ClinVar Miner

List of variants studied for age-related macular degeneration by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 308
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HGVS dbSNP gnomAD frequency
NM_000099.4(CST3):c.73G>A (p.Ala25Thr) rs1064039 0.20062
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_001710.5(CFB):c.94C>T (p.Arg32Trp) rs12614 0.17324
NM_000350.3(ABCA4):c.6730-3T>C rs1800717 0.15096
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp) rs1065489 0.14779
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359 0.13311
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153 0.11820
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_000063.6(C2):c.954G>C (p.Glu318Asp) rs9332739 0.03307
NM_021023.6(CFHR3):c.424C>T (p.Arg142Cys) rs61737525 0.02034
NM_006017.3(PROM1):c.631-14T>C rs16892824 0.01810
NM_000186.4(CFH):c.2236+8T>A rs7537967 0.01429
NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala) rs79183244 0.01053
NM_021023.6(CFHR3):c.720G>C (p.Gln240His) rs149347641 0.01005
NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln) rs148919174 0.00936
NM_001710.6(CFB):c.1137C>T (p.Arg379=) rs45600936 0.00911
NM_021023.6(CFHR3):c.101T>G (p.Phe34Cys) rs61737523 0.00809
NM_002113.3(CFHR1):c.19del (p.Ser6_Val7insTer) rs769938205 0.00770
NM_000186.4(CFH):c.1159+19T>G rs35695425 0.00756
NM_000064.4(C3):c.1976-19C>T rs11569433 0.00656
NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile) rs114629728 0.00449
NM_031935.3(HMCN1):c.15010A>T (p.Thr5004Ser) rs114364265 0.00448
NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=) rs138332626 0.00444
NM_000064.4(C3):c.1119+15G>A rs114252882 0.00399
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) rs149101394 0.00391
NM_000064.4(C3):c.3958C>A (p.Arg1320=) rs141718696 0.00386
NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met) rs115246141 0.00350
NM_000350.3(ABCA4):c.1878G>A (p.Ala626=) rs61754023 0.00324
NM_000186.4(CFH):c.428-14T>C rs184188486 0.00271
NM_000186.4(CFH):c.3150T>C (p.Asn1050=) rs113347629 0.00269
NM_000064.4(C3):c.4878T>C (p.Thr1626=) rs1803223 0.00261
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257 0.00250
NM_000064.4(C3):c.2394C>T (p.Ser798=) rs112178657 0.00237
NM_001371596.2(MFSD8):c.66A>T (p.Glu22Asp) rs145529594 0.00224
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863 0.00222
NM_000186.4(CFH):c.3207T>C (p.Ser1069=) rs62641697 0.00219
NM_031935.3(HMCN1):c.10618G>A (p.Val3540Ile) rs140493567 0.00218
NM_000064.4(C3):c.1686+20G>A rs76024222 0.00212
NM_000064.4(C3):c.2245+15G>A rs11569434 0.00192
NM_000064.4(C3):c.2685C>T (p.Ser895=) rs138884408 0.00189
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu) rs138682163 0.00183
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000063.6(C2):c.2046A>G (p.Ala682=) rs45507391 0.00154
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609 0.00142
NM_021023.6(CFHR3):c.805A>G (p.Ile269Val) rs139520520 0.00112
NM_000186.4(CFH):c.1935G>T (p.Thr645=) rs56035657 0.00105
NM_000041.4(APOE):c.651C>T (p.Ala217=) rs72654468 0.00090
NM_000064.4(C3):c.1344C>T (p.Thr448=) rs150934856 0.00086
NM_000064.4(C3):c.4172+19G>A rs181489450 0.00086
NM_000064.4(C3):c.876+19G>A rs11569574 0.00068
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_000064.4(C3):c.2190C>T (p.Tyr730=) rs142455019 0.00055
NM_000186.4(CFH):c.2509G>A (p.Val837Ile) rs55807605 0.00050
NM_000186.4(CFH):c.2637A>G (p.Gly879=) rs55752475 0.00050
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_000064.4(C3):c.1449C>T (p.His483=) rs140133060 0.00044
NM_000186.4(CFH):c.1825G>A (p.Val609Ile) rs148165372 0.00042
NM_000064.4(C3):c.1452G>A (p.Glu484=) rs146594928 0.00041
NM_000064.4(C3):c.1731T>C (p.Pro577=) rs148182019 0.00041
NM_000186.4(CFH):c.2821G>T (p.Val941Phe) rs529491401 0.00039
NM_000186.4(CFH):c.245-8C>T rs537160602 0.00038
NM_000186.4(CFH):c.3133+8G>T rs142718541 0.00036
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg) rs144995371 0.00034
NM_000350.3(ABCA4):c.3416A>G (p.Tyr1139Cys) rs150895509 0.00034
NM_001371596.2(MFSD8):c.1311C>G (p.Ser437=) rs145453022 0.00034
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys) rs200692438 0.00033
NM_000041.4(APOE):c.805C>G (p.Arg269Gly) rs267606661 0.00032
NM_000064.4(C3):c.1909G>C (p.Gly637Arg) rs149850773 0.00031
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys) rs148018494 0.00031
NM_001371596.2(MFSD8):c.1136T>C (p.Phe379Ser) rs191172038 0.00030
NM_000186.4(CFH):c.3172T>C (p.Tyr1058His) rs55679475 0.00029
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu) rs55771831 0.00029
NM_000350.3(ABCA4):c.3076T>C (p.Phe1026Leu) rs369703217 0.00028
NM_000063.6(C2):c.749C>G (p.Ser250Cys) rs150827255 0.00027
NM_000064.4(C3):c.3855C>T (p.Asp1285=) rs142359391 0.00027
NM_000064.4(C3):c.4635C>T (p.Tyr1545=) rs189948635 0.00026
NM_000186.4(CFH):c.3079G>C (p.Ala1027Pro) rs373385518 0.00026
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_000041.4(APOE):c.69G>A (p.Ala23=) rs111833428 0.00024
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) rs1801269 0.00022
NM_000064.4(C3):c.4791G>A (p.Glu1597=) rs149675330 0.00021
NM_000064.4(C3):c.1650C>T (p.Ser550=) rs138835619 0.00019
NM_000064.4(C3):c.1923C>T (p.Asp641=) rs113044084 0.00019
NM_000064.4(C3):c.2354+19C>T rs192942944 0.00019
NM_000186.4(CFH):c.1198C>A (p.Gln400Lys) rs201671665 0.00019
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552 0.00019
NM_001371596.2(MFSD8):c.677T>C (p.Ile226Thr) rs200591471 0.00019
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_001710.6(CFB):c.2100C>T (p.Gly700=) rs116928087 0.00017
NM_001371596.2(MFSD8):c.864-16A>T rs202196597 0.00016
NM_000064.4(C3):c.1722G>A (p.Gln574=) rs140143815 0.00014
NM_000064.4(C3):c.4667A>G (p.Asn1556Ser) rs139381845 0.00014
NM_000186.4(CFH):c.472G>A (p.Val158Ile) rs141852866 0.00014
NM_000350.3(ABCA4):c.6560A>G (p.Gln2187Arg) rs1339233014 0.00014
NM_000041.4(APOE):c.434G>A (p.Gly145Asp) rs267606664 0.00013
NM_000064.4(C3):c.1027C>T (p.Arg343Cys) rs772505177 0.00011
NM_000064.4(C3):c.1273C>T (p.Arg425Cys) rs200967589 0.00011
NM_000064.4(C3):c.1480-10G>A rs200390075 0.00011
NM_000064.4(C3):c.2047+7G>A rs770932217 0.00011
NM_000064.4(C3):c.2204G>A (p.Arg735Gln) rs201285239 0.00011
NM_000064.4(C3):c.2991G>A (p.Ala997=) rs150763358 0.00011
NM_000064.4(C3):c.420C>A (p.Thr140=) rs182399298 0.00011
NM_000186.4(CFH):c.2488C>T (p.Arg830Trp) rs62641696 0.00011
NM_000186.4(CFH):c.476G>A (p.Ser159Asn) rs370640334 0.00011
NM_000186.4(CFH):c.2461C>T (p.His821Tyr) rs367687415 0.00010
NM_000186.4(CFH):c.332T>A (p.Val111Glu) rs576819823 0.00010
NM_006017.3(PROM1):c.-127A>G rs886059206 0.00010
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073 0.00010
NM_000064.4(C3):c.1686G>A (p.Ser562=) rs143750180 0.00009
NM_000064.4(C3):c.216G>A (p.Glu72=) rs375940408 0.00009
NM_000064.4(C3):c.3655C>T (p.Arg1219Cys) rs373102036 0.00009
NM_000064.4(C3):c.987C>T (p.Thr329=) rs748313429 0.00009
NM_000186.4(CFH):c.3045T>C (p.Thr1015=) rs147864267 0.00009
NM_000186.4(CFH):c.3318A>G (p.Thr1106=) rs1137971 0.00009
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145 0.00009
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_000064.4(C3):c.2951-5T>C rs375107570 0.00007
NM_000064.4(C3):c.3124C>T (p.Arg1042Trp) rs550043629 0.00007
NM_000186.4(CFH):c.350+9T>C rs201686629 0.00007
NM_000064.4(C3):c.2248A>T (p.Asn750Tyr) rs769294331 0.00006
NM_000064.4(C3):c.2441-7C>T rs372528487 0.00006
NM_000064.4(C3):c.3018C>T (p.Thr1006=) rs141373588 0.00006
NM_000064.4(C3):c.3858C>T (p.Ala1286=) rs751808949 0.00006
NM_000186.4(CFH):c.1922T>C (p.Val641Ala) rs371768180 0.00006
NM_000186.4(CFH):c.2056+16T>C rs777352172 0.00006
NM_000186.4(CFH):c.2195C>T (p.Thr732Met) rs201360629 0.00006
NM_000186.4(CFH):c.245-17T>A rs775088366 0.00006
NM_000350.3(ABCA4):c.2576A>G (p.Gln859Arg) rs140281495 0.00006
NM_000350.3(ABCA4):c.4715C>T (p.Thr1572Met) rs185093512 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_000064.4(C3):c.1854C>T (p.Asp618=) rs570503574 0.00005
NM_000064.4(C3):c.3096G>C (p.Glu1032Asp) rs148698696 0.00005
NM_000064.4(C3):c.3131G>A (p.Gly1044Glu) rs373392964 0.00005
NM_000064.4(C3):c.4084G>A (p.Asp1362Asn) rs368788004 0.00005
NM_000186.4(CFH):c.3160G>A (p.Val1054Ile) rs757426928 0.00005
NM_000186.4(CFH):c.59-16T>C rs201067374 0.00005
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met) rs142732109 0.00005
NM_001710.6(CFB):c.1778+8C>T rs148298609 0.00005
NM_000064.4(C3):c.1274G>T (p.Arg425Leu) rs201714568 0.00004
NM_000064.4(C3):c.2668C>T (p.Pro890Ser) rs531463049 0.00004
NM_000064.4(C3):c.305G>A (p.Arg102His) rs554587967 0.00004
NM_000064.4(C3):c.769G>A (p.Ala257Thr) rs200918899 0.00004
NM_000064.4(C3):c.944G>A (p.Arg315Gln) rs761503659 0.00004
NM_000186.4(CFH):c.1998G>T (p.Lys666Asn) rs752859825 0.00004
NM_000186.4(CFH):c.2236+18A>G rs749643506 0.00004
NM_000186.4(CFH):c.2957-15T>C rs756514818 0.00004
NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr) rs11539862 0.00004
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) rs121913054 0.00004
NM_000186.4(CFH):c.807T>C (p.Asn269=) rs757654697 0.00004
NM_000186.4(CFH):c.964+18C>A rs1258420173 0.00004
NM_000350.3(ABCA4):c.320G>A (p.Arg107Gln) rs759799179 0.00004
NM_000350.3(ABCA4):c.766G>T (p.Val256Leu) rs374851665 0.00004
NM_001710.6(CFB):c.1374G>A (p.Met458Ile) rs200837114 0.00004
NM_006017.3(PROM1):c.1632G>T (p.Gly544=) rs753308387 0.00004
NM_000041.4(APOE):c.249C>T (p.Asp83=) rs767980905 0.00003
NM_000064.4(C3):c.3702C>T (p.Ser1234=) rs754607975 0.00003
NM_000064.4(C3):c.4029G>A (p.Ser1343=) rs190354796 0.00003
NM_000064.4(C3):c.4177C>T (p.Arg1393Trp) rs148227405 0.00003
NM_000064.4(C3):c.4350+7C>A rs148695501 0.00003
NM_000064.4(C3):c.4457-13C>T rs375382978 0.00003
NM_000064.4(C3):c.4546+18G>A rs377076572 0.00003
NM_000064.4(C3):c.4906G>C (p.Glu1636Gln) rs139388954 0.00003
NM_000186.4(CFH):c.2868G>A (p.Thr956=) rs533238588 0.00003
NM_000186.4(CFH):c.526T>C (p.Phe176Leu) rs762132970 0.00003
NM_000186.4(CFH):c.647T>C (p.Ile216Thr) rs183474263 0.00003
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys) rs138359497 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn) rs61750564 0.00003
NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971 0.00003
NM_001371596.2(MFSD8):c.652G>A (p.Ala218Thr) rs368614789 0.00003
NM_001710.6(CFB):c.-3G>A rs755016493 0.00003
NM_002775.5(HTRA1):c.820C>T (p.Arg274Trp) rs748074236 0.00003
NM_006017.3(PROM1):c.1450A>G (p.Met484Val) rs574974703 0.00003
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) rs761911901 0.00003
NM_006017.3(PROM1):c.2446G>C (p.Ala816Pro) rs368515078 0.00003
NM_000041.4(APOE):c.688G>A (p.Glu230Lys) rs567353589 0.00002
NM_000064.4(C3):c.1479+13C>G rs368352750 0.00002
NM_000064.4(C3):c.1835C>T (p.Thr612Met) rs201572752 0.00002
NM_000064.4(C3):c.283G>A (p.Glu95Lys) rs746332934 0.00002
NM_000064.4(C3):c.3015G>T (p.Val1005=) rs1340489185 0.00002
NM_000064.4(C3):c.3647-13A>G rs760807491 0.00002
NM_000064.4(C3):c.4484C>T (p.Pro1495Leu) rs368362113 0.00002
NM_000186.4(CFH):c.122C>T (p.Thr41Ile) rs1192717326 0.00002
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter) rs150694809 0.00002
NM_000186.4(CFH):c.2456A>G (p.Asn819Ser) rs781393769 0.00002
NM_000186.4(CFH):c.906C>G (p.Thr302=) rs148552495 0.00002
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) rs55732384 0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000350.3(ABCA4):c.303-3C>T rs777945195 0.00002
NM_001371596.2(MFSD8):c.1107G>C (p.Leu369Phe) rs747197852 0.00002
NM_001371596.2(MFSD8):c.553+20C>T rs542955531 0.00002
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) rs121918399 0.00001
NM_000064.4(C3):c.1047G>C (p.Val349=) rs747191565 0.00001
NM_000064.4(C3):c.1433G>T (p.Arg478Leu) rs747968673 0.00001
NM_000064.4(C3):c.1491G>A (p.Lys497=) rs768360920 0.00001
NM_000064.4(C3):c.1887G>A (p.Pro629=) rs747150559 0.00001
NM_000064.4(C3):c.1999G>A (p.Ala667Thr) rs199535288 0.00001
NM_000064.4(C3):c.2118G>A (p.Ser706=) rs755973774 0.00001
NM_000064.4(C3):c.2583+13G>A rs774609150 0.00001
NM_000064.4(C3):c.3242A>G (p.Tyr1081Cys) rs531259592 0.00001
NM_000064.4(C3):c.3400C>T (p.Arg1134Trp) rs138900723 0.00001
NM_000064.4(C3):c.3401G>A (p.Arg1134Gln) rs777904423 0.00001
NM_000064.4(C3):c.3489+18T>C rs747517809 0.00001
NM_000064.4(C3):c.3546C>T (p.Asn1182=) rs189353964 0.00001
NM_000064.4(C3):c.3593A>G (p.Gln1198Arg) rs372976419 0.00001
NM_000064.4(C3):c.3754G>A (p.Val1252Ile) rs537300095 0.00001
NM_000064.4(C3):c.3757G>A (p.Val1253Met) rs769164285 0.00001
NM_000064.4(C3):c.4155C>T (p.Ile1385=) rs563352895 0.00001
NM_000064.4(C3):c.4348A>C (p.Lys1450Gln) rs191489530 0.00001
NM_000064.4(C3):c.452C>G (p.Thr151Ser) rs1968082456 0.00001
NM_000064.4(C3):c.4631-6C>T rs775109096 0.00001
NM_000064.4(C3):c.4665C>G (p.Ser1555=) rs542668902 0.00001
NM_000064.4(C3):c.899T>C (p.Val300Ala) rs756370451 0.00001
NM_000064.4(C3):c.976G>A (p.Val326Met) rs375264020 0.00001
NM_000186.4(CFH):c.100A>T (p.Thr34Ser) rs1389897706 0.00001
NM_000186.4(CFH):c.1357A>T (p.Ile453Leu) rs1450633243 0.00001
NM_000186.4(CFH):c.1474A>G (p.Ile492Val) rs892717090 0.00001
NM_000186.4(CFH):c.157C>T (p.Arg53Cys) rs757785149 0.00001
NM_000186.4(CFH):c.1612G>C (p.Asp538His) rs778051521 0.00001
NM_000186.4(CFH):c.1697-3A>C rs778174105 0.00001
NM_000186.4(CFH):c.1744C>T (p.Arg582Cys) rs144696019 0.00001
NM_000186.4(CFH):c.2047G>A (p.Val683Met) rs573295841 0.00001
NM_000186.4(CFH):c.2151C>A (p.Phe717Leu) rs763441589 0.00001
NM_000186.4(CFH):c.2236+10C>G rs755790229 0.00001
NM_000186.4(CFH):c.2416G>T (p.Ala806Ser) rs753331225 0.00001
NM_000186.4(CFH):c.2946A>G (p.Pro982=) rs553471643 0.00001
NM_000186.4(CFH):c.3130A>G (p.Arg1044Gly) rs1366929531 0.00001
NM_000186.4(CFH):c.3134-7T>C rs779166622 0.00001
NM_000186.4(CFH):c.3358A>T (p.Ile1120Phe) rs771435716 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000186.4(CFH):c.849A>G (p.Lys283=) rs771886590 0.00001
NM_000186.4(CFH):c.889G>A (p.Gly297Ser) rs764573258 0.00001
NM_000350.3(ABCA4):c.1009T>C (p.Phe337Leu) rs886044724 0.00001
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558 0.00001
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420 0.00001
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys) rs61751398 0.00001
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter) rs61750137 0.00001
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146 0.00001
NM_000350.3(ABCA4):c.4765G>A (p.Val1589Met) rs767980304 0.00001
NM_000350.3(ABCA4):c.5209G>A (p.Val1737Met) rs761017794 0.00001
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861 0.00001
NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val) rs1188515677 0.00001
NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn) rs371489809 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) rs61753038 0.00001
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=) rs61748520 0.00001
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys) rs61748538 0.00001
NM_000350.3(ABCA4):c.6805C>T (p.Arg2269Ter) rs372234578 0.00001
NM_001371596.2(MFSD8):c.103C>T (p.Arg35Ter) rs749315686 0.00001
NM_001371596.2(MFSD8):c.1141G>T (p.Glu381Ter) rs724159970 0.00001
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235 0.00001
NM_001371596.2(MFSD8):c.863C>T (p.Thr288Ile) rs755384900 0.00001
NM_006017.3(PROM1):c.1142-1G>A rs752619497 0.00001
NM_006017.3(PROM1):c.2327A>T (p.Asp776Val) rs1033920857 0.00001
NM_006329.4(FBLN5):c.245A>C (p.Asn82Thr) rs759508064 0.00001
NM_000063.6(C2):c.1567+22_1567+43del rs541057516
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000064.4(C3):c.1402G>A (p.Gly468Arg) rs148820222
NM_000064.4(C3):c.1775G>A (p.Arg592Gln) rs121909583
NM_000064.4(C3):c.1920C>T (p.Ser640=) rs139693406
NM_000064.4(C3):c.2326G>C (p.Glu776Gln) rs2145417819
NM_000064.4(C3):c.373dup (p.Leu125fs) rs1337559480
NM_000064.4(C3):c.453C>T (p.Thr151=) rs148870667
NM_000064.4(C3):c.4547-16C>G rs1414347444
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) rs149202905
NM_000064.4(C3):c.683-4C>G rs377240996
NM_000064.4(C3):c.965A>G (p.Lys322Arg) rs746892541
NM_000064.4(C3):c.975C>T (p.Tyr325=) rs1301665029
NM_000186.4(CFH):c.1511C>T (p.Thr504Met) rs377008918
NM_000186.4(CFH):c.1699A>G (p.Arg567Gly) rs757756991
NM_000186.4(CFH):c.1935G>A (p.Thr645=) rs56035657
NM_000186.4(CFH):c.2054T>C (p.Ile685Thr) rs1431491220
NM_000186.4(CFH):c.2072G>C (p.Cys691Ser) rs2149108610
NM_000186.4(CFH):c.213G>A (p.Trp71Ter) rs1210674261
NM_000186.4(CFH):c.245-10_245-9dup rs35507625
NM_000186.4(CFH):c.245-9del rs35507625
NM_000186.4(CFH):c.245-9dup rs35507625
NM_000186.4(CFH):c.318T>C (p.Tyr106=) rs1448752091
NM_000186.4(CFH):c.350+15C>T rs190197472
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000186.4(CFH):c.497G>A (p.Arg166Gln) rs770339409
NM_000186.4(CFH):c.497G>T (p.Arg166Leu) rs770339409
NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly) rs886044720
NM_000350.3(ABCA4):c.1792G>A (p.Val598Met) rs201838557
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu) rs62654395
NM_000350.3(ABCA4):c.2828G>T (p.Arg943Leu) rs1801581
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn) rs61749451
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del) rs62646872
NM_000350.3(ABCA4):c.5959_5964delinsTG (p.Thr1986_Gly1987insTer) rs1659427600
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro) rs886044758
NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg) rs61753039
NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro) rs2100993895
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_001371596.2(MFSD8):c.1124del (p.Pro375fs) rs1578794927
NM_001371596.2(MFSD8):c.115A>T (p.Ile39Phe) rs201739608
NM_001371596.2(MFSD8):c.1351-9C>T rs75039907
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_021023.6(CFHR3):c.839_840del (p.Ile280fs) rs781400776
NM_021023.6(CFHR3):c.934A>T (p.Ile312Phe) rs73073594
NM_022726.4(ELOVL4):c.504G>C (p.Leu168Phe) rs587777598
NM_031935.3(HMCN1):c.14266+19_14266+22del rs770465309
NM_031935.3(HMCN1):c.14738C>A (p.Thr4913Asn) rs138232561

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