ClinVar Miner

List of variants in gene ABCA4 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 205
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HGVS dbSNP
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.3210_3211insGT (p.Ser1071Valfs) rs61750064
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.2(ABCA4):c.[1622T>C;3113C>T]
NM_000350.2(ABCA4):c.[1A>G;6089G>A]
NM_000350.2(ABCA4):c.[2588G>C;3289A>T]
NM_000350.2(ABCA4):c.[2588G>C;5153T>G]
NM_000350.2(ABCA4):c.[2588G>C];[5882G>A]
NM_000350.2(ABCA4):c.[5512C>G;5882G>A]
NM_000350.2:c.(6816+1_6817-1)_(*1_?)del
NM_000350.3(ABCA4):c.1018T>G (p.Tyr340Asp) rs61748548
NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter) rs61752390
NM_000350.3(ABCA4):c.1100-2A>T rs886042034
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter) rs61748550
NM_000350.3(ABCA4):c.1225del (p.Arg409fs) rs387906387
NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter) rs61751410
NM_000350.3(ABCA4):c.1239+1G>C rs765707028
NM_000350.3(ABCA4):c.123G>A (p.Trp41Ter) rs748357067
NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser) rs794726979
NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter) rs886044725
NM_000350.3(ABCA4):c.1317G>A (p.Trp439Ter) rs61752391
NM_000350.3(ABCA4):c.1357-2A>G rs886044726
NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter) rs1553193813
NM_000350.3(ABCA4):c.1557C>A (p.Cys519Ter) rs1553192726
NM_000350.3(ABCA4):c.1584C>A (p.Tyr528Ter) rs886044727
NM_000350.3(ABCA4):c.160+2T>C rs886044721
NM_000350.3(ABCA4):c.1615_1616CT[3] (p.Leu541fs) rs1553192715
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447
NM_000350.3(ABCA4):c.161G>T (p.Cys54Phe) rs150774447
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558
NM_000350.3(ABCA4):c.1714C>T (p.Arg572Ter) rs1557787756
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559
NM_000350.3(ABCA4):c.1760+2T>G rs61751385
NM_000350.3(ABCA4):c.1765del (p.Trp589fs) rs1557787559
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) rs55732384
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409
NM_000350.3(ABCA4):c.1819G>C (p.Gly607Arg) rs61749412
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398
NM_000350.3(ABCA4):c.1834C>T (p.Gln612Ter) rs1057517700
NM_000350.3(ABCA4):c.1848del (p.Glu616fs) rs61751386
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter) rs61749414
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter) rs145961131
NM_000350.3(ABCA4):c.1937+1G>A rs61752401
NM_000350.3(ABCA4):c.1938-1G>A rs61751263
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu) rs62654395
NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter) rs865990202
NM_000350.3(ABCA4):c.1A>G (p.Met1Val) rs201738997
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.206G>A (p.Trp69Ter) rs886044722
NM_000350.3(ABCA4):c.2160+1G>T rs61749427
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp) rs61751395
NM_000350.3(ABCA4):c.2345G>A (p.Trp782Ter) rs911580078
NM_000350.3(ABCA4):c.2408del (p.Gly803fs)
NM_000350.3(ABCA4):c.2461T>C (p.Trp821Arg) rs61749433
NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter) rs61752406
NM_000350.3(ABCA4):c.2565G>A (p.Trp855Ter) rs61749438
NM_000350.3(ABCA4):c.2587+2T>C rs1557783989
NM_000350.3(ABCA4):c.2616_2617del (p.Phe873fs) rs62642560
NM_000350.3(ABCA4):c.2692G>T (p.Glu898Ter) rs61749441
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765
NM_000350.3(ABCA4):c.2798A>T (p.Asn933Ile) rs527236129
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.3(ABCA4):c.287del (p.Asn96fs) rs1553196583
NM_000350.3(ABCA4):c.2888del (p.Gly963fs) rs61752410
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) rs201471607
NM_000350.3(ABCA4):c.2927del (p.Leu976fs) rs863223338
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.3(ABCA4):c.296dup (p.Asn99fs) rs62645948
NM_000350.3(ABCA4):c.302+1G>A rs61751413
NM_000350.3(ABCA4):c.3050+5G>A rs61751262
NM_000350.3(ABCA4):c.3055A>G (p.Thr1019Ala) rs61749457
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met) rs201855602
NM_000350.3(ABCA4):c.3081T>G (p.Tyr1027Ter) rs1553190664
NM_000350.3(ABCA4):c.3083C>T (p.Ala1028Val) rs121909204
NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter) rs61751397
NM_000350.3(ABCA4):c.3093del (p.Gly1032fs) rs886044735
NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys) rs61750061
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.3139del (p.Glu1047fs) rs886042904
NM_000350.3(ABCA4):c.319C>T (p.Arg107Ter) rs765429911
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs) rs387906385
NM_000350.3(ABCA4):c.3259G>T (p.Glu1087Ter) rs61751398
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro) rs62645946
NM_000350.3(ABCA4):c.3303G>A (p.Trp1101Ter) rs61752419
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399
NM_000350.3(ABCA4):c.3385C>T (p.Arg1129Cys) rs779426136
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) rs1801269
NM_000350.3(ABCA4):c.3403C>T (p.Gln1135Ter) rs1057517701
NM_000350.3(ABCA4):c.3529_3532dup (p.Ser1178fs) rs886044736
NM_000350.3(ABCA4):c.3540_3555del (p.Ser1181fs) rs387906388
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.3(ABCA4):c.3682G>T (p.Glu1228Ter) rs1057517869
NM_000350.3(ABCA4):c.3754G>T (p.Glu1252Ter) rs61752423
NM_000350.3(ABCA4):c.3808G>T (p.Glu1270Ter) rs61752425
NM_000350.3(ABCA4):c.3813G>A (p.Glu1271=) rs886044737
NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter) rs746541266
NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter) rs61752427
NM_000350.3(ABCA4):c.3G>T (p.Met1Ile) rs886041554
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys) rs62642573
NM_000350.3(ABCA4):c.4195G>T (p.Glu1399Ter) rs62642573
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter) rs61750137
NM_000350.3(ABCA4):c.4253+4C>T rs61754044
NM_000350.3(ABCA4):c.4253+5G>A rs61750138
NM_000350.3(ABCA4):c.4253+5G>T rs61750138
NM_000350.3(ABCA4):c.4254-1G>C rs886044740
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142
NM_000350.3(ABCA4):c.4352+1G>A rs200967229
NM_000350.3(ABCA4):c.4354G>T (p.Glu1452Ter) rs886044742
NM_000350.3(ABCA4):c.4429C>T (p.Gln1477Ter) rs794727531
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402
NM_000350.3(ABCA4):c.4537del (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4539+1G>T rs61751388
NM_000350.3(ABCA4):c.4540-2A>G rs61752435
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861
NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter) rs1553188916
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574
NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter) rs62645957
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575
NM_000350.3(ABCA4):c.4637T>G (p.Leu1546Ter) rs1131691612
NM_000350.3(ABCA4):c.4640del (p.Lys1547fs) rs886044745
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.3(ABCA4):c.4773+3A>G rs759672616
NM_000350.3(ABCA4):c.478G>T (p.Glu160Ter) rs1064793005
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403
NM_000350.3(ABCA4):c.4947del (p.Glu1650fs) rs61750159
NM_000350.3(ABCA4):c.4954T>G (p.Tyr1652Asp) rs61750560
NM_000350.3(ABCA4):c.5018+2T>A rs61750562
NM_000350.3(ABCA4):c.5018+2T>C rs61750562
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019
NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs) rs61750566
NM_000350.3(ABCA4):c.5172G>A (p.Trp1724Ter) rs1557767754
NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs) rs1057518955
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter) rs886044747
NM_000350.3(ABCA4):c.5196+1G>A rs61751377
NM_000350.3(ABCA4):c.5196+2T>C rs61751405
NM_000350.3(ABCA4):c.5285C>A (p.Ala1762Asp) rs121909206
NM_000350.3(ABCA4):c.5289del (p.Val1764fs) rs1553188071
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp) rs121909205
NM_000350.3(ABCA4):c.5312+1G>A rs886044750
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter) rs61750571
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207
NM_000350.3(ABCA4):c.5460+1G>A rs61753030
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.564del (p.Glu189fs) rs886044148
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.3(ABCA4):c.571-2A>G rs61748534
NM_000350.3(ABCA4):c.5714+5G>A rs61751407
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro) rs61753033
NM_000350.3(ABCA4):c.5836-3C>A rs1064793013
NM_000350.3(ABCA4):c.5867_5870del (p.Asp1956fs) rs1553187228
NM_000350.3(ABCA4):c.5898+1G>A rs61750638
NM_000350.3(ABCA4):c.5899-1G>T rs1553187160
NM_000350.3(ABCA4):c.5899-2del rs1553187162
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.3(ABCA4):c.5912T>G (p.Leu1971Arg) rs61753034
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser) rs61750639
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641
NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp) rs61750643
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) rs61753038
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.3(ABCA4):c.6166A>T (p.Lys2056Ter) rs61750644
NM_000350.3(ABCA4):c.6184_6187del (p.Val2062fs) rs886042319
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.6283-3_6283-2delinsAG rs886044760
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys) rs61750648
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.3(ABCA4):c.6329G>A (p.Trp2110Ter) rs62642565
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=) rs61748520
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200
NM_000350.3(ABCA4):c.6386+2C>G rs61753043
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr) rs61751384
NM_000350.3(ABCA4):c.655A>T (p.Arg219Ter) rs757557272
NM_000350.3(ABCA4):c.6599_6600AG[1] (p.Arg2201fs) rs61751409
NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter) rs61753045
NM_000350.3(ABCA4):c.6647C>T (p.Ala2216Val) rs886044763
NM_000350.3(ABCA4):c.664del (p.Ala222fs) rs61748539
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs) rs63749055
NM_000350.3(ABCA4):c.67-1G>C rs778908435
NM_000350.3(ABCA4):c.67-2A>G rs398123339
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.6816+1G>A rs773599043
NM_000350.3(ABCA4):c.716G>A (p.Trp239Ter) rs755733328
NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys) rs62645952
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944
NM_000350.3(ABCA4):c.850_857del (p.Ile284fs) rs886042320
NM_000350.3(ABCA4):c.853C>T (p.Gln285Ter) rs886041951
NM_000350.3(ABCA4):c.880C>T (p.Gln294Ter) rs794727903
NM_000350.3(ABCA4):c.885del (p.Leu296fs) rs764759172

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