ClinVar Miner

List of variants in gene ABCA4 studied for Retinal dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 485
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=) rs1762114 0.78856
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=) rs1801555 0.27862
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359 0.13311
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831 0.09402
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04939
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141 0.03191
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417 0.00491
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) rs61749435 0.00385
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174 0.00246
NM_000350.3(ABCA4):c.1653G>A (p.Val551=) rs61753963 0.00243
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060 0.00189
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=) rs61748519 0.00185
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024 0.00178
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) rs61752395 0.00176
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549 0.00160
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_000350.3(ABCA4):c.4128+11C>T rs202102586 0.00148
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_000350.3(ABCA4):c.3328+18G>A rs187354107 0.00129
NM_000350.3(ABCA4):c.4539+2084C>T rs371968492 0.00123
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=) rs145483148 0.00120
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919 0.00100
NM_000350.3(ABCA4):c.4467G>T (p.Arg1489Ser) rs140952412 0.00098
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454 0.00089
NM_000350.3(ABCA4):c.4129-17C>T rs200194007 0.00088
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563 0.00088
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=) rs117400594 0.00078
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019 0.00076
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys) rs75267647 0.00066
NM_000350.3(ABCA4):c.981C>T (p.Pro327=) rs61753057 0.00054
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_000350.3(ABCA4):c.4353-4T>C rs375886479 0.00039
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg) rs61748545 0.00039
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171 0.00037
NM_000350.3(ABCA4):c.4352+15G>A rs139611589 0.00036
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000350.3(ABCA4):c.5992G>A (p.Val1998Ile) rs147870733 0.00036
NM_000350.3(ABCA4):c.1969A>G (p.Ile657Val) rs199590367 0.00034
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_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys) rs61750648 0.00034
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys) rs200692438 0.00033
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser) rs61748532 0.00033
NM_000350.3(ABCA4):c.2383-12G>A rs368548294 0.00031
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000350.3(ABCA4):c.2486C>T (p.Thr829Met) rs139250920 0.00029
NM_000350.3(ABCA4):c.294C>G (p.Asn98Lys) rs145133167 0.00028
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146 0.00024
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000350.3(ABCA4):c.667A>C (p.Lys223Gln) rs147619585 0.00023
NM_000350.3(ABCA4):c.1155C>T (p.Ile385=) rs376624031 0.00022
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) rs1801269 0.00022
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_000350.3(ABCA4):c.4128+16G>A rs61783968 0.00018
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152 0.00016
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=) rs201602424 0.00014
NM_000350.3(ABCA4):c.3363C>T (p.Asp1121=) rs146117512 0.00014
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207 0.00014
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759 0.00013
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys) rs138157885 0.00011
NM_000350.3(ABCA4):c.3329-11C>T rs367580653 0.00011
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701 0.00010
NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala) rs779585931 0.00010
NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser) rs149071415 0.00009
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145 0.00009
NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met) rs202127235 0.00009
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) rs190540405 0.00009
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_000350.3(ABCA4):c.673G>A (p.Val225Met) rs540124349 0.00008
NM_000350.3(ABCA4):c.1459C>T (p.Arg487Trp) rs369286283 0.00007
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) rs201471607 0.00007
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys) rs752786160 0.00006
NM_000350.3(ABCA4):c.1818C>T (p.Gly606=) rs377164833 0.00006
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu) rs61750202 0.00006
NM_000350.3(ABCA4):c.2576A>G (p.Gln859Arg) rs140281495 0.00006
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=) rs180921875 0.00006
NM_000350.3(ABCA4):c.302+1G>A rs61751413 0.00006
NM_000350.3(ABCA4):c.302+68C>T rs761188244 0.00006
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys) rs756840095 0.00006
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 0.00006
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574 0.00006
NM_000350.3(ABCA4):c.71G>A (p.Arg24His) rs62645958 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_000350.3(ABCA4):c.1251T>C (p.Thr417=) rs374336459 0.00005
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559 0.00005
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn) rs145265791 0.00005
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg) rs568792949 0.00005
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp) rs121909205 0.00005
NM_000350.3(ABCA4):c.570+1798A>G rs888731641 0.00005
NM_000350.3(ABCA4):c.6282+9G>A rs758705900 0.00005
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr) rs61751384 0.00005
NM_000350.3(ABCA4):c.764G>A (p.Arg255His) rs148387660 0.00005
NM_000350.3(ABCA4):c.1208A>T (p.Asp403Val) rs913030626 0.00004
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter) rs61748550 0.00004
NM_000350.3(ABCA4):c.156T>G (p.His52Gln) rs557725292 0.00004
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met) rs74516571 0.00004
NM_000350.3(ABCA4):c.1729G>A (p.Val577Met) rs547063913 0.00004
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg) rs61749412 0.00004
NM_000350.3(ABCA4):c.1958G>A (p.Arg653His) rs141823837 0.00004
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp) rs61751395 0.00004
NM_000350.3(ABCA4):c.2924T>C (p.Ile975Thr) rs146140442 0.00004
NM_000350.3(ABCA4):c.3539C>T (p.Ser1180Leu) rs267598773 0.00004
NM_000350.3(ABCA4):c.4169T>C (p.Leu1390Pro) rs61752430 0.00004
NM_000350.3(ABCA4):c.4539+2028C>T rs869320785 0.00004
NM_000350.3(ABCA4):c.5560G>T (p.Val1854Leu) rs374687000 0.00004
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=) rs191506332 0.00004
NM_000350.3(ABCA4):c.575C>T (p.Ala192Val) rs185729337 0.00004
NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp) rs61750643 0.00004
NM_000350.3(ABCA4):c.6319C>T (p.Arg2107Cys) rs2297669 0.00004
NM_000350.3(ABCA4):c.847A>G (p.Arg283Gly) rs141802200 0.00004
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys) rs61748556 0.00003
NM_000350.3(ABCA4):c.3323G>A (p.Arg1108His) rs61750121 0.00003
NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys) rs62642573 0.00003
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142 0.00003
NM_000350.3(ABCA4):c.4539+2001G>A rs1457937638 0.00003
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406 0.00003
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp) rs61753029 0.00003
NM_000350.3(ABCA4):c.5791G>A (p.Gly1931Ser) rs757462382 0.00003
NM_000350.3(ABCA4):c.5824G>C (p.Glu1942Gln) rs760353830 0.00003
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val) rs61748521 0.00003
NM_000350.3(ABCA4):c.6806G>A (p.Arg2269Gln) rs202223056 0.00003
NM_000350.3(ABCA4):c.1007C>G (p.Ser336Cys) rs61748547 0.00002
NM_000350.3(ABCA4):c.1615C>G (p.Leu539Val) rs748615703 0.00002
NM_000350.3(ABCA4):c.1745A>G (p.Asn582Ser) rs368362755 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.1906C>T (p.Gln636Ter) rs145961131 0.00002
NM_000350.3(ABCA4):c.2126C>T (p.Ser709Leu) rs374152623 0.00002
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp) rs61749446 0.00002
NM_000350.3(ABCA4):c.2862C>T (p.Tyr954=) rs757870374 0.00002
NM_000350.3(ABCA4):c.3050+5G>A rs61751262 0.00002
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met) rs201855602 0.00002
NM_000350.3(ABCA4):c.3291A>G (p.Arg1097=) rs61750118 0.00002
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399 0.00002
NM_000350.3(ABCA4):c.3449G>A (p.Cys1150Tyr) rs375783686 0.00002
NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter) rs61752427 0.00002
NM_000350.3(ABCA4):c.3972G>A (p.Ala1324=) rs200965081 0.00002
NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr) rs142673376 0.00002
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402 0.00002
NM_000350.3(ABCA4):c.6496A>G (p.Ile2166Val) rs200658526 0.00002
NM_000350.3(ABCA4):c.6528C>T (p.Asp2176=) rs767917933 0.00002
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr) rs61748537 0.00002
NM_000350.3(ABCA4):c.6579C>T (p.Phe2193=) rs763108716 0.00002
NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys) rs62645952 0.00002
NM_000350.3(ABCA4):c.885del (p.Leu296fs) rs764759172 0.00002
NM_000350.3(ABCA4):c.945G>A (p.Leu315=) rs764002833 0.00002
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420 0.00001
NM_000350.3(ABCA4):c.1037A>C (p.Lys346Thr) rs61752389 0.00001
NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser) rs794726979 0.00001
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg) rs61748552 0.00001
NM_000350.3(ABCA4):c.1586A>G (p.Asn529Ser) rs764995626 0.00001
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558 0.00001
NM_000350.3(ABCA4):c.1726G>C (p.Asp576His) rs374224955 0.00001
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398 0.00001
NM_000350.3(ABCA4):c.185C>T (p.Pro62Leu) rs1057520211 0.00001
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420 0.00001
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile) rs575453437 0.00001
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) rs62654397 0.00001
NM_000350.3(ABCA4):c.2160+1G>T rs61749427 0.00001
NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr) rs61749428 0.00001
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr) rs374410829 0.00001
NM_000350.3(ABCA4):c.2461T>A (p.Trp821Arg) rs61749433 0.00001
NM_000350.3(ABCA4):c.247_250dup (p.Ser84fs) rs1005271380 0.00001
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr) rs61749437 0.00001
NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter) rs61752406 0.00001
NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu) rs746566873 0.00001
NM_000350.3(ABCA4):c.2654-6G>A rs759220318 0.00001
NM_000350.3(ABCA4):c.2654-8T>G rs765263670 0.00001
NM_000350.3(ABCA4):c.2712G>A (p.Thr904=) rs546067089 0.00001
NM_000350.3(ABCA4):c.2841C>T (p.Asp947=) rs200551567 0.00001
NM_000350.3(ABCA4):c.2870A>G (p.Gln957Arg) rs61749448 0.00001
NM_000350.3(ABCA4):c.2920T>C (p.Ser974Pro) rs281865400 0.00001
NM_000350.3(ABCA4):c.298T>C (p.Ser100Pro) rs61748530 0.00001
NM_000350.3(ABCA4):c.3059T>A (p.Val1020Glu) rs112300381 0.00001
NM_000350.3(ABCA4):c.3164G>A (p.Arg1055Gln) rs187071406 0.00001
NM_000350.3(ABCA4):c.3194G>A (p.Gly1065Asp) rs886039300 0.00001
NM_000350.3(ABCA4):c.319C>T (p.Arg107Ter) rs765429911 0.00001
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys) rs61751398 0.00001
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro) rs62645946 0.00001
NM_000350.3(ABCA4):c.3329-1G>A rs544428779 0.00001
NM_000350.3(ABCA4):c.3413T>C (p.Leu1138Pro) rs1287053724 0.00001
NM_000350.3(ABCA4):c.3523-2A>G rs1168144507 0.00001
NM_000350.3(ABCA4):c.3994C>T (p.Gln1332Ter) rs61752428 0.00001
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135 0.00001
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter) rs61750137 0.00001
NM_000350.3(ABCA4):c.4253+4C>T rs61754044 0.00001
NM_000350.3(ABCA4):c.4253+5G>A rs61750138 0.00001
NM_000350.3(ABCA4):c.4312C>G (p.Pro1438Ala) rs1046550021 0.00001
NM_000350.3(ABCA4):c.4326C>A (p.Asn1442Lys) rs762150575 0.00001
NM_000350.3(ABCA4):c.4352+1G>A rs200967229 0.00001
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368 0.00001
NM_000350.3(ABCA4):c.4416G>A (p.Gln1472=) rs780663071 0.00001
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146 0.00001
NM_000350.3(ABCA4):c.4506C>T (p.Cys1502=) rs61750149 0.00001
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861 0.00001
NM_000350.3(ABCA4):c.4667G>C (p.Arg1556Thr) rs1385119665 0.00001
NM_000350.3(ABCA4):c.5026A>T (p.Thr1676Ser) rs753489583 0.00001
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310 0.00001
NM_000350.3(ABCA4):c.5186T>C (p.Leu1729Pro) rs61750567 0.00001
NM_000350.3(ABCA4):c.5196+1G>A rs61751377 0.00001
NM_000350.3(ABCA4):c.5312+1G>A rs886044750 0.00001
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter) rs61750571 0.00001
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861 0.00001
NM_000350.3(ABCA4):c.5337C>G (p.Tyr1779Ter) rs61750573 0.00001
NM_000350.3(ABCA4):c.5361C>T (p.Val1787=) rs757545714 0.00001
NM_000350.3(ABCA4):c.5460+1G>T rs61753030 0.00001
NM_000350.3(ABCA4):c.5501T>C (p.Ile1834Thr) rs748355733 0.00001
NM_000350.3(ABCA4):c.5593C>T (p.His1865Tyr) rs201707267 0.00001
NM_000350.3(ABCA4):c.564del (p.Glu189fs) rs886044148 0.00001
NM_000350.3(ABCA4):c.5657G>A (p.Gly1886Glu) rs62642579 0.00001
NM_000350.3(ABCA4):c.5773A>G (p.Arg1925Gly) rs757449019 0.00001
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser) rs61750639 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.6250G>A (p.Ala2084Thr) rs1250914690 0.00001
NM_000350.3(ABCA4):c.6269C>T (p.Pro2090Leu) rs533271864 0.00001
NM_000350.3(ABCA4):c.6270G>A (p.Pro2090=) rs755217474 0.00001
NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His) rs1057520213 0.00001
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=) rs61748520 0.00001
NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys) rs61750652 0.00001
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654 0.00001
NM_000350.3(ABCA4):c.6494A>G (p.Tyr2165Cys) rs940867738 0.00001
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys) rs61748538 0.00001
NM_000350.3(ABCA4):c.6686T>C (p.Leu2229Pro) rs61750659 0.00001
NM_000350.3(ABCA4):c.733T>C (p.Tyr245His) rs201136017 0.00001
NM_000350.3(ABCA4):c.769-3C>T rs368010652 0.00001
NM_000350.3(ABCA4):c.790C>T (p.Arg264Cys) rs767947718 0.00001
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp) rs781716640 0.00001
NM_000350.3(ABCA4):c.1016G>A (p.Trp339Ter) rs1661663692
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs) rs63749083
NM_000350.3(ABCA4):c.1034A>G (p.Tyr345Cys) rs1417184535
NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter) rs61752390
NM_000350.3(ABCA4):c.108del (p.Leu37fs) rs62642569
NM_000350.3(ABCA4):c.1192dup (p.Ile398fs) rs1661625047
NM_000350.3(ABCA4):c.1240-8G>A rs185225547
NM_000350.3(ABCA4):c.1247C>G (p.Ser416Ter)
NM_000350.3(ABCA4):c.1302del (p.Gln437fs) rs1448468321
NM_000350.3(ABCA4):c.1317G>A (p.Trp439Ter) rs61752391
NM_000350.3(ABCA4):c.1351A>C (p.Ile451Leu)
NM_000350.3(ABCA4):c.1460G>A (p.Arg487Gln) rs145614671
NM_000350.3(ABCA4):c.1496G>A (p.Trp499Ter) rs1661575232
NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter) rs1553193813
NM_000350.3(ABCA4):c.1529T>G (p.Leu510Arg) rs886039299
NM_000350.3(ABCA4):c.153T>C (p.His51=)
NM_000350.3(ABCA4):c.1557C>A (p.Cys519Ter) rs1553192726
NM_000350.3(ABCA4):c.160+2T>A rs886044721
NM_000350.3(ABCA4):c.166T>A (p.Phe56Ile) rs1662606557
NM_000350.3(ABCA4):c.1715G>C (p.Arg572Pro) rs61748559
NM_000350.3(ABCA4):c.1759A>G (p.Arg587Gly) rs1661175150
NM_000350.3(ABCA4):c.1760+2T>G rs61751385
NM_000350.3(ABCA4):c.1761G>T (p.Arg587Ser) rs1661166945
NM_000350.3(ABCA4):c.1807T>C (p.Tyr603His) rs1064793006
NM_000350.3(ABCA4):c.1811T>G (p.Ile604Ser) rs61749411
NM_000350.3(ABCA4):c.1851_1860del (p.Ile619fs) rs1661162346
NM_000350.3(ABCA4):c.1852G>A (p.Gly618Arg) rs1661163134
NM_000350.3(ABCA4):c.1862G>C (p.Arg621Thr)
NM_000350.3(ABCA4):c.1873C>T (p.Gln625Ter) rs878853396
NM_000350.3(ABCA4):c.1903C>A (p.Gln635Lys) rs61749414
NM_000350.3(ABCA4):c.1917C>A (p.Tyr639Ter) rs61749415
NM_000350.3(ABCA4):c.1919C>T (p.Pro640Leu) rs760790294
NM_000350.3(ABCA4):c.1933G>A (p.Asp645Asn) rs61749418
NM_000350.3(ABCA4):c.1937+5G>A rs536864160
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu) rs62654395
NM_000350.3(ABCA4):c.1984dup (p.Ala662fs) rs1553192432
NM_000350.3(ABCA4):c.1995C>A (p.Tyr665Ter) rs757302286
NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs) rs61749422
NM_000350.3(ABCA4):c.2036A>T (p.Glu679Val) rs1553192420
NM_000350.3(ABCA4):c.203C>G (p.Pro68Arg) rs62654397
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.2099G>A (p.Trp700Ter) rs61749425
NM_000350.3(ABCA4):c.2123T>A (p.Met708Lys)
NM_000350.3(ABCA4):c.2148G>A (p.Thr716=)
NM_000350.3(ABCA4):c.2154C>T (p.Phe718=)
NM_000350.3(ABCA4):c.2243G>A (p.Cys748Tyr) rs1660994342
NM_000350.3(ABCA4):c.2252T>C (p.Leu751Pro) rs1660994125
NM_000350.3(ABCA4):c.2331C>A (p.Ile777=)
NM_000350.3(ABCA4):c.2397G>A (p.Pro799=) rs778503467
NM_000350.3(ABCA4):c.2407G>A (p.Gly803Arg) rs1660945050
NM_000350.3(ABCA4):c.2464A>G (p.Ser822Gly)
NM_000350.3(ABCA4):c.2537A>T (p.Asp846Val) rs779466403
NM_000350.3(ABCA4):c.2566T>A (p.Tyr856Asn) rs201223321
NM_000350.3(ABCA4):c.2570T>C (p.Leu857Pro) rs768435443
NM_000350.3(ABCA4):c.2626C>T (p.Gln876Ter) rs1660843703
NM_000350.3(ABCA4):c.2713del (p.Glu905fs) rs869312184
NM_000350.3(ABCA4):c.2759G>A (p.Arg920His) rs376526710
NM_000350.3(ABCA4):c.2782G>T (p.Gly928Trp) rs398123337
NM_000350.3(ABCA4):c.2791G>T (p.Val931Leu) rs58331765
NM_000350.3(ABCA4):c.284C>T (p.Ser95Leu)
NM_000350.3(ABCA4):c.2857_2877del (p.Phe953_Thr959del)
NM_000350.3(ABCA4):c.2869C>A (p.Gln957Lys) rs398123338
NM_000350.3(ABCA4):c.2889C>T (p.Gly963=) rs1660700628
NM_000350.3(ABCA4):c.2893A>G (p.Asn965Asp) rs61749449
NM_000350.3(ABCA4):c.2895T>G (p.Asn965Lys) rs1570377861
NM_000350.3(ABCA4):c.2911A>C (p.Thr971Pro) rs745825311
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn) rs61749451
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.3(ABCA4):c.2954G>T (p.Gly985Val) rs1660624360
NM_000350.3(ABCA4):c.2980_2987del (p.Ile994fs) rs1306732480
NM_000350.3(ABCA4):c.3017G>A (p.Gly1006Asp) rs1660620340
NM_000350.3(ABCA4):c.302+4A>C rs1662599697
NM_000350.3(ABCA4):c.302+6T>G rs1662599652
NM_000350.3(ABCA4):c.3022T>C (p.Cys1008Arg) rs1660620146
NM_000350.3(ABCA4):c.3051-19C>A rs375804885
NM_000350.3(ABCA4):c.3051-19C>G rs375804885
NM_000350.3(ABCA4):c.3098del (p.Lys1033fs) rs878853397
NM_000350.3(ABCA4):c.3117G>C (p.Gln1039His)
NM_000350.3(ABCA4):c.3119T>C (p.Leu1040Pro)
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs) rs387906385
NM_000350.3(ABCA4):c.3235_3236del (p.Asp1079fs) rs1660532299
NM_000350.3(ABCA4):c.3261A>C (p.Glu1087Asp) rs61752416
NM_000350.3(ABCA4):c.3279C>A (p.Asp1093Glu) rs1237125868
NM_000350.3(ABCA4):c.3287C>T (p.Ser1096Leu) rs763267492
NM_000350.3(ABCA4):c.3291A>T (p.Arg1097Ser) rs61750118
NM_000350.3(ABCA4):c.3299T>A (p.Ile1100Asn) rs1553190559
NM_000350.3(ABCA4):c.3302G>A (p.Trp1101Ter) rs373868915
NM_000350.3(ABCA4):c.3303G>A (p.Trp1101Ter) rs61752419
NM_000350.3(ABCA4):c.3339C>T (p.Ile1113=)
NM_000350.3(ABCA4):c.3378T>C (p.Leu1126=)
NM_000350.3(ABCA4):c.3379G>A (p.Gly1127Arg) rs1660481072
NM_000350.3(ABCA4):c.337C>G (p.Leu113Val)
NM_000350.3(ABCA4):c.3383A>G (p.Asp1128Gly) rs1660480861
NM_000350.3(ABCA4):c.3386G>A (p.Arg1129His) rs1801269
NM_000350.3(ABCA4):c.3398T>C (p.Ile1133Thr) rs1432207212
NM_000350.3(ABCA4):c.3407G>A (p.Gly1136Glu) rs1660480045
NM_000350.3(ABCA4):c.341T>C (p.Met114Thr)
NM_000350.3(ABCA4):c.3422C>T (p.Ser1141Leu)
NM_000350.3(ABCA4):c.3523-6T>C rs1660449701
NM_000350.3(ABCA4):c.3528C>T (p.Thr1176=)
NM_000350.3(ABCA4):c.3607+1G>A rs61752421
NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg) rs1064793011
NM_000350.3(ABCA4):c.3977C>G (p.Ala1326Gly) rs761989194
NM_000350.3(ABCA4):c.4034A>G (p.Asn1345Ser)
NM_000350.3(ABCA4):c.4070C>G (p.Ala1357Gly)
NM_000350.3(ABCA4):c.4079T>C (p.Val1360Ala)
NM_000350.3(ABCA4):c.4128+8T>C rs1660211252
NM_000350.3(ABCA4):c.4129A>G (p.Ile1377Val) rs1327707460
NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.4253+5G>T rs61750138
NM_000350.3(ABCA4):c.4254-1G>A rs886044740
NM_000350.3(ABCA4):c.4265C>G (p.Pro1422Arg)
NM_000350.3(ABCA4):c.4309A>T (p.Lys1437Ter) rs1283350532
NM_000350.3(ABCA4):c.4340_4343del (p.Glu1447fs) rs1660166963
NM_000350.3(ABCA4):c.4352+5G>T rs1660166597
NM_000350.3(ABCA4):c.4426A>G (p.Lys1476Glu)
NM_000350.3(ABCA4):c.443-5_443-2del
NM_000350.3(ABCA4):c.4468T>G (p.Cys1490Gly) rs61750148
NM_000350.3(ABCA4):c.4505G>T (p.Cys1502Phe) rs1660137001
NM_000350.3(ABCA4):c.4517C>T (p.Ala1506Val)
NM_000350.3(ABCA4):c.4537del (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4539+2000G>A rs1660073175
NM_000350.3(ABCA4):c.4540-2A>G rs61752435
NM_000350.3(ABCA4):c.4557G>A (p.Thr1519=)
NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter) rs62645957
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=) rs138475920
NM_000350.3(ABCA4):c.462G>A (p.Arg154=) rs1253706083
NM_000350.3(ABCA4):c.4634+1del rs1659997092
NM_000350.3(ABCA4):c.4638A>T (p.Leu1546Phe)
NM_000350.3(ABCA4):c.4654dup (p.Val1552fs) rs1659953619
NM_000350.3(ABCA4):c.4667+1G>A rs751319688
NM_000350.3(ABCA4):c.4668-15C>T rs61754054
NM_000350.3(ABCA4):c.4668-2A>G rs1659914923
NM_000350.3(ABCA4):c.4672G>A (p.Gly1558Arg) rs1659914711
NM_000350.3(ABCA4):c.488T>G (p.Leu163Arg) rs1662328590
NM_000350.3(ABCA4):c.5026A>C (p.Thr1676Pro) rs753489583
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del) rs62646872
NM_000350.3(ABCA4):c.5059A>T (p.Ile1687Phe) rs201996979
NM_000350.3(ABCA4):c.5080C>A (p.Pro1694Thr) rs1659843027
NM_000350.3(ABCA4):c.5137_5138delinsAG (p.Gln1713Arg) rs1659840790
NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs) rs61750566
NM_000350.3(ABCA4):c.5172G>T (p.Trp1724Cys) rs1557767754
NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs) rs1057518955
NM_000350.3(ABCA4):c.5180A>G (p.Asn1727Ser)
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter) rs886044747
NM_000350.3(ABCA4):c.5196+1056A>G rs886044749
NM_000350.3(ABCA4):c.5196+1136C>A rs114147805
NM_000350.3(ABCA4):c.5196+2T>C rs61751405
NM_000350.3(ABCA4):c.5203del (p.Tyr1735fs) rs1659721337
NM_000350.3(ABCA4):c.5208C>T (p.Ser1736=)
NM_000350.3(ABCA4):c.5222_5232del (p.Leu1741fs) rs61750569
NM_000350.3(ABCA4):c.5282C>G (p.Pro1761Arg) rs1057520212
NM_000350.3(ABCA4):c.5289del (p.Val1764fs) rs1553188071
NM_000350.3(ABCA4):c.5308T>G (p.Tyr1770Asp) rs1195430987
NM_000350.3(ABCA4):c.5313-2A>G rs759513613
NM_000350.3(ABCA4):c.5315G>A (p.Trp1772Ter) rs776757706
NM_000350.3(ABCA4):c.5395A>G (p.Asn1799Asp) rs61750574
NM_000350.3(ABCA4):c.53G>C (p.Arg18Pro) rs868543294
NM_000350.3(ABCA4):c.5400_5401del (p.Phe1801fs)
NM_000350.3(ABCA4):c.5418C>A (p.Ser1806Arg) rs1659670972
NM_000350.3(ABCA4):c.5423C>G (p.Ala1808Gly)
NM_000350.3(ABCA4):c.5512C>T (p.His1838Tyr) rs62642562
NM_000350.3(ABCA4):c.5519G>C (p.Cys1840Ser) rs946348819
NM_000350.3(ABCA4):c.5575G>A (p.Ala1859Thr)
NM_000350.3(ABCA4):c.5580del (p.Phe1861fs) rs1659538743
NM_000350.3(ABCA4):c.5584G>A (p.Gly1862Ser) rs1659538637
NM_000350.3(ABCA4):c.5611C>T (p.His1871Tyr)
NM_000350.3(ABCA4):c.5653G>A (p.Glu1885Lys) rs62642563
NM_000350.3(ABCA4):c.570+2T>G
NM_000350.3(ABCA4):c.5714+19C>A rs1659521212
NM_000350.3(ABCA4):c.5719_5720delinsTT (p.Ala1907Phe) rs1659472146
NM_000350.3(ABCA4):c.5754T>C (p.Asp1918=)
NM_000350.3(ABCA4):c.5822A>C (p.His1941Pro) rs1161119501
NM_000350.3(ABCA4):c.583G>A (p.Val195Ile)
NM_000350.3(ABCA4):c.583G>C (p.Val195Leu) rs1206857720
NM_000350.3(ABCA4):c.5846del (p.Gly1949fs) rs1659452428
NM_000350.3(ABCA4):c.5887C>A (p.Arg1963Ser)
NM_000350.3(ABCA4):c.5898+1G>A rs61750638
NM_000350.3(ABCA4):c.5899-2del rs1553187162
NM_000350.3(ABCA4):c.5915del (p.Gly1972fs) rs1659430143
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389
NM_000350.3(ABCA4):c.5929G>C (p.Gly1977Arg) rs61750639
NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu) rs1064793014
NM_000350.3(ABCA4):c.5935A>G (p.Thr1979Ala) rs1571247308
NM_000350.3(ABCA4):c.5951T>G (p.Met1984Arg) rs1259778135
NM_000350.3(ABCA4):c.6005+1G>A rs61748517
NM_000350.3(ABCA4):c.6005+1G>T rs61748517
NM_000350.3(ABCA4):c.6091G>A (p.Glu2031Lys) rs1659353934
NM_000350.3(ABCA4):c.6094C>T (p.His2032Tyr) rs183398940
NM_000350.3(ABCA4):c.6095A>G (p.His2032Arg) rs1242866408
NM_000350.3(ABCA4):c.6098T>G (p.Leu2033Arg) rs1553186896
NM_000350.3(ABCA4):c.6107A>G (p.Tyr2036Cys) rs878853398
NM_000350.3(ABCA4):c.6110C>T (p.Ala2037Val) rs1659353253
NM_000350.3(ABCA4):c.6166A>T (p.Lys2056Ter) rs61750644
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.6191C>T (p.Ala2064Val) rs1362964563
NM_000350.3(ABCA4):c.6208_6209delinsCA (p.Thr2070Gln) rs1659197672
NM_000350.3(ABCA4):c.6213C>G (p.Tyr2071Ter) rs62642580
NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val) rs367839100
NM_000350.3(ABCA4):c.6229C>G (p.Arg2077Gly) rs61750645
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382
NM_000350.3(ABCA4):c.6249C>G (p.Ile2083Met)
NM_000350.3(ABCA4):c.6252A>C (p.Ala2084=)
NM_000350.3(ABCA4):c.6257T>G (p.Ile2086Ser)
NM_000350.3(ABCA4):c.6285_6286inv (p.Glu2096Lys)
NM_000350.3(ABCA4):c.629T>A (p.Leu210Gln) rs1246844424
NM_000350.3(ABCA4):c.6305A>C (p.Asp2102Ala)
NM_000350.3(ABCA4):c.6380C>T (p.Ser2127Phe) rs1303289867
NM_000350.3(ABCA4):c.6386+1G>A rs745654673
NM_000350.3(ABCA4):c.6453G>T (p.Met2151Ile) rs1057518954
NM_000350.3(ABCA4):c.6455G>T (p.Gly2152Val) rs1659152504
NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=) rs61751379
NM_000350.3(ABCA4):c.6510dup (p.Ile2171fs) rs1659061509
NM_000350.3(ABCA4):c.655A>T (p.Arg219Ter) rs757557272
NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter) rs61753045
NM_000350.3(ABCA4):c.6620A>G (p.Gln2207Arg)
NM_000350.3(ABCA4):c.6666C>T (p.Leu2222=)
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs) rs63749055
NM_000350.3(ABCA4):c.67-2A>G rs398123339
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.676C>T (p.Arg226Cys) rs149780335
NM_000350.3(ABCA4):c.6772C>G (p.Leu2258Val)
NM_000350.3(ABCA4):c.6772C>T (p.Leu2258Phe)
NM_000350.3(ABCA4):c.6817-2A>G rs1658918693
NM_000350.3(ABCA4):c.712C>T (p.Gln238Ter) rs1356104318
NM_000350.3(ABCA4):c.731T>C (p.Leu244Pro) rs62646864
NM_000350.3(ABCA4):c.740A>C (p.Asn247Thr)
NM_000350.3(ABCA4):c.791G>A (p.Arg264His) rs567985213
NM_000350.3(ABCA4):c.834del (p.Asp279fs) rs779743222
NM_000350.3(ABCA4):c.853C>T (p.Gln285Ter) rs886041951
NM_000350.3(ABCA4):c.859-14_859-13del rs1661673887
NM_000350.3(ABCA4):c.859-9T>C rs529598960
NM_000350.3(ABCA4):c.911_937del (p.Met304_Phe312del) rs1440228037
NM_000350.3(ABCA4):c.913C>T (p.Gln305Ter) rs1661669685
NM_000350.3(ABCA4):c.93G>A (p.Trp31Ter) rs1191816747
NM_000350.3(ABCA4):c.947T>C (p.Met316Thr)
NM_000350.3(ABCA4):c.982G>T (p.Glu328Ter) rs61751418

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