List of variants in gene ABCA4 reported as pathogenic for age-related macular degeneration

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 208

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HGVS	dbSNP	gnomAD frequency
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.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_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
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.6089G>A (p.Arg2030Gln)	rs61750641	0.00048
NM_000350.3(ABCA4):c.5714+5G>A	rs61751407	0.00036
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)	rs200692438	0.00033
NM_000350.3(ABCA4):c.5461-10T>C	rs1800728	0.00031
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.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.5338C>G (p.Pro1780Ala)	rs121909207	0.00014
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_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)	rs201471607	0.00007
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu)	rs61750202	0.00006
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)	rs61751402	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_000350.3(ABCA4):c.1715G>A (p.Arg572Gln)	rs61748559	0.00005
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp)	rs121909205	0.00005
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)	rs61748550	0.00004
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp)	rs61751395	0.00004
NM_000350.3(ABCA4):c.4539+2028C>T	rs869320785	0.00004
NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp)	rs61750643	0.00004
NM_000350.3(ABCA4):c.1937+1G>A	rs61752401	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.5381C>A (p.Ala1794Asp)	rs61751406	0.00003
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro)	rs61753033	0.00003
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.3050+5G>A	rs61751262	0.00002
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)	rs61751399	0.00002
NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter)	rs61752427	0.00002
NM_000350.3(ABCA4):c.6647C>T (p.Ala2216Val)	rs886044763	0.00002
NM_000350.3(ABCA4):c.1239+1G>C	rs765707028	0.00001
NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter)	rs886044725	0.00001
NM_000350.3(ABCA4):c.1364T>A (p.Leu455Gln)	rs1366296798	0.00001
NM_000350.3(ABCA4):c.1584C>A (p.Tyr528Ter)	rs886044727	0.00001
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile)	rs61752398	0.00001
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter)	rs61749414	0.00001
NM_000350.3(ABCA4):c.1938-1G>A	rs61751263	0.00001
NM_000350.3(ABCA4):c.1A>G (p.Met1Val)	rs201738997	0.00001
NM_000350.3(ABCA4):c.2160+1G>T	rs61749427	0.00001
NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter)	rs61752406	0.00001
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)	rs61749459	0.00001
NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys)	rs61750061	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.3482G>A (p.Arg1161His)	rs768278935	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+5G>A	rs61750138	0.00001
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu)	rs62646860	0.00001
NM_000350.3(ABCA4):c.4352+1G>A	rs200967229	0.00001
NM_000350.3(ABCA4):c.4436G>A (p.Trp1479Ter)	rs61752434	0.00001
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)	rs61750146	0.00001
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter)	rs62646861	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.5327C>T (p.Pro1776Leu)	rs1553187939	0.00001
NM_000350.3(ABCA4):c.5774G>T (p.Arg1925Ile)	rs1208195953	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.6386+2C>G	rs61753043	0.00001
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)	rs61750654	0.00001
NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser)	rs61750658	0.00001
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)	rs61748538	0.00001
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp)	rs781716640	0.00001
NM_000350.2(ABCA4):c.3210_3211insGT (p.Ser1071Valfs)	rs61750064
NM_000350.2(ABCA4):c.571_580dup	rs1662216783
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.1025_1038del (p.Asp342fs)	rs63749083
NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter)	rs61752390
NM_000350.3(ABCA4):c.1172del (p.Lys391fs)	rs1570407032
NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter)	rs61751410
NM_000350.3(ABCA4):c.1344del (p.Met448fs)	rs61748554
NM_000350.3(ABCA4):c.1357-2A>G	rs886044726
NM_000350.3(ABCA4):c.1391T>A (p.Leu464Ter)	rs2101101348
NM_000350.3(ABCA4):c.1454del (p.Gly485fs)	rs1661577361
NM_000350.3(ABCA4):c.160+2T>C	rs886044721
NM_000350.3(ABCA4):c.161G>T (p.Cys54Phe)	rs150774447
NM_000350.3(ABCA4):c.1621_1622del (p.Leu541fs)	rs1553192715
NM_000350.3(ABCA4):c.1749_1750del (p.Lys583fs)	rs2101079015
NM_000350.3(ABCA4):c.1760+2T>G	rs61751385
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys)	rs1557787473
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu)	rs62654395
NM_000350.3(ABCA4):c.1995C>A (p.Tyr665Ter)	rs757302286
NM_000350.3(ABCA4):c.2007G>C (p.Met669Ile)	rs545963645
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)	rs61749423
NM_000350.3(ABCA4):c.2069del (p.Gly690fs)	rs2101075191
NM_000350.3(ABCA4):c.206G>A (p.Trp69Ter)	rs886044722
NM_000350.3(ABCA4):c.2161-1G>A	rs1401924846
NM_000350.3(ABCA4):c.2292_2295delinsAGG (p.Cys764_Ser765delinsTer)	rs2101069758
NM_000350.3(ABCA4):c.2347C>T (p.Gln783Ter)	rs2101069632
NM_000350.3(ABCA4):c.2408del (p.Gly803fs)	rs1570386206
NM_000350.3(ABCA4):c.2424C>G (p.Tyr808Ter)
NM_000350.3(ABCA4):c.2453G>C (p.Gly818Ala)
NM_000350.3(ABCA4):c.2461T>C (p.Trp821Arg)	rs61749433
NM_000350.3(ABCA4):c.2565G>A (p.Trp855Ter)	rs61749438
NM_000350.3(ABCA4):c.2587+1G>A	rs61749439
NM_000350.3(ABCA4):c.2587+2T>C	rs1557783989
NM_000350.3(ABCA4):c.2692G>T (p.Glu898Ter)	rs61749441
NM_000350.3(ABCA4):c.2731_2732del (p.Glu911fs)	rs1660761326
NM_000350.3(ABCA4):c.2741_2742del (p.His914fs)	rs2101059717
NM_000350.3(ABCA4):c.2798A>T (p.Asn933Ile)	rs527236129
NM_000350.3(ABCA4):c.2807del (p.Lys936fs)	rs2101057370
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)	rs61748529
NM_000350.3(ABCA4):c.287del (p.Asn96fs)	rs1553196583
NM_000350.3(ABCA4):c.2888del (p.Gly963fs)	rs61752410
NM_000350.3(ABCA4):c.2908del (p.Thr970fs)	rs2101057076
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)	rs61749451
NM_000350.3(ABCA4):c.2919-2A>G	rs1660626613
NM_000350.3(ABCA4):c.2922_2949del (p.Ile975fs)	rs2101053587
NM_000350.3(ABCA4):c.296dup (p.Asn99fs)	rs62645948
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.3210_3211dup (p.Ser1071fs)	rs387906385
NM_000350.3(ABCA4):c.3296C>G (p.Ser1099Ter)	rs776773510
NM_000350.3(ABCA4):c.3449_3451del (p.Cys1150del)	rs1570370826
NM_000350.3(ABCA4):c.3470T>G (p.Leu1157Ter)	rs2101048479
NM_000350.3(ABCA4):c.3529_3532dup (p.Ser1178fs)	rs886044736
NM_000350.3(ABCA4):c.36G>A (p.Trp12Ter)	rs761209432
NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter)	rs746541266
NM_000350.3(ABCA4):c.3898del (p.Arg1300fs)
NM_000350.3(ABCA4):c.4003_4004del (p.Pro1335fs)	rs1571265241
NM_000350.3(ABCA4):c.4036_4037del (p.Thr1346fs)	rs61751401
NM_000350.3(ABCA4):c.4102C>T (p.Arg1368Cys)	rs1183074086
NM_000350.3(ABCA4):c.4108del (p.His1370fs)	rs1571265125
NM_000350.3(ABCA4):c.4128+1G>A	rs2101036750
NM_000350.3(ABCA4):c.4195G>T (p.Glu1399Ter)	rs62642573
NM_000350.3(ABCA4):c.4222del (p.Trp1408fs)	rs1571264574
NM_000350.3(ABCA4):c.4243dup (p.Thr1415fs)
NM_000350.3(ABCA4):c.4254-1G>A	rs886044740
NM_000350.3(ABCA4):c.4254-1G>C	rs886044740
NM_000350.3(ABCA4):c.4354G>T (p.Glu1452Ter)	rs886044742
NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter)	rs1553188916
NM_000350.3(ABCA4):c.4571del (p.Asp1524fs)	rs2101027758
NM_000350.3(ABCA4):c.4598T>C (p.Phe1533Ser)	rs1557770154
NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter)	rs62645957
NM_000350.3(ABCA4):c.4640del (p.Lys1547fs)	rs886044745
NM_000350.3(ABCA4):c.488_491del (p.Leu163fs)	rs747950242
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del)	rs62646872
NM_000350.3(ABCA4):c.5059del (p.Ile1687fs)	rs1571256775
NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs)	rs61750566
NM_000350.3(ABCA4):c.5169C>G (p.Tyr1723Ter)	rs1437993640
NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs)	rs1057518955
NM_000350.3(ABCA4):c.517dup (p.Leu173fs)	rs1662327418
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter)	rs886044747
NM_000350.3(ABCA4):c.5196+2T>C	rs61751405
NM_000350.3(ABCA4):c.5285C>A (p.Ala1762Asp)	rs121909206
NM_000350.3(ABCA4):c.5351T>G (p.Leu1784Arg)	rs746252741
NM_000350.3(ABCA4):c.5380G>C (p.Ala1794Pro)	rs1571252997
NM_000350.3(ABCA4):c.5460+1G>A	rs61753030
NM_000350.3(ABCA4):c.5460+2T>C
NM_000350.3(ABCA4):c.5461-1G>T	rs2101008577
NM_000350.3(ABCA4):c.5637del (p.Phe1880fs)
NM_000350.3(ABCA4):c.5655del (p.Val1887fs)	rs1659524475
NM_000350.3(ABCA4):c.571-2A>G	rs61748534
NM_000350.3(ABCA4):c.5907CCT[3] (p.Leu1971_Gly1972insLeu)	rs1659430629
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.5932A>G (p.Lys1978Glu)	rs1064793014
NM_000350.3(ABCA4):c.5977del (p.Ser1993fs)	rs1659426620
NM_000350.3(ABCA4):c.6077del (p.Leu2026fs)	rs1571245809
NM_000350.3(ABCA4):c.6146del (p.Lys2049fs)	rs1659351261
NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg)	rs61753039
NM_000350.3(ABCA4):c.6181_6184del (p.Thr2061fs)	rs1659200106
NM_000350.3(ABCA4):c.6221del (p.Gly2074fs)	rs1571243037
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs)	rs281865382
NM_000350.3(ABCA4):c.6283-3_6283-2delinsAG	rs886044760
NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His)	rs2100994049
NM_000350.3(ABCA4):c.6329G>A (p.Trp2110Ter)	rs62642565
NM_000350.3(ABCA4):c.6471del (p.Lys2158fs)	rs1373168392
NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter)	rs61753045
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+2T>A	rs112005636
NM_000350.3(ABCA4):c.688T>A (p.Cys230Ser)	rs1057518767
NM_000350.3(ABCA4):c.768+1G>A
NM_000350.3(ABCA4):c.834del (p.Asp279fs)	rs779743222
NM_000350.3(ABCA4):c.982G>T (p.Glu328Ter)	rs61751418
NM_000350.3:c.1876_1999del

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