ClinVar Miner

List of variants in gene ABCA4 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
ClinVar version:
Total variants: 148
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HGVS dbSNP
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=) rs145483148
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter) rs61748550
NM_000350.3(ABCA4):c.123G>A (p.Trp41Ter) rs748357067
NM_000350.3(ABCA4):c.1240-14C>T rs4147830
NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser) rs794726979
NM_000350.3(ABCA4):c.1267C>T (p.His423Tyr) rs138044729
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831
NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys) rs777078540
NM_000350.3(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.3(ABCA4):c.1356+5dup rs281865386
NM_000350.3(ABCA4):c.1410A>C (p.Glu470Asp) rs886044578
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548
NM_000350.3(ABCA4):c.141A>G (p.Pro47=) rs4847281
NM_000350.3(ABCA4):c.1492G>A (p.Asp498Asn) rs750836609
NM_000350.3(ABCA4):c.1510A>C (p.Asn504His) rs1243753206
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1653G>A (p.Val551=) rs61753963
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met) rs74516571
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=) rs117400594
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile) rs575453437
NM_000350.3(ABCA4):c.2345G>A (p.Trp782Ter) rs911580078
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr) rs61749437
NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter) rs61752406
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440
NM_000350.3(ABCA4):c.2782G>T (p.Gly928Trp) rs398123337
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765
NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg) rs144995371
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.3(ABCA4):c.2869C>A (p.Gln957Lys) rs398123338
NM_000350.3(ABCA4):c.2902G>A (p.Gly968Arg) rs794727220
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met) rs201855602
NM_000350.3(ABCA4):c.3103C>G (p.Gln1035Glu) rs779067729
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.3139del (p.Glu1047fs) rs886042904
NM_000350.3(ABCA4):c.3262C>T (p.Pro1088Ser) rs1553190579
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120
NM_000350.3(ABCA4):c.3468C>T (p.Tyr1156=)
NM_000350.3(ABCA4):c.3576C>T (p.Val1192=) rs187965758
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552
NM_000350.3(ABCA4):c.3610G>A (p.Asp1204Asn) rs61750127
NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939
NM_000350.3(ABCA4):c.3755A>T (p.Glu1252Val) rs377098736
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=) rs147884766
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135
NM_000350.3(ABCA4):c.4254-5T>G rs886044551
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu) rs62646860
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060
NM_000350.3(ABCA4):c.4342G>A (p.Gly1448Arg) rs142506651
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368
NM_000350.3(ABCA4):c.4401C>T (p.Ser1467=) rs188775667
NM_000350.3(ABCA4):c.4407C>T (p.Asn1469=) rs750526487
NM_000350.3(ABCA4):c.4429C>T (p.Gln1477Ter) rs794727531
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402
NM_000350.3(ABCA4):c.4529C>T (p.Pro1510Leu) rs756106154
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402
NM_000350.3(ABCA4):c.4540-2A>G rs61752435
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
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.4611G>A (p.Thr1537=) rs138475920
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863
NM_000350.3(ABCA4):c.4715C>T (p.Thr1572Met) rs185093512
NM_000350.3(ABCA4):c.4730T>C (p.Val1577Ala) rs771574413
NM_000350.3(ABCA4):c.4754G>A (p.Arg1585Gln) rs754298400
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.3(ABCA4):c.4773+48C>T rs472908
NM_000350.3(ABCA4):c.4900G>T (p.Ala1634Ser) rs1553188613
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.5056G>A (p.Val1686Met) rs61753019
NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs) rs61750566
NM_000350.3(ABCA4):c.5219G>A (p.Gly1740Glu) rs794727593
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+8G>A rs187953772
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro) rs377311148
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.3(ABCA4):c.564del (p.Glu189fs) rs886044148
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.3(ABCA4):c.5714+5G>A rs61751407
NM_000350.3(ABCA4):c.5836-11G>A rs1800739
NM_000350.3(ABCA4):c.5836-7C>T rs886042784
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029
NM_000350.3(ABCA4):c.5880C>T (p.Val1960=) rs746250336
NM_000350.3(ABCA4):c.5899-2del rs1553187162
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.3(ABCA4):c.596C>T (p.Ala199Val) rs145065936
NM_000350.3(ABCA4):c.6006-16G>A rs4147863
NM_000350.3(ABCA4):c.6040A>G (p.Met2014Val) rs201883531
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=) rs1762114
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641
NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln) rs767729255
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.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.6193G>C (p.Asp2065His) rs886043588
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359
NM_000350.3(ABCA4):c.6282+7G>A rs17110761
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=) rs1801555
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646
NM_000350.3(ABCA4):c.6319C>A (p.Arg2107Ser) rs2297669
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
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.635G>A (p.Arg212His) rs6657239
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.6529G>A (p.Asp2177Asn) rs1800555
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs) rs63749055
NM_000350.3(ABCA4):c.67-2A>G rs398123339
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.6730-3T>C rs1800717
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944
NM_000350.3(ABCA4):c.769-3C>T rs368010652
NM_000350.3(ABCA4):c.850_857del (p.Ile284fs) rs886042320
NM_000350.3(ABCA4):c.870G>A (p.Arg290=) rs794727902
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) rs190540405
NM_000350.3(ABCA4):c.880C>T (p.Gln294Ter) rs794727903

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