ClinVar Miner

List of variants in gene ABCA4 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 207
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HGVS dbSNP
NM_000350.2(ABCA4):c.1356+14dupG rs886046567
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.3(ABCA4):c.*147C>T rs773349580
NM_000350.3(ABCA4):c.1009T>C (p.Phe337Leu) rs886044724
NM_000350.3(ABCA4):c.1013A>G (p.Asn338Ser) rs1057522235
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=) rs145483148
NM_000350.3(ABCA4):c.1082C>A (p.Ser361Tyr) rs748487419
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549
NM_000350.3(ABCA4):c.1155C>T (p.Ile385=) rs376624031
NM_000350.3(ABCA4):c.1240-8G>A
NM_000350.3(ABCA4):c.1240-8G>C rs185225547
NM_000350.3(ABCA4):c.1241C>A (p.Ala414Asp) rs1553193893
NM_000350.3(ABCA4):c.1267C>T (p.His423Tyr) rs138044729
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452
NM_000350.3(ABCA4):c.1319A>G (p.Tyr440Cys) rs770439859
NM_000350.3(ABCA4):c.1325T>C (p.Phe442Ser) rs61752392
NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys) rs777078540
NM_000350.3(ABCA4):c.1356+6_1356+7insC rs886046568
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.1492G>A (p.Asp498Asn) rs750836609
NM_000350.3(ABCA4):c.1493A>G (p.Asp498Gly) rs147135304
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=) rs139050119
NM_000350.3(ABCA4):c.1510A>C (p.Asn504His) rs1243753206
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys) rs138157885
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=) rs201602424
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1645G>A (p.Ala549Thr) rs61748557
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=) rs143263315
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.1793T>G (p.Val598Gly) rs886044729
NM_000350.3(ABCA4):c.1805G>A (p.Arg602Gln) rs61749410
NM_000350.3(ABCA4):c.180G>C (p.Ala60=) rs756647171
NM_000350.3(ABCA4):c.185C>T (p.Pro62Leu) rs1057520211
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.2036A>T (p.Glu679Val) rs1553192420
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) rs62654397
NM_000350.3(ABCA4):c.2096C>A (p.Thr699Asn) rs1057519142
NM_000350.3(ABCA4):c.2184C>A (p.Ser728Arg) rs776910485
NM_000350.3(ABCA4):c.2236A>G (p.Met746Val) rs1293462383
NM_000350.3(ABCA4):c.2278C>G (p.Leu760Val) rs886046566
NM_000350.3(ABCA4):c.2353C>T (p.Arg785Cys) rs781254854
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr) rs374410829
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu) rs61750202
NM_000350.3(ABCA4):c.2517C>T (p.Ser839=) rs138246242
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr) rs61749437
NM_000350.3(ABCA4):c.2566T>A (p.Tyr856Asn) rs201223321
NM_000350.3(ABCA4):c.2588-12C>G rs61751396
NM_000350.3(ABCA4):c.2608C>T (p.Pro870Ser) rs867875828
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440
NM_000350.3(ABCA4):c.2772G>A (p.Gly924=) rs371907790
NM_000350.3(ABCA4):c.2782G>T (p.Gly928Trp) rs398123337
NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg) rs144995371
NM_000350.3(ABCA4):c.2863G>A (p.Glu955Lys) rs765680067
NM_000350.3(ABCA4):c.2869C>A (p.Gln957Lys) rs398123338
NM_000350.3(ABCA4):c.286A>C (p.Asn96His) rs61748529
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=) rs61754033
NM_000350.3(ABCA4):c.288C>A (p.Asn96Lys) rs886039297
NM_000350.3(ABCA4):c.2902G>A (p.Gly968Arg) rs794727220
NM_000350.3(ABCA4):c.2919-10T>C rs886044733
NM_000350.3(ABCA4):c.2940G>C (p.Leu980Phe) rs886044734
NM_000350.3(ABCA4):c.294C>G (p.Asn98Lys) rs145133167
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.3063T>G (p.Ala1021=) rs886046565
NM_000350.3(ABCA4):c.3103C>G (p.Gln1035Glu) rs779067729
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919
NM_000350.3(ABCA4):c.3194G>A (p.Gly1065Asp) rs886039300
NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg) rs775661924
NM_000350.3(ABCA4):c.3262C>T (p.Pro1088Ser) rs1553190579
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701
NM_000350.3(ABCA4):c.3305A>C (p.Asp1102Ala) rs143689372
NM_000350.3(ABCA4):c.331G>C (p.Glu111Gln) rs766512063
NM_000350.3(ABCA4):c.3385C>T (p.Arg1129Cys) rs779426136
NM_000350.3(ABCA4):c.3468C>T (p.Tyr1156=)
NM_000350.3(ABCA4):c.3481C>T (p.Arg1161Cys) rs553776104
NM_000350.3(ABCA4):c.3522+6T>C
NM_000350.3(ABCA4):c.3576C>T (p.Val1192=) rs187965758
NM_000350.3(ABCA4):c.3586A>T (p.Thr1196Ser) rs370967816
NM_000350.3(ABCA4):c.3607+13C>T rs374630957
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.3670T>G (p.Cys1224Gly) rs762213896
NM_000350.3(ABCA4):c.3701C>T (p.Pro1234Leu) rs1383231039
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys) rs138359497
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.3813+7T>C rs769882474
NM_000350.3(ABCA4):c.3900A>G (p.Arg1300=) rs886044739
NM_000350.3(ABCA4):c.3947A>C (p.Asp1316Ala) rs746468013
NM_000350.3(ABCA4):c.3977C>G (p.Ala1326Gly) rs761989194
NM_000350.3(ABCA4):c.4069G>A (p.Ala1357Thr)
NM_000350.3(ABCA4):c.4128G>A (p.Gln1376=) rs1064797113
NM_000350.3(ABCA4):c.4140G>A (p.Pro1380=) rs139109485
NM_000350.3(ABCA4):c.4194C>T (p.Gly1398=) rs763857670
NM_000350.3(ABCA4):c.424C>T (p.His142Tyr) rs1085307835
NM_000350.3(ABCA4):c.4254-5T>G rs886044551
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.4417C>A (p.Leu1473Met) rs142732109
NM_000350.3(ABCA4):c.4510G>A (p.Glu1504Lys) rs190370456
NM_000350.3(ABCA4):c.4529C>T (p.Pro1510Leu) rs756106154
NM_000350.3(ABCA4):c.4532C>T (p.Pro1511Leu) rs886046564
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402
NM_000350.3(ABCA4):c.4539+2028C>T rs869320785
NM_000350.3(ABCA4):c.4539+2066C>G
NM_000350.3(ABCA4):c.4540-2036C>A rs886044743
NM_000350.3(ABCA4):c.4573C>T (p.Leu1525=) rs774957381
NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=) rs138831474
NM_000350.3(ABCA4):c.4598T>C (p.Phe1533Ser) rs1557770154
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=) rs138475920
NM_000350.3(ABCA4):c.4621del (p.Leu1541_Ile1542insTer) rs1557770132
NM_000350.3(ABCA4):c.4635C>T (p.Ser1545=) rs886044744
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863
NM_000350.3(ABCA4):c.4679T>A (p.Ile1560Asn)
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.3(ABCA4):c.4696C>T (p.Leu1566Phe)
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.4749T>A (p.Leu1583=) rs754531924
NM_000350.3(ABCA4):c.4753C>T (p.Arg1585Trp) rs745512565
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.4772G>A (p.Gly1591Glu) rs1472640519
NM_000350.3(ABCA4):c.4773+3A>G rs759672616
NM_000350.3(ABCA4):c.4842C>G (p.Asn1614Lys)
NM_000350.3(ABCA4):c.4848+13T>C rs374196141
NM_000350.3(ABCA4):c.4900G>T (p.Ala1634Ser) rs1553188613
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403
NM_000350.3(ABCA4):c.4925G>T (p.Ser1642Ile) rs114518437
NM_000350.3(ABCA4):c.4945C>T (p.Pro1649Ser) rs886046563
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310
NM_000350.3(ABCA4):c.5121C>A (p.Asn1707Lys) rs886046562
NM_000350.3(ABCA4):c.5196+1013A>G rs886044748
NM_000350.3(ABCA4):c.5196+1056A>G rs886044749
NM_000350.3(ABCA4):c.5197-4C>T rs758825834
NM_000350.3(ABCA4):c.5219G>A (p.Gly1740Glu) rs794727593
NM_000350.3(ABCA4):c.5312+3A>T rs767451031
NM_000350.3(ABCA4):c.5312+8G>A rs187953772
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207
NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=) rs202199507
NM_000350.3(ABCA4):c.5460+6C>T rs886046561
NM_000350.3(ABCA4):c.5478C>T (p.Asn1826=) rs762632312
NM_000350.3(ABCA4):c.5560G>T (p.Val1854Leu) rs374687000
NM_000350.3(ABCA4):c.5584+6T>C rs61750633
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.3(ABCA4):c.5610C>A (p.Phe1870Leu) rs886046560
NM_000350.3(ABCA4):c.5659G>A (p.Val1887Met) rs764320529
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=) rs191506332
NM_000350.3(ABCA4):c.5714+4C>T rs376586802
NM_000350.3(ABCA4):c.574G>A (p.Ala192Thr) rs61748535
NM_000350.3(ABCA4):c.5836-7C>T rs886042784
NM_000350.3(ABCA4):c.587C>T (p.Pro196Leu) rs769176363
NM_000350.3(ABCA4):c.5880C>T (p.Val1960=) rs746250336
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.3(ABCA4):c.5953C>T (p.Leu1985Phe) rs886046559
NM_000350.3(ABCA4):c.596C>T (p.Ala199Val) rs145065936
NM_000350.3(ABCA4):c.5973G>C (p.Val1991=) rs886044757
NM_000350.3(ABCA4):c.6031C>T (p.His2011Tyr) rs1057523778
NM_000350.3(ABCA4):c.6040A>G (p.Met2014Val) rs201883531
NM_000350.3(ABCA4):c.6107A>G (p.Tyr2036Cys) rs878853398
NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln) rs767729255
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
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.6218G>C (p.Gly2073Ala) rs752850266
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=) rs61748519
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.6319C>T (p.Arg2107Cys)
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met) rs202127235
NM_000350.3(ABCA4):c.6416G>C (p.Arg2139Pro) rs761867791
NM_000350.3(ABCA4):c.6426C>G (p.Ile2142Met) rs1184801813
NM_000350.3(ABCA4):c.6453G>T (p.Met2151Ile) rs1057518954
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr) rs61748537
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val) rs61748521
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072
NM_000350.3(ABCA4):c.677G>T (p.Arg226Leu) rs144310835
NM_000350.3(ABCA4):c.71G>A (p.Arg24His) rs62645958
NM_000350.3(ABCA4):c.741C>T (p.Asn247=) rs372976742
NM_000350.3(ABCA4):c.764G>A (p.Arg255His) rs148387660
NM_000350.3(ABCA4):c.769-3C>T rs368010652
NM_000350.3(ABCA4):c.791G>A (p.Arg264His) rs567985213
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu) rs138682163
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.885C>G (p.Asp295Glu) rs1553194068
NM_000350.3(ABCA4):c.88G>A (p.Val30Met) rs202127496
NM_000350.3(ABCA4):c.956T>G (p.Leu319Arg) rs886044723
NM_000350.3(ABCA4):c.981C>T (p.Pro327=) rs61753057

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