ClinVar Miner

List of variants in gene ABCA4 reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 233
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5984A>T (p.Asp1995Val) rs141489669 0.00022
NM_000350.3(ABCA4):c.6416G>A (p.Arg2139Gln) rs761867791 0.00017
NM_000350.3(ABCA4):c.2673A>T (p.Glu891Asp) rs766079334 0.00014
NM_000350.3(ABCA4):c.3184C>A (p.Leu1062Ile) rs966434923 0.00006
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559 0.00005
NM_000350.3(ABCA4):c.2432G>A (p.Arg811His) rs368016280 0.00003
NM_000350.3(ABCA4):c.3305A>G (p.Asp1102Gly) rs143689372 0.00003
NM_000350.3(ABCA4):c.3481C>T (p.Arg1161Cys) rs553776104 0.00003
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys) rs138359497 0.00003
NM_000350.3(ABCA4):c.3298A>G (p.Ile1100Val) rs572604704 0.00002
NM_000350.3(ABCA4):c.5069T>C (p.Met1690Thr) rs1333985048 0.00002
NM_000350.3(ABCA4):c.587C>T (p.Pro196Leu) rs769176363 0.00002
NM_000350.3(ABCA4):c.1037A>C (p.Lys346Thr) rs61752389 0.00001
NM_000350.3(ABCA4):c.1528C>A (p.Leu510Ile) rs758584771 0.00001
NM_000350.3(ABCA4):c.1817G>A (p.Gly606Asp) rs147932486 0.00001
NM_000350.3(ABCA4):c.185C>T (p.Pro62Leu) rs1057520211 0.00001
NM_000350.3(ABCA4):c.2042G>A (p.Arg681Gln) rs761380652 0.00001
NM_000350.3(ABCA4):c.2161-6T>C rs998974599 0.00001
NM_000350.3(ABCA4):c.2608C>T (p.Pro870Ser) rs867875828 0.00001
NM_000350.3(ABCA4):c.2654-8T>G rs765263670 0.00001
NM_000350.3(ABCA4):c.2919-10T>C rs886044733 0.00001
NM_000350.3(ABCA4):c.2942C>T (p.Pro981Leu) rs147826775 0.00001
NM_000350.3(ABCA4):c.3005G>A (p.Arg1002Gln) rs752000268 0.00001
NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys) rs61750061 0.00001
NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg) rs775661924 0.00001
NM_000350.3(ABCA4):c.3218C>T (p.Ala1073Val) rs754788289 0.00001
NM_000350.3(ABCA4):c.3293G>A (p.Arg1098His) rs891533398 0.00001
NM_000350.3(ABCA4):c.3384C>G (p.Asp1128Glu) rs369922919 0.00001
NM_000350.3(ABCA4):c.4103G>A (p.Arg1368His) rs761163530 0.00001
NM_000350.3(ABCA4):c.4613A>T (p.Tyr1538Phe) rs1427105205 0.00001
NM_000350.3(ABCA4):c.5206T>C (p.Ser1736Pro) rs61750568 0.00001
NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val) rs1188515677 0.00001
NM_000350.3(ABCA4):c.5773A>G (p.Arg1925Gly) rs757449019 0.00001
NM_000350.3(ABCA4):c.5774G>T (p.Arg1925Ile) rs1208195953 0.00001
NM_000350.3(ABCA4):c.599T>C (p.Leu200Pro) rs1662215591 0.00001
NM_000350.3(ABCA4):c.6146A>C (p.Lys2049Thr) rs760481450 0.00001
NM_000350.3(ABCA4):c.6250G>A (p.Ala2084Thr) rs1250914690 0.00001
NM_000350.3(ABCA4):c.6787C>T (p.Arg2263Ter) rs998363634 0.00001
NC_000001.10:g.(?_94508297)_(94511126_?)dup
NC_000001.10:g.(?_94548977)_(94551693_?)del
NC_000001.11:g.(?_93996109)_(93998110_?)del
NC_000001.11:g.(?_94023386)_(94023418_?)del
NM_000350.3(ABCA4):c.1019A>C (p.Tyr340Ser) rs1191143782
NM_000350.3(ABCA4):c.1240-8G>A rs185225547
NM_000350.3(ABCA4):c.1519G>T (p.Asp507Tyr)
NM_000350.3(ABCA4):c.1529T>A (p.Leu510His)
NM_000350.3(ABCA4):c.1554+1G>A rs61752393
NM_000350.3(ABCA4):c.1555-1G>T rs61752394
NM_000350.3(ABCA4):c.160+1G>A rs61748523
NM_000350.3(ABCA4):c.1649G>A (p.Gly550Glu)
NM_000350.3(ABCA4):c.1657T>G (p.Phe553Val)
NM_000350.3(ABCA4):c.1758C>G (p.Asp586Glu) rs1570393727
NM_000350.3(ABCA4):c.1783G>A (p.Ala595Thr) rs2101078458
NM_000350.3(ABCA4):c.178G>A (p.Ala60Thr) rs61751411
NM_000350.3(ABCA4):c.1798G>A (p.Asp600Asn)
NM_000350.3(ABCA4):c.179C>A (p.Ala60Glu)
NM_000350.3(ABCA4):c.1805G>C (p.Arg602Pro)
NM_000350.3(ABCA4):c.1822T>C (p.Phe608Leu) rs61752398
NM_000350.3(ABCA4):c.1844T>C (p.Val615Ala) rs2101078285
NM_000350.3(ABCA4):c.184C>A (p.Pro62Thr) rs1355238974
NM_000350.3(ABCA4):c.1850A>C (p.Gln617Pro)
NM_000350.3(ABCA4):c.1868A>G (p.Gln623Arg)
NM_000350.3(ABCA4):c.1918C>T (p.Pro640Ser)
NM_000350.3(ABCA4):c.1919C>A (p.Pro640His)
NM_000350.3(ABCA4):c.1919C>G (p.Pro640Arg)
NM_000350.3(ABCA4):c.191C>T (p.Ala64Val)
NM_000350.3(ABCA4):c.1922G>C (p.Cys641Ser) rs61749416
NM_000350.3(ABCA4):c.1934A>G (p.Asp645Gly) rs2101077991
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu) rs141823837
NM_000350.3(ABCA4):c.1982T>G (p.Leu661Arg)
NM_000350.3(ABCA4):c.2029G>A (p.Glu677Lys) rs2101075259
NM_000350.3(ABCA4):c.2029G>C (p.Glu677Gln)
NM_000350.3(ABCA4):c.2036A>T (p.Glu679Val) rs1553192420
NM_000350.3(ABCA4):c.209T>C (p.Leu70Pro) rs2101162564
NM_000350.3(ABCA4):c.2161-2A>G
NM_000350.3(ABCA4):c.223T>C (p.Cys75Arg) rs61748526
NM_000350.3(ABCA4):c.224G>A (p.Cys75Tyr)
NM_000350.3(ABCA4):c.2288C>A (p.Ala763Asp) rs1660985994
NM_000350.3(ABCA4):c.2288C>G (p.Ala763Gly)
NM_000350.3(ABCA4):c.2291G>T (p.Cys764Phe)
NM_000350.3(ABCA4):c.2323C>A (p.Pro775Thr)
NM_000350.3(ABCA4):c.2323C>T (p.Pro775Ser)
NM_000350.3(ABCA4):c.2385C>G (p.Ser795Arg) rs1660946056
NM_000350.3(ABCA4):c.2402C>T (p.Ala801Val)
NM_000350.3(ABCA4):c.2452G>A (p.Gly818Arg)
NM_000350.3(ABCA4):c.2459A>C (p.Gln820Pro) rs914542176
NM_000350.3(ABCA4):c.2491G>T (p.Gly831Trp) rs2101067779
NM_000350.3(ABCA4):c.2531T>G (p.Leu844Arg) rs1660938577
NM_000350.3(ABCA4):c.2549A>C (p.Tyr850Ser)
NM_000350.3(ABCA4):c.2549A>G (p.Tyr850Cys) rs143797418
NM_000350.3(ABCA4):c.25C>T (p.Leu9Phe)
NM_000350.3(ABCA4):c.2651_2653+2del
NM_000350.3(ABCA4):c.2653+1G>C rs1212420029
NM_000350.3(ABCA4):c.2653+2T>A
NM_000350.3(ABCA4):c.2653+2T>C
NM_000350.3(ABCA4):c.2653+2del rs766646086
NM_000350.3(ABCA4):c.2654-1G>A
NM_000350.3(ABCA4):c.2744-1G>T rs2101057505
NM_000350.3(ABCA4):c.2792T>C (p.Val931Ala)
NM_000350.3(ABCA4):c.2803G>A (p.Val935Ile)
NM_000350.3(ABCA4):c.2869C>A (p.Gln957Lys) rs398123338
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser) rs368846708
NM_000350.3(ABCA4):c.2876C>T (p.Thr959Ile) rs61752409
NM_000350.3(ABCA4):c.2897G>A (p.Gly966Glu) rs2101057095
NM_000350.3(ABCA4):c.2909C>T (p.Thr970Ile) rs1660700107
NM_000350.3(ABCA4):c.2911A>C (p.Thr971Pro) rs745825311
NM_000350.3(ABCA4):c.2914A>G (p.Thr972Ala)
NM_000350.3(ABCA4):c.2915C>T (p.Thr972Ile) rs61749451
NM_000350.3(ABCA4):c.2918+1G>A
NM_000350.3(ABCA4):c.2919-2_2925del
NM_000350.3(ABCA4):c.2930C>G (p.Thr977Arg)
NM_000350.3(ABCA4):c.2933G>C (p.Gly978Ala) rs61749453
NM_000350.3(ABCA4):c.2941C>G (p.Pro981Ala)
NM_000350.3(ABCA4):c.2941C>T (p.Pro981Ser)
NM_000350.3(ABCA4):c.302+4A>G
NM_000350.3(ABCA4):c.3066G>C (p.Glu1022Asp) rs2101051595
NM_000350.3(ABCA4):c.3134T>C (p.Met1045Thr)
NM_000350.3(ABCA4):c.3148G>A (p.Gly1050Ser)
NM_000350.3(ABCA4):c.3190+2_3190+18del
NM_000350.3(ABCA4):c.3205A>G (p.Lys1069Glu)
NM_000350.3(ABCA4):c.3223G>A (p.Ala1075Thr)
NM_000350.3(ABCA4):c.3224C>T (p.Ala1075Val)
NM_000350.3(ABCA4):c.3248T>A (p.Val1083Glu) rs1660531924
NM_000350.3(ABCA4):c.3263C>G (p.Pro1088Arg) rs1660531525
NM_000350.3(ABCA4):c.3263C>T (p.Pro1088Leu) rs1660531525
NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu) rs61752417
NM_000350.3(ABCA4):c.3278A>T (p.Asp1093Val)
NM_000350.3(ABCA4):c.3281C>A (p.Pro1094His) rs2101050573
NM_000350.3(ABCA4):c.329A>C (p.Gln110Pro) rs2101156046
NM_000350.3(ABCA4):c.3304G>A (p.Asp1102Asn) rs138641544
NM_000350.3(ABCA4):c.3328+1G>A rs1660527478
NM_000350.3(ABCA4):c.3328+2T>A rs1660527423
NM_000350.3(ABCA4):c.3352C>A (p.His1118Asn)
NM_000350.3(ABCA4):c.3354C>G (p.His1118Gln)
NM_000350.3(ABCA4):c.3412C>T (p.Leu1138Phe)
NM_000350.3(ABCA4):c.370C>G (p.Arg124Gly)
NM_000350.3(ABCA4):c.3863-2A>G
NM_000350.3(ABCA4):c.4128+2T>C
NM_000350.3(ABCA4):c.4128G>A (p.Gln1376=) rs1064797113
NM_000350.3(ABCA4):c.4219C>T (p.Pro1407Ser)
NM_000350.3(ABCA4):c.4253+1G>A rs61750139
NM_000350.3(ABCA4):c.4258G>C (p.Asp1420His)
NM_000350.3(ABCA4):c.427C>G (p.Pro143Ala)
NM_000350.3(ABCA4):c.4307A>T (p.Asn1436Ile)
NM_000350.3(ABCA4):c.4312C>A (p.Pro1438Thr)
NM_000350.3(ABCA4):c.4313C>G (p.Pro1438Arg) rs774582644
NM_000350.3(ABCA4):c.4313C>T (p.Pro1438Leu)
NM_000350.3(ABCA4):c.4318T>G (p.Phe1440Val) rs61752433
NM_000350.3(ABCA4):c.4324A>G (p.Asn1442Asp) rs2101034926
NM_000350.3(ABCA4):c.4340A>T (p.Glu1447Val) rs2101034896
NM_000350.3(ABCA4):c.4352+61G>A rs1478038032
NM_000350.3(ABCA4):c.442+2T>A rs1662504014
NM_000350.3(ABCA4):c.4468T>C (p.Cys1490Arg)
NM_000350.3(ABCA4):c.4520G>C (p.Gly1507Ala)
NM_000350.3(ABCA4):c.4531C>A (p.Pro1511Thr)
NM_000350.3(ABCA4):c.4532C>T (p.Pro1511Leu) rs886046564
NM_000350.3(ABCA4):c.4539+2065C>G
NM_000350.3(ABCA4):c.4540-65_4561delinsCGCTGTGTTCTCTGAGGCAATGAGACACCCACGTTAATTACCTTGGAACTTGAGGACTTATAAGTAGT rs2101027768
NM_000350.3(ABCA4):c.4540-8T>A rs752607057
NM_000350.3(ABCA4):c.4552A>G (p.Ser1518Gly)
NM_000350.3(ABCA4):c.4558G>C (p.Glu1520Gln)
NM_000350.3(ABCA4):c.4634+1G>C rs767312869
NM_000350.3(ABCA4):c.4670A>G (p.Tyr1557Cys) rs1401716074
NM_000350.3(ABCA4):c.470T>G (p.Leu157Trp)
NM_000350.3(ABCA4):c.5023A>C (p.Thr1675Pro) rs2101020915
NM_000350.3(ABCA4):c.5068A>G (p.Met1690Val)
NM_000350.3(ABCA4):c.5084C>T (p.Ala1695Val) rs1659842921
NM_000350.3(ABCA4):c.5086A>G (p.Ser1696Gly)
NM_000350.3(ABCA4):c.5087G>C (p.Ser1696Thr)
NM_000350.3(ABCA4):c.514G>T (p.Gly172Cys)
NM_000350.3(ABCA4):c.5330T>G (p.Met1777Arg) rs2101013876
NM_000350.3(ABCA4):c.5333T>A (p.Met1778Lys) rs748706582
NM_000350.3(ABCA4):c.5365A>G (p.Ser1789Gly)
NM_000350.3(ABCA4):c.5367C>G (p.Ser1789Arg)
NM_000350.3(ABCA4):c.5389T>C (p.Cys1797Arg)
NM_000350.3(ABCA4):c.5414A>G (p.Asn1805Ser)
NM_000350.3(ABCA4):c.5510C>T (p.Pro1837Leu) rs1571250077
NM_000350.3(ABCA4):c.5522T>A (p.Leu1841Gln)
NM_000350.3(ABCA4):c.5528G>A (p.Arg1843Gln)
NM_000350.3(ABCA4):c.5573A>G (p.Tyr1858Cys)
NM_000350.3(ABCA4):c.5584+2T>C rs2101008251
NM_000350.3(ABCA4):c.559C>T (p.Arg187Cys)
NM_000350.3(ABCA4):c.5621T>C (p.Leu1874Pro)
NM_000350.3(ABCA4):c.5642C>A (p.Ala1881Asp) rs369973540
NM_000350.3(ABCA4):c.5687T>A (p.Val1896Asp) rs61750636
NM_000350.3(ABCA4):c.570+1_570+8del
NM_000350.3(ABCA4):c.5753A>G (p.Asp1918Gly) rs1659470705
NM_000350.3(ABCA4):c.57A>T (p.Lys19Asn) rs1662934961
NM_000350.3(ABCA4):c.5819T>A (p.Leu1940Gln)
NM_000350.3(ABCA4):c.5822A>C (p.His1941Pro) rs1161119501
NM_000350.3(ABCA4):c.5828T>G (p.Leu1943Arg)
NM_000350.3(ABCA4):c.5863G>A (p.Val1955Met) rs2101004195
NM_000350.3(ABCA4):c.5898+5G>A
NM_000350.3(ABCA4):c.5898+5del rs922818626
NM_000350.3(ABCA4):c.5900G>A (p.Cys1967Tyr) rs2101003456
NM_000350.3(ABCA4):c.5908C>A (p.Leu1970Ile) rs28938473
NM_000350.3(ABCA4):c.5929G>T (p.Gly1977Cys) rs61750639
NM_000350.3(ABCA4):c.5950A>T (p.Met1984Leu) rs2101003323
NM_000350.3(ABCA4):c.5986G>A (p.Ala1996Thr) rs2101003223
NM_000350.3(ABCA4):c.6006-2A>G
NM_000350.3(ABCA4):c.6104T>C (p.Leu2035Pro) rs61750642
NM_000350.3(ABCA4):c.614G>A (p.Cys205Tyr)
NM_000350.3(ABCA4):c.614G>T (p.Cys205Phe) rs1662214905
NM_000350.3(ABCA4):c.6173T>A (p.Leu2058Gln)
NM_000350.3(ABCA4):c.6178C>G (p.Leu2060Val)
NM_000350.3(ABCA4):c.6179T>C (p.Leu2060Pro)
NM_000350.3(ABCA4):c.6191C>G (p.Ala2064Gly)
NM_000350.3(ABCA4):c.619G>A (p.Glu207Lys) rs147807073
NM_000350.3(ABCA4):c.6214A>G (p.Ser2072Gly)
NM_000350.3(ABCA4):c.6230G>T (p.Arg2077Leu)
NM_000350.3(ABCA4):c.6245C>T (p.Ala2082Val) rs1659195030
NM_000350.3(ABCA4):c.6288G>C (p.Glu2096Asp) rs2100994099
NM_000350.3(ABCA4):c.6289C>A (p.Pro2097Thr)
NM_000350.3(ABCA4):c.6319C>A (p.Arg2107Ser) rs2297669
NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro) rs2100993895
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn) rs1571242070
NM_000350.3(ABCA4):c.6397T>C (p.Cys2133Arg)
NM_000350.3(ABCA4):c.6425T>A (p.Ile2142Asn)
NM_000350.3(ABCA4):c.6437G>A (p.Gly2146Asp) rs61753044
NM_000350.3(ABCA4):c.6446G>C (p.Arg2149Pro) rs61750655
NM_000350.3(ABCA4):c.6446G>T (p.Arg2149Leu) rs61750655
NM_000350.3(ABCA4):c.66+1G>C
NM_000350.3(ABCA4):c.66+1del rs1662934446
NM_000350.3(ABCA4):c.66+2T>C
NM_000350.3(ABCA4):c.6647C>A (p.Ala2216Glu)
NM_000350.3(ABCA4):c.6787C>G (p.Arg2263Gly)
NM_000350.3(ABCA4):c.6788G>A (p.Arg2263Gln) rs281865407
NM_000350.3(ABCA4):c.689G>A (p.Cys230Tyr)
NM_000350.3(ABCA4):c.70C>G (p.Arg24Gly) rs62645942
NM_000350.3(ABCA4):c.859-1G>C rs2101107143
NM_000350.3(ABCA4):c.91T>C (p.Trp31Arg)
NM_000350.3(ABCA4):c.926C>A (p.Pro309Gln)
NM_000350.3(ABCA4):c.982G>A (p.Glu328Lys) rs61751418

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