ClinVar Miner

List of variants studied for central areolar choroidal dystrophy

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys) rs425876 0.92861
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_000322.5(PRPH2):c.318T>C (p.Val106=) rs7764439 0.59853
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
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_000180.4(GUCY2D):c.2345T>A (p.Leu782His) rs8069344 0.20071
NM_000180.4(GUCY2D):c.2576+37G>T rs12103471 0.12387
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
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_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu) rs28743021 0.01496
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_000322.5(PRPH2):c.133C>T (p.Leu45Phe) rs61755770 0.00414
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=) rs55916957 0.00340
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_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) rs138836357 0.00069
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=) rs61755813 0.00062
NM_000180.4(GUCY2D):c.1081G>A (p.Val361Met) rs186508466 0.00057
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser) rs146820642 0.00053
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_000180.4(GUCY2D):c.1984G>A (p.Val662Met) rs143585840 0.00021
NM_000322.5(PRPH2):c.*661G>A rs753202254 0.00020
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000180.4(GUCY2D):c.2318T>C (p.Met773Thr) rs143650826 0.00019
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_000180.4(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664 0.00010
NM_000322.5(PRPH2):c.*1079G>A rs572613522 0.00010
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 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_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg) rs140638938 0.00006
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_000180.4(GUCY2D):c.2059C>T (p.His687Tyr) rs751340355 0.00005
NM_000322.5(PRPH2):c.888C>T (p.Pro296=) rs183714869 0.00005
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00004
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_000180.4(GUCY2D):c.2595del (p.Lys866fs) rs1200134985 0.00003
NM_000322.5(PRPH2):c.*692C>T rs949736334 0.00003
NM_000322.5(PRPH2):c.-59G>A rs886061405 0.00003
NM_000180.4(GUCY2D):c.1566+3G>T rs752607737 0.00002
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn) rs188568530 0.00002
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter) rs756730335 0.00002
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_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter) rs748798324 0.00001
NM_000180.4(GUCY2D):c.2146G>A (p.Asp716Asn) rs755464893 0.00001
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 0.00001
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln) rs61750171 0.00001
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000180.4(GUCY2D):c.3224+1G>C rs757823463 0.00001
NM_000322.4(PRPH2):c.-282G>A rs886061408 0.00001
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.136C>T (p.Arg46Ter) rs61755771 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.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly) rs767471467 0.00001
NM_000322.5(PRPH2):c.852C>A (p.Arg284=) rs745807357 0.00001
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.1214_1216delinsCAA (p.Leu405_Asp406delinsProAsn)
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.131TGC[1] (p.Leu45del) rs2151799258
NM_000180.4(GUCY2D):c.1341dup (p.Ser448fs)
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter) rs61749679
NM_000180.4(GUCY2D):c.1378+1G>T
NM_000180.4(GUCY2D):c.1567-15A>T rs1975776690
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
NM_000180.4(GUCY2D):c.1789G>A (p.Gly597Arg)
NM_000180.4(GUCY2D):c.1956+1G>A
NM_000180.4(GUCY2D):c.1974C>A (p.His658Gln) rs1975872237
NM_000180.4(GUCY2D):c.2071del (p.Leu691fs)
NM_000180.4(GUCY2D):c.2260G>T (p.Glu754Ter) rs747951577
NM_000180.4(GUCY2D):c.2291del (p.Pro764fs)
NM_000180.4(GUCY2D):c.2476C>T (p.Gln826Ter) rs1338490917
NM_000180.4(GUCY2D):c.2515_2522del (p.Thr839fs)
NM_000180.4(GUCY2D):c.2646C>G (p.Tyr882Ter) rs1567961697
NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter) rs1006935198
NM_000180.4(GUCY2D):c.2798T>C (p.Val933Ala) rs1567961904
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.4(GUCY2D):c.3127del (p.Thr1043fs)
NM_000180.4(GUCY2D):c.40C>G (p.Pro14Ala) rs1975658549
NM_000180.4(GUCY2D):c.49T>C (p.Cys17Arg) rs1008930073
NM_000180.4(GUCY2D):c.856_876dup (p.Ser286_Leu292dup) rs2151799690
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.*468_*469del rs886061401
NM_000322.5(PRPH2):c.*483_*484dup rs55851577
NM_000322.5(PRPH2):c.*484del rs55851577
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.273T>A (p.Tyr91Ter) rs1761914145
NM_000322.5(PRPH2):c.273T>G (p.Tyr91Ter)
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.4G>A (p.Ala2Thr) rs1424831291
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.545dup (p.Asn182fs) rs2152010877
NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu) rs121918567
NM_000322.5(PRPH2):c.642C>T (p.Cys214=)
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) rs61755814
NM_000322.5(PRPH2):c.859C>T (p.Gln287Ter)
NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp) rs61748432
NM_000322.5(PRPH2):c.914del (p.Gly305fs) rs2152003847
NM_000322.5(PRPH2):c.92G>T (p.Gly31Val) rs886061404
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser) rs915505702
NM_015072.5(TTLL5):c.1560dup (p.Asp521Ter) rs1400806789

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