ClinVar Miner

List of variants in gene PRPH2 studied for Patterned macular dystrophy 1

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Total variants: 110
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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 0.77333
NM_000322.5(PRPH2):c.*543G>A rs432753 0.77168
NM_000322.5(PRPH2):c.*1375C>T rs405043 0.77145
NM_000322.5(PRPH2):c.*1357C>T rs405059 0.77141
NM_000322.5(PRPH2):c.*762C>T rs1758213 0.77129
NM_000322.5(PRPH2):c.318T>C (p.Val106=) rs7764439 0.59432
NM_000322.5(PRPH2):c.*13C>T rs361524 0.27666
NM_000322.5(PRPH2):c.*145G>A rs835 0.24338
NM_000322.5(PRPH2):c.*898C>A rs3176988 0.22759
NM_000322.5(PRPH2):c.*1001C>A rs45550933 0.22757
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.*276G>C rs76754927 0.02448
NM_000322.5(PRPH2):c.*174C>T rs73426412 0.02418
NM_000322.5(PRPH2):c.*839G>A rs73426405 0.02142
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 0.00774
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_000322.5(PRPH2):c.*509G>A rs56194662 0.00272
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 0.00196
NM_000322.5(PRPH2):c.*1372C>A rs56385342 0.00080
NM_000322.5(PRPH2):c.*351G>A rs551934443 0.00072
NM_000322.5(PRPH2):c.*152G>A rs113384495 0.00068
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.37C>T (p.Arg13Trp) rs61754402 0.00027
NM_000322.5(PRPH2):c.*661G>A rs753202254 0.00020
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127 0.00019
NM_000322.5(PRPH2):c.*1299C>T rs535380944 0.00017
NM_000322.5(PRPH2):c.-166G>A rs886061407 0.00017
NM_000322.5(PRPH2):c.252C>T (p.Asp84=) rs139936445 0.00017
NM_000322.5(PRPH2):c.*350C>T rs769850707 0.00011
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.*1121A>C rs187919973 0.00009
NM_000322.5(PRPH2):c.*743G>A rs941727712 0.00009
NM_000322.5(PRPH2):c.*626A>G rs1383185417 0.00007
NM_000322.5(PRPH2):c.1008C>T (p.Gly336=) rs752365478 0.00005
NM_000322.5(PRPH2):c.888C>T (p.Pro296=) rs183714869 0.00005
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_000322.5(PRPH2):c.*692C>T rs949736334 0.00003
NM_000322.5(PRPH2):c.-59G>A rs886061405 0.00003
NM_000322.5(PRPH2):c.346G>T (p.Ala116Ser) rs140227298 0.00003
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771 0.00002
NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg) rs555112175 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_000322.4(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.*154C>T rs886061403 0.00001
NM_000322.5(PRPH2):c.167A>G (p.Glu56Gly) rs1351857575 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.554T>C (p.Leu185Pro) rs121918563 0.00001
NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr) rs61755803 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_000322.5(PRPH2):c.955T>C (p.Phe319Leu) rs139329966 0.00001
NM_000322.5(PRPH2):c.*152G>C rs113384495
NM_000322.5(PRPH2):c.*1533A>G rs1799950043
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.227C>A (p.Ser76Ter) rs1203908646
NM_000322.5(PRPH2):c.371dup (p.Ser125fs)
NM_000322.5(PRPH2):c.418_421dup (p.Tyr141fs) rs672601326
NM_000322.5(PRPH2):c.422A>C (p.Tyr141Ser)
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) rs61755781
NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del) rs61755786
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.500G>A (p.Gly167Asp) rs61755789
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.523T>G (p.Phe175Val) rs1562433845
NM_000322.5(PRPH2):c.581+5G>A rs2152010844
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.605G>A (p.Gly202Glu) rs1800117660
NM_000322.5(PRPH2):c.611_626del (p.Tyr204fs) rs1800116472
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr) rs61755801
NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg) rs61755802
NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter) rs1554269046
NM_000322.5(PRPH2):c.737G>A (p.Trp246Ter) rs1582764697
NM_000322.5(PRPH2):c.749G>A (p.Cys250Tyr) rs1458793437
NM_000322.5(PRPH2):c.794T>G (p.Met265Arg) rs1582764600
NM_000322.5(PRPH2):c.828+3A>T rs281865373
NM_000322.5(PRPH2):c.829-4C>G rs1582759785
NM_000322.5(PRPH2):c.863dup (p.Ser289fs)
NM_000322.5(PRPH2):c.897_898del (p.Ser301fs) rs61748429
NM_000322.5(PRPH2):c.92G>T (p.Gly31Val) rs886061404

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