c.*132C>T rs77363417 0.02609
NM_000322.5(PRPH2):c.*174C>T rs73426412 0.02603
NM_000322.5(PRPH2):c.*276G>C rs76754927 0.02448
NM_000322.5(PRPH2):c.*839G>A rs73426405 0.02142
NM_016247.4(IMPG2):c.828+17_828+18insC rs199824990 0.01356
NM_000322.5(PRPH2):c.*1230C>T rs79663042 0.01163
NM_000322.5(PRPH2):c.*1565G>A rs41273818 0.00908
NM_000322.5(PRPH2):c.*1534T>C rs115252154 0.00821
NM_000322.5(PRPH2):c.*989G>A rs142990052 0.00657
NM_000322.5(PRPH2):c.*1313G>A rs115451690 0.00625
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe) rs147122501 0.00554
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe) rs61755770 0.00414
NM_000322.5(PRPH2):c.*509G>A rs56194662 0.00277
NM_000322.5(PRPH2):c.*1524G>C rs183409467 0.00247
NM_000322.5(PRPH2):c.-60C>T rs144011444 0.00211
NM_000322.5(PRPH2):c.*1687C>T rs139177846 0.00186
NM_000322.5(PRPH2):c.*1372C>A rs56385342 0.00080
NM_000322.5(PRPH2):c.*351G>A rs551934443 0.00075
NM_000322.5(PRPH2):c.*152G>A rs113384495 0.00073
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=) rs61755813 0.00062
NM_000322.5(PRPH2):c.249C>T (p.Tyr83=) rs61755775 0.00053
NM_000322.5(PRPH2):c.*1408G>C rs573667549 0.00050
NM_000322.5(PRPH2):c.909C>T (p.Ser303=) rs144111167 0.00049
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) rs61748434 0.00044
NM_000322.5(PRPH2):c.*20C>T rs180775924 0.00042
NM_000322.5(PRPH2):c.*592A>T rs573416213 0.00042
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val) rs61755767 0.00026
NM_000322.5(PRPH2):c.*661G>A rs753202254 0.00020
NM_000322.5(PRPH2):c.*1299C>T rs535380944 0.00019
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127 0.00019
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp) rs61754402 0.00018
NM_000322.5(PRPH2):c.-166G>A rs886061407 0.00017
NM_000322.5(PRPH2):c.252C>T (p.Asp84=) rs139936445 0.00017
NM_016247.4(IMPG2):c.745C>T (p.Leu249Phe) rs376443291 0.00015
NM_000322.5(PRPH2):c.*1079G>A rs572613522 0.00010
NM_000322.5(PRPH2):c.*350C>T rs769850707 0.00009
NM_000322.5(PRPH2):c.*743G>A rs941727712 0.00009
NM_000322.5(PRPH2):c.*626A>G rs1383185417 0.00008
NM_000322.5(PRPH2):c.1008C>T (p.Gly336=) rs752365478 0.00006
NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg) rs555112175 0.00006
NM_000322.5(PRPH2):c.888C>T (p.Pro296=) rs183714869 0.00005
NM_001563.4(IMPG1):c.1519C>T (p.Arg507Ter) rs367576664 0.00005
NM_000322.5(PRPH2):c.*1121A>C rs187919973 0.00004
NM_000322.5(PRPH2):c.*417A>T rs531859483 0.00004
NM_000322.5(PRPH2):c.*917G>A rs185036139 0.00004
NM_000322.5(PRPH2):c.312C>T (p.Ile104=) rs200009675 0.00004
NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu) rs201893545 0.00004
NM_000322.5(PRPH2):c.*692C>T rs949736334 0.00003
NM_000322.5(PRPH2):c.-59G>A rs886061405 0.00003
NM_000322.5(PRPH2):c.454A>G (p.Met152Val) rs146703538 0.00002
NM_000322.5(PRPH2):c.801C>T (p.Val267=) rs189358082 0.00002
NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu) rs139329966 0.00002
NM_001563.4(IMPG1):c.332G>A (p.Arg111Gln) rs200194885 0.00002
NM_000322.5(PRPH2):c.*1000C>G rs1367940496 0.00001
NM_000322.5(PRPH2):c.*1007C>A rs886061400 0.00001
NM_000322.5(PRPH2):c.167A>G (p.Glu56Gly) rs1351857575 0.00001
NM_000322.5(PRPH2):c.346G>T (p.Ala116Ser) rs140227298 0.00001
NM_000322.5(PRPH2):c.374C>T (p.Ser125Leu) rs772861671 0.00001
NM_000322.5(PRPH2):c.852C>A (p.Arg284=) rs745807357 0.00001
NM_001563.4(IMPG1):c.461T>C (p.Leu154Pro) rs713993047 0.00001
NM_016247.4(IMPG2):c.2636G>C (p.Ser879Thr) rs774965996 0.00001
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) rs199867882 0.00001
NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter) rs763295314 0.00001
NM_000322.5(PRPH2):c.*152G>C rs113384495
NM_000322.5(PRPH2):c.*1533A>G rs1799950043
NM_000322.5(PRPH2):c.*154C>T rs886061403
NM_000322.5(PRPH2):c.*1580C>G rs886061399
NM_000322.5(PRPH2):c.*213A>C rs886061402
NM_000322.5(PRPH2):c.*797G>A rs188694434
NM_000322.5(PRPH2):c.-116C>G rs886061406
NM_000322.5(PRPH2):c.1024G>T (p.Ala342Ser) rs1799983757
NM_000322.5(PRPH2):c.113del (p.Gly38fs) rs61755769
NM_000322.5(PRPH2):c.246_249del (p.Cys82fs) rs1761915143
NM_000322.5(PRPH2):c.2T>C (p.Met1Thr) rs121918565
NM_000322.5(PRPH2):c.316_317del (p.Val106fs) rs1562434117
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) rs61755781
NM_000322.5(PRPH2):c.483C>T (p.Ile161=) rs76989855
NM_000322.5(PRPH2):c.484G>A (p.Glu162Lys) rs769939935
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.530T>G (p.Ile177Ser)
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg) rs61755798
NM_000322.5(PRPH2):c.636C>G (p.Ser212Arg) rs1554269071
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.668T>C (p.Ile223Thr) rs1800114220
NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg) rs61755817
NM_000322.5(PRPH2):c.774C>A (p.Tyr258Ter) rs121918564
NM_000322.5(PRPH2):c.824_828+3delinsCATTTGGGCTCCTCATTTGG rs2152005182
NM_000322.5(PRPH2):c.829-1G>A rs1582759782
NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter) rs61748430
NM_000322.5(PRPH2):c.92G>T (p.Gly31Val) rs886061404
NM_000322.5(PRPH2):c.934del (p.Val312fs) rs1799986608
NM_000322.5(PRPH2):c.947G>A (p.Trp316Ter) rs121918566
NM_001563.4(IMPG1):c.1530del (p.Gly511fs)
NM_001563.4(IMPG1):c.1751T>C (p.Met584Thr) rs1782008139
NM_001563.4(IMPG1):c.1824+1G>A rs770887047
NM_001563.4(IMPG1):c.2362G>T (p.Glu788Ter)
NM_001563.4(IMPG1):c.713T>G (p.Leu238Arg) rs713993045
NM_001563.4(IMPG1):c.807+1G>T rs713993046
NM_001563.4(IMPG1):c.807+5G>A rs2149482319
NM_001563.4(IMPG1):c.960T>A (p.Ser320Arg) rs1783079545
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_016247.4(IMPG2):c.1658del (p.Val553fs) rs1706456124
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter) rs786205564
NM_016247.4(IMPG2):c.2816T>A (p.Leu939His) rs1559642470
NM_016247.4(IMPG2):c.2887A>G (p.Ser963Gly) rs941586075
NM_016247.4(IMPG2):c.3047T>C (p.Phe1016Ser)
NM_016247.4(IMPG2):c.3230G>T (p.Cys1077Phe) rs713993049
NM_016247.4(IMPG2):c.380G>C (p.Arg127Pro) rs766305807
NM_016247.4(IMPG2):c.478G>T (p.Glu160Ter)
NM_016247.4(IMPG2):c.727G>C (p.Ala243Pro) rs1706811719
NM_016247.4(IMPG2):c.86-8C>G

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.