ClinVar Miner

List of variants in gene ABCA4 reported by NIHR Bioresource Rare Diseases,University of Cambridge

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Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP
NM_000350.2(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.2(ABCA4):c.1335C>G (p.Ser445Arg) rs61748552
NM_000350.2(ABCA4):c.1497G>A (p.Trp499Ter) rs1553193813
NM_000350.2(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.2(ABCA4):c.1557C>A (p.Cys519Ter) rs1553192726
NM_000350.2(ABCA4):c.1609C>T (p.Arg537Cys) rs61748556
NM_000350.2(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.2(ABCA4):c.1757A>G (p.Asp586Gly) rs1553192682
NM_000350.2(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409
NM_000350.2(ABCA4):c.1819G>A (p.Gly607Arg) rs61749412
NM_000350.2(ABCA4):c.1906C>T (p.Gln636Ter) rs145961131
NM_000350.2(ABCA4):c.1938-1G>A rs61751263
NM_000350.2(ABCA4):c.1984dup (p.Ala662Glyfs) rs1553192432
NM_000350.2(ABCA4):c.2023G>A (p.Val675Ile) rs575453437
NM_000350.2(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.2(ABCA4):c.223T>G (p.Cys75Gly) rs61748526
NM_000350.2(ABCA4):c.2560G>A (p.Ala854Thr) rs61749437
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.2813T>C (p.Phe938Ser) rs149071415
NM_000350.2(ABCA4):c.2915C>A (p.Thr972Asn) rs61749451
NM_000350.2(ABCA4):c.2918+1060G>T rs763003887
NM_000350.2(ABCA4):c.2966T>C (p.Val989Ala) rs61749454
NM_000350.2(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455
NM_000350.2(ABCA4):c.3064G>A (p.Glu1022Lys) rs61749459
NM_000350.2(ABCA4):c.3081T>G (p.Tyr1027Ter) rs1553190664
NM_000350.2(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.2(ABCA4):c.3259G>T (p.Glu1087Ter) rs61751398
NM_000350.2(ABCA4):c.3299T>A (p.Ile1100Asn) rs1553190559
NM_000350.2(ABCA4):c.3303G>A (p.Trp1101Ter) rs61752419
NM_000350.2(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399
NM_000350.2(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129
NM_000350.2(ABCA4):c.4129-1G>A rs1553189507
NM_000350.2(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.2(ABCA4):c.4253+5G>A rs61750138
NM_000350.2(ABCA4):c.4253+5G>T rs61750138
NM_000350.2(ABCA4):c.4319T>C (p.Phe1440Ser) rs61750141
NM_000350.2(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368
NM_000350.2(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402
NM_000350.2(ABCA4):c.4519G>A (p.Gly1507Arg) rs568792949
NM_000350.2(ABCA4):c.4537delC (p.Gln1513Argfs) rs281865377
NM_000350.2(ABCA4):c.4537dupC (p.Gln1513Profs) rs281865377
NM_000350.2(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402
NM_000350.2(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152
NM_000350.2(ABCA4):c.466A>G (p.Ile156Val) rs62646863
NM_000350.2(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.2(ABCA4):c.4727T>G (p.Leu1576Arg) rs1553188682
NM_000350.2(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.2(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000350.2(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403
NM_000350.2(ABCA4):c.5018+2T>C rs61750562
NM_000350.2(ABCA4):c.5018+5G>A rs1553188588
NM_000350.2(ABCA4):c.5088C>G (p.Ser1696Arg) rs1435203678
NM_000350.2(ABCA4):c.5161_5162delAC (p.Thr1721Hisfs) rs61750566
NM_000350.2(ABCA4):c.5196+1137G>A rs778234759
NM_000350.2(ABCA4):c.5315G>A (p.Trp1772Ter) rs776757706
NM_000350.2(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406
NM_000350.2(ABCA4):c.5461-10T>C rs1800728
NM_000350.2(ABCA4):c.5463G>A (p.Thr1821=) rs367857935
NM_000350.2(ABCA4):c.5516T>C (p.Phe1839Ser) rs1297857869
NM_000350.2(ABCA4):c.5714+5G>A rs61751407
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.2(ABCA4):c.5917delG (p.Val1973Terfs) rs61751389
NM_000350.2(ABCA4):c.5932A>G (p.Lys1978Glu) rs1064793014
NM_000350.2(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383
NM_000350.2(ABCA4):c.6098T>C (p.Leu2033Pro) rs1553186896
NM_000350.2(ABCA4):c.6098T>G (p.Leu2033Arg) rs1553186896
NM_000350.2(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.2(ABCA4):c.6226A>G (p.Lys2076Glu) rs1553186509
NM_000350.2(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.2(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.2(ABCA4):c.6329G>A (p.Trp2110Ter) rs62642565
NM_000350.2(ABCA4):c.6342G>A (p.Val2114=) rs61748520
NM_000350.2(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654
NM_000350.2(ABCA4):c.6449G>A (p.Cys2150Tyr) rs61751384
NM_000350.2(ABCA4):c.658C>T (p.Arg220Cys) rs61748538
NM_000350.2(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000350.2(ABCA4):c.6729+5_6729+19delGTTGGCCCTGGGGCA rs749526785
NM_000350.2(ABCA4):c.712C>T (p.Gln238Ter) rs1356104318
NM_000350.2(ABCA4):c.719T>G (p.Ile240Arg) rs1553195472
NM_000350.2(ABCA4):c.768G>T (p.Val256=) rs62645944
NM_000350.2(ABCA4):c.885delC (p.Leu296Cysfs) rs764759172
NM_000350.2(ABCA4):c.926C>G (p.Pro309Arg) rs61748545
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071Cysfs) rs387906385

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