ClinVar Miner

List of variants in gene ABCA4 reported as uncertain significance for Retinal dystrophy

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Gene type:
ClinVar version:
Total variants: 215
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04939
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417 0.00491
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.1654G>A (p.Val552Ile) rs145525174 0.00246
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.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_000350.3(ABCA4):c.4128+11C>T rs202102586 0.00148
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.4129-17C>T rs200194007 0.00088
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.4353-4T>C rs375886479 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.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.2383-12G>A rs368548294 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.667A>C (p.Lys223Gln) rs147619585 0.00023
NM_000350.3(ABCA4):c.1155C>T (p.Ile385=) rs376624031 0.00022
NM_000350.3(ABCA4):c.4128+16G>A rs61783968 0.00018
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207 0.00014
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.6340G>A (p.Val2114Met) rs202127235 0.00009
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) rs190540405 0.00009
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.1531C>T (p.Arg511Cys) rs752786160 0.00006
NM_000350.3(ABCA4):c.2576A>G (p.Gln859Arg) rs140281495 0.00006
NM_000350.3(ABCA4):c.302+68C>T rs761188244 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.4519G>A (p.Gly1507Arg) rs568792949 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.764G>A (p.Arg255His) rs148387660 0.00005
NM_000350.3(ABCA4):c.1208A>T (p.Asp403Val) rs913030626 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.2924T>C (p.Ile975Thr) rs146140442 0.00004
NM_000350.3(ABCA4):c.3539C>T (p.Ser1180Leu) rs267598773 0.00004
NM_000350.3(ABCA4):c.5560G>T (p.Val1854Leu) rs374687000 0.00004
NM_000350.3(ABCA4):c.575C>T (p.Ala192Val) rs185729337 0.00004
NM_000350.3(ABCA4):c.847A>G (p.Arg283Gly) rs141802200 0.00004
NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys) rs62642573 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.1615C>G (p.Leu539Val) rs748615703 0.00002
NM_000350.3(ABCA4):c.1745A>G (p.Asn582Ser) rs368362755 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.3291A>G (p.Arg1097=) rs61750118 0.00002
NM_000350.3(ABCA4):c.3449G>A (p.Cys1150Tyr) rs375783686 0.00002
NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr) rs142673376 0.00002
NM_000350.3(ABCA4):c.6496A>G (p.Ile2166Val) rs200658526 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.945G>A (p.Leu315=) rs764002833 0.00002
NM_000350.3(ABCA4):c.1037A>C (p.Lys346Thr) rs61752389 0.00001
NM_000350.3(ABCA4):c.1586A>G (p.Asn529Ser) rs764995626 0.00001
NM_000350.3(ABCA4):c.185C>T (p.Pro62Leu) rs1057520211 0.00001
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr) rs61749437 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.2920T>C (p.Ser974Pro) rs281865400 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.4416G>A (p.Gln1472=) rs780663071 0.00001
NM_000350.3(ABCA4):c.4506C>T (p.Cys1502=) rs61750149 0.00001
NM_000350.3(ABCA4):c.5026A>T (p.Thr1676Ser) rs753489583 0.00001
NM_000350.3(ABCA4):c.5361C>T (p.Val1787=) rs757545714 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.6250G>A (p.Ala2084Thr) rs1250914690 0.00001
NM_000350.3(ABCA4):c.6269C>T (p.Pro2090Leu) rs533271864 0.00001
NM_000350.3(ABCA4):c.6494A>G (p.Tyr2165Cys) rs940867738 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.1034A>G (p.Tyr345Cys) rs1417184535
NM_000350.3(ABCA4):c.1240-8G>A rs185225547
NM_000350.3(ABCA4):c.1351A>C (p.Ile451Leu)
NM_000350.3(ABCA4):c.1460G>A (p.Arg487Gln) rs145614671
NM_000350.3(ABCA4):c.153T>C (p.His51=)
NM_000350.3(ABCA4):c.166T>A (p.Phe56Ile) rs1662606557
NM_000350.3(ABCA4):c.1759A>G (p.Arg587Gly) rs1661175150
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.1862G>C (p.Arg621Thr)
NM_000350.3(ABCA4):c.1937+5G>A rs536864160
NM_000350.3(ABCA4):c.2036A>T (p.Glu679Val) rs1553192420
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.2566T>A (p.Tyr856Asn) rs201223321
NM_000350.3(ABCA4):c.2570T>C (p.Leu857Pro) rs768435443
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.2911A>C (p.Thr971Pro) rs745825311
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.3017G>A (p.Gly1006Asp) rs1660620340
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.3117G>C (p.Gln1039His)
NM_000350.3(ABCA4):c.3119T>C (p.Leu1040Pro)
NM_000350.3(ABCA4):c.3291A>T (p.Arg1097Ser) rs61750118
NM_000350.3(ABCA4):c.3339C>T (p.Ile1113=)
NM_000350.3(ABCA4):c.3378T>C (p.Leu1126=)
NM_000350.3(ABCA4):c.337C>G (p.Leu113Val)
NM_000350.3(ABCA4):c.3383A>G (p.Asp1128Gly) rs1660480861
NM_000350.3(ABCA4):c.3398T>C (p.Ile1133Thr) rs1432207212
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.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.4265C>G (p.Pro1422Arg)
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.4517C>T (p.Ala1506Val)
NM_000350.3(ABCA4):c.4539+2000G>A rs1660073175
NM_000350.3(ABCA4):c.4557G>A (p.Thr1519=)
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=) rs138475920
NM_000350.3(ABCA4):c.4638A>T (p.Leu1546Phe)
NM_000350.3(ABCA4):c.4668-15C>T rs61754054
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.5080C>A (p.Pro1694Thr) rs1659843027
NM_000350.3(ABCA4):c.5172G>T (p.Trp1724Cys) rs1557767754
NM_000350.3(ABCA4):c.5180A>G (p.Asn1727Ser)
NM_000350.3(ABCA4):c.5196+1136C>A rs114147805
NM_000350.3(ABCA4):c.5208C>T (p.Ser1736=)
NM_000350.3(ABCA4):c.5308T>G (p.Tyr1770Asp) rs1195430987
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.5519G>C (p.Cys1840Ser) rs946348819
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.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.5951T>G (p.Met1984Arg) rs1259778135
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.6107A>G (p.Tyr2036Cys) rs878853398
NM_000350.3(ABCA4):c.6110C>T (p.Ala2037Val) rs1659353253
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.6208_6209delinsCA (p.Thr2070Gln) rs1659197672
NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val) rs367839100
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.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.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.6620A>G (p.Gln2207Arg)
NM_000350.3(ABCA4):c.6666C>T (p.Leu2222=)
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.740A>C (p.Asn247Thr)
NM_000350.3(ABCA4):c.791G>A (p.Arg264His) rs567985213
NM_000350.3(ABCA4):c.859-14_859-13del rs1661673887
NM_000350.3(ABCA4):c.911_937del (p.Met304_Phe312del) rs1440228037
NM_000350.3(ABCA4):c.947T>C (p.Met316Thr)

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