ClinVar Miner

List of variants reported as likely pathogenic for age-related macular degeneration

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 307
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000350.3(ABCA4):c.4253+43G>A rs61754045 0.00486
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
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_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024 0.00299
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00276
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.4771G>A (p.Gly1591Arg) rs113106943 0.00239
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.1928T>G (p.Val643Gly) rs61754024 0.00178
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440 0.00133
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
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.5077G>A (p.Val1693Ile) rs61750563 0.00088
NM_001142800.2(EYS):c.1459+5C>T rs200387978 0.00061
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171 0.00037
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
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.5461-10T>C rs1800728 0.00031
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met) rs61752424 0.00024
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.3386G>T (p.Arg1129Leu) rs1801269 0.00022
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_000350.3(ABCA4):c.5606C>T (p.Pro1869Leu) rs376925793 0.00019
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.5196+1137G>A rs778234759 0.00013
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145 0.00009
NM_000350.3(ABCA4):c.5329A>T (p.Met1777Leu) rs375184282 0.00008
NM_000350.3(ABCA4):c.5460+3G>A rs371777196 0.00008
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg) rs142253670 0.00007
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu) rs61750202 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.4610C>T (p.Thr1537Met) rs62642575 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_000064.4(C3):c.193A>C (p.Lys65Gln) rs539992721 0.00005
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559 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.6449G>A (p.Cys2150Tyr) rs61751384 0.00005
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447 0.00004
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg) rs61749412 0.00004
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp) rs61751395 0.00004
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln) rs554945964 0.00003
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys) rs61748556 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.4793C>A (p.Ala1598Asp) rs61750155 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_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.5819T>C (p.Leu1940Pro) rs61753033 0.00003
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val) rs61748521 0.00003
NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971 0.00003
NM_001371596.2(MFSD8):c.754+2T>A rs587778809 0.00003
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) rs55732384 0.00002
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp) rs61749446 0.00002
NM_000350.3(ABCA4):c.2932G>A (p.Gly978Ser) rs61749452 0.00002
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met) rs201855602 0.00002
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399 0.00002
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402 0.00002
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser) rs777415466 0.00002
NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln) rs767729255 0.00002
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr) rs61748537 0.00002
NM_000350.3(ABCA4):c.885del (p.Leu296fs) rs764759172 0.00002
NM_000041.4(APOE):c.127C>T (p.Arg43Cys) rs121918399 0.00001
NM_000186.4(CFH):c.157C>T (p.Arg53Cys) rs757785149 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr) rs61755803 0.00001
NM_000322.5(PRPH2):c.683C>T (p.Thr228Ile) rs369507460 0.00001
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg) rs61748552 0.00001
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558 0.00001
NM_000350.3(ABCA4):c.1694C>A (p.Pro565His) rs765891059 0.00001
NM_000350.3(ABCA4):c.1761-2A>G rs754765164 0.00001
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398 0.00001
NM_000350.3(ABCA4):c.184C>T (p.Pro62Ser) rs1355238974 0.00001
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter) rs61749414 0.00001
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420 0.00001
NM_000350.3(ABCA4):c.1A>G (p.Met1Val) rs201738997 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.214G>A (p.Gly72Arg) rs61751412 0.00001
NM_000350.3(ABCA4):c.223T>G (p.Cys75Gly) rs61748526 0.00001
NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr) rs61749428 0.00001
NM_000350.3(ABCA4):c.2396C>T (p.Pro799Leu) rs542919944 0.00001
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr) rs374410829 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.2609C>T (p.Pro870Leu) rs746566873 0.00001
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys) rs61749459 0.00001
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His) rs768278935 0.00001
NM_000350.3(ABCA4):c.3523-1G>A rs766239144 0.00001
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu) rs62646860 0.00001
NM_000350.3(ABCA4):c.4326C>A (p.Asn1442Lys) rs762150575 0.00001
NM_000350.3(ABCA4):c.4347G>T (p.Trp1449Cys) rs886044741 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.4462T>C (p.Cys1488Arg) rs61750146 0.00001
NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe) rs61750147 0.00001
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861 0.00001
NM_000350.3(ABCA4):c.4748T>C (p.Leu1583Pro) rs61750153 0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403 0.00001
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017 0.00001
NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser) rs1211325812 0.00001
NM_000350.3(ABCA4):c.5018+2T>C rs61750562 0.00001
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310 0.00001
NM_000350.3(ABCA4):c.5137C>A (p.Gln1713Lys) rs374343397 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.5463G>A (p.Thr1821=) rs367857935 0.00001
NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro) rs377311148 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.6122G>A (p.Gly2041Asp) rs1462350577 0.00001
NM_000350.3(ABCA4):c.6230G>A (p.Arg2077Gln) rs886044759 0.00001
NM_000350.3(ABCA4):c.6282+1G>C rs770453727 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_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235 0.00001
NM_001371596.2(MFSD8):c.670A>T (p.Asn224Tyr) rs1156864297 0.00001
NM_000064.4(C3):c.1775G>A (p.Arg592Gln) rs121909583
NM_000064.4(C3):c.373dup (p.Leu125fs) rs1337559480
NM_000186.4(CFH):c.213G>A (p.Trp71Ter) rs1210674261
NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter) rs1242862941
NM_000322.5(PRPH2):c.318del (p.Leu107fs) rs1761913048
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn) rs61755787
NM_000322.5(PRPH2):c.478C>T (p.Gln160Ter) rs1582780550
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.582-1G>A rs1800118693
NM_000322.5(PRPH2):c.588_589dup (p.Lys197fs) rs1800118385
NM_000322.5(PRPH2):c.642C>A (p.Cys214Ter) rs1388865786
NM_000322.5(PRPH2):c.748T>A (p.Cys250Ser) rs1064793931
NM_000322.5(PRPH2):c.828+2T>C rs1800108496
NM_000350.2(ABCA4):c.[1622T>C;3113C>T]
NM_000350.2(ABCA4):c.[302+68C>T;4539+2028C>T]
NM_000350.2(ABCA4):c.[5381C>A;6148G>C]
NM_000350.2:c.(2918+765_2918+775)_(3328+618_3328+662)del
NM_000350.3(ABCA4):c.1201A>T (p.Thr401Ser) rs559674920
NM_000350.3(ABCA4):c.1248_1554+248del
NM_000350.3(ABCA4):c.1357-2A>G rs886044726
NM_000350.3(ABCA4):c.1508T>C (p.Phe503Ser)
NM_000350.3(ABCA4):c.1555-2A>C rs2101079462
NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly) rs886044720
NM_000350.3(ABCA4):c.1621_1622del (p.Leu541fs) rs1553192715
NM_000350.3(ABCA4):c.1719G>A (p.Met573Ile) rs886044728
NM_000350.3(ABCA4):c.1742C>A (p.Thr581Asn) rs1661175744
NM_000350.3(ABCA4):c.1758C>A (p.Asp586Glu) rs1570393727
NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser) rs61751393
NM_000350.3(ABCA4):c.1820G>T (p.Gly607Val)
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys) rs1557787473
NM_000350.3(ABCA4):c.1891G>A (p.Gly631Arg) rs886044730
NM_000350.3(ABCA4):c.1918C>G (p.Pro640Ala) rs766570903
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu) rs62654395
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu) rs141823837
NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs) rs61749422
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.2294G>A (p.Ser765Asn) rs61749429
NM_000350.3(ABCA4):c.242G>C (p.Cys81Ser) rs1570433137
NM_000350.3(ABCA4):c.2522_2530del (p.Gln841_Met843del)
NM_000350.3(ABCA4):c.2537A>G (p.Asp846Gly) rs779466403
NM_000350.3(ABCA4):c.2680dup (p.Leu894fs) rs1570380080
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp) rs61748529
NM_000350.3(ABCA4):c.2873T>A (p.Ile958Asn) rs754082669
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.3(ABCA4):c.2895T>G (p.Asn965Lys) rs1570377861
NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn) rs61749450
NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala) rs1368508052
NM_000350.3(ABCA4):c.2T>C (p.Met1Thr)
NM_000350.3(ABCA4):c.3016G>C (p.Gly1006Arg) rs1660620409
NM_000350.3(ABCA4):c.3179A>C (p.Gln1060Pro) rs772663974
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs) rs387906385
NM_000350.3(ABCA4):c.3261A>C (p.Glu1087Asp) rs61752416
NM_000350.3(ABCA4):c.3263C>G (p.Pro1088Arg) rs1660531525
NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu) rs61752417
NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu) rs61750121
NM_000350.3(ABCA4):c.3323del (p.Arg1108fs) rs1660527879
NM_000350.3(ABCA4):c.3349A>C (p.Thr1117Pro) rs2101048742
NM_000350.3(ABCA4):c.3377T>C (p.Leu1126Pro) rs1047376
NM_000350.3(ABCA4):c.3380G>A (p.Gly1127Glu) rs1570370929
NM_000350.3(ABCA4):c.3385C>G (p.Arg1129Gly) rs779426136
NM_000350.3(ABCA4):c.3540del (p.Ser1181fs) rs2101047075
NM_000350.3(ABCA4):c.3767_3768dup (p.Leu1257fs) rs1570367144
NM_000350.3(ABCA4):c.3812A>G (p.Glu1271Gly) rs1660360744
NM_000350.3(ABCA4):c.3815T>C (p.Ile1272Thr) rs886044738
NM_000350.3(ABCA4):c.4129-1G>A rs1553189507
NM_000350.3(ABCA4):c.4192G>A (p.Gly1398Ser)
NM_000350.3(ABCA4):c.4222del (p.Trp1408fs) rs1571264574
NM_000350.3(ABCA4):c.4243A>C (p.Thr1415Pro) rs1571264551
NM_000350.3(ABCA4):c.4253+5G>T rs61750138
NM_000350.3(ABCA4):c.428del (p.Pro143fs) rs1662504407
NM_000350.3(ABCA4):c.4313C>A (p.Pro1438Gln)
NM_000350.3(ABCA4):c.4319T>C (p.Phe1440Ser) rs61750141
NM_000350.3(ABCA4):c.4383G>C (p.Trp1461Cys) rs1347261858
NM_000350.3(ABCA4):c.442+2T>A rs1662504014
NM_000350.3(ABCA4):c.443-2A>G
NM_000350.3(ABCA4):c.4463G>A (p.Cys1488Tyr) rs61750147
NM_000350.3(ABCA4):c.452T>C (p.Ile151Thr) rs1012017728
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4539+2064C>T rs1553189179
NM_000350.3(ABCA4):c.4609del (p.Thr1537fs) rs1659998657
NM_000350.3(ABCA4):c.4727T>G (p.Leu1576Arg) rs1553188682
NM_000350.3(ABCA4):c.4854G>C (p.Trp1618Cys) rs61752439
NM_000350.3(ABCA4):c.4958G>A (p.Gly1653Glu) rs1659888526
NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu) rs886044746
NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro) rs61753020
NM_000350.3(ABCA4):c.5088C>G (p.Ser1696Arg) rs1435203678
NM_000350.3(ABCA4):c.5113C>G (p.Arg1705Gly)
NM_000350.3(ABCA4):c.5114G>T (p.Arg1705Leu) rs61753021
NM_000350.3(ABCA4):c.5172G>A (p.Trp1724Ter) rs1557767754
NM_000350.3(ABCA4):c.5196+1056A>G rs886044749
NM_000350.3(ABCA4):c.5196+2T>C rs61751405
NM_000350.3(ABCA4):c.5288T>C (p.Leu1763Pro) rs61753028
NM_000350.3(ABCA4):c.5311G>A (p.Gly1771Arg) rs374015407
NM_000350.3(ABCA4):c.5363C>T (p.Pro1788Leu) rs886044751
NM_000350.3(ABCA4):c.5371dup (p.Ala1791fs)
NM_000350.3(ABCA4):c.5377G>A (p.Val1793Met) rs1659672463
NM_000350.3(ABCA4):c.5453del (p.Asn1818fs) rs2101013633
NM_000350.3(ABCA4):c.5461-6T>C rs1659543067
NM_000350.3(ABCA4):c.5512C>A (p.His1838Asn) rs62642562
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp) rs62642562
NM_000350.3(ABCA4):c.5513A>G (p.His1838Arg) rs886044752
NM_000350.3(ABCA4):c.5516T>C (p.Phe1839Ser) rs1297857869
NM_000350.3(ABCA4):c.5558C>A (p.Ala1853Asp) rs886044753
NM_000350.3(ABCA4):c.5584+6T>C rs61750633
NM_000350.3(ABCA4):c.5656G>A (p.Gly1886Arg) rs886044754
NM_000350.3(ABCA4):c.5690_5704del (p.Gln1897_Phe1901del) rs1659522195
NM_000350.3(ABCA4):c.5691G>T (p.Gln1897His) rs771092150
NM_000350.3(ABCA4):c.5714+1G>T rs1232476760
NM_000350.3(ABCA4):c.5762_5763del (p.Val1921fs) rs1659469884
NM_000350.3(ABCA4):c.5828T>C (p.Leu1943Pro) rs886044755
NM_000350.3(ABCA4):c.5909T>C (p.Leu1970Pro) rs886044756
NM_000350.3(ABCA4):c.5924G>T (p.Gly1975Val) rs1659429594
NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu) rs1064793014
NM_000350.3(ABCA4):c.5936C>T (p.Thr1979Ile) rs61753037
NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg) rs752147871
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.6098T>C (p.Leu2033Pro) rs1553186896
NM_000350.3(ABCA4):c.6098T>G (p.Leu2033Arg) rs1553186896
NM_000350.3(ABCA4):c.6104T>C (p.Leu2035Pro) rs61750642
NM_000350.3(ABCA4):c.6113G>C (p.Arg2038Pro) rs767729255
NM_000350.3(ABCA4):c.6148-698_6670del
NM_000350.3(ABCA4):c.61C>T (p.Gln21Ter) rs770272033
NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val) rs367839100
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.6299G>A (p.Gly2100Glu) rs2100994077
NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His) rs2100994049
NM_000350.3(ABCA4):c.6323_6331delinsGGC (p.Met2108_Asn2111delinsArgHis) rs1659159979
NM_000350.3(ABCA4):c.6326T>C (p.Leu2109Pro) rs886044761
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn) rs1571242070
NM_000350.3(ABCA4):c.6401A>G (p.Glu2134Gly) rs2100993742
NM_000350.3(ABCA4):c.6428T>A (p.Met2143Lys) rs1659153516
NM_000350.3(ABCA4):c.6446G>C (p.Arg2149Pro) rs61750655
NM_000350.3(ABCA4):c.6454G>A (p.Gly2152Ser)
NM_000350.3(ABCA4):c.6454G>T (p.Gly2152Cys) rs1571241947
NM_000350.3(ABCA4):c.6478A>G (p.Lys2160Glu) rs1571241930
NM_000350.3(ABCA4):c.6515A>G (p.Lys2172Arg) rs886044762
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000350.3(ABCA4):c.6698A>T (p.Glu2233Val) rs2100987881
NM_000350.3(ABCA4):c.6713A>G (p.Gln2238Arg) rs886044764
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.6731T>A (p.Val2244Glu) rs1658995249
NM_000350.3(ABCA4):c.676C>A (p.Arg226Ser) rs149780335
NM_000350.3(ABCA4):c.689G>T (p.Cys230Phe)
NM_000350.3(ABCA4):c.758T>A (p.Leu253His) rs2101135424
NM_000350.3(ABCA4):c.86T>G (p.Leu29Arg) rs886044719
NM_000350.3(ABCA4):c.[1610G>A;5603A>T]
NM_000350.3(ABCA4):c.[2588G>C;5603A>T]
NM_000350.3(ABCA4):c.[3322C>T;6320G>A]
NM_000350.3(ABCA4):c.[52C>T;5603A>T]
NM_000350.3(ABCA4):c.[5461-10T>C;5603A>T]
NM_000350.3(ABCA4):c.[5603A>T;5714+5G>A]
NM_000554.6(CRX):c.381dup (p.Ser128fs) rs1599991268
NM_000554.6(CRX):c.827G>A (p.Trp276Ter) rs1599992622
NM_001371596.2(MFSD8):c.1124del (p.Pro375fs) rs1578794927
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_004183.4(BEST1):c.1030C>T (p.Gln344Ter) rs1591303900
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys) rs727503824
NM_014053.4(FLVCR1):c.1557_1561del (p.Asn519fs) rs748989557
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1]) rs746549330
NM_022726.4(ELOVL4):c.810C>G (p.Tyr270Ter) rs104893946
NM_152443.3(RDH12):c.607A>G (p.Ser203Gly) rs2140145566
Single allele

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