ClinVar Miner

List of variants in gene ABCA4 reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 275
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.570+1888A>G rs577059 0.99685
NM_000350.3(ABCA4):c.141A>G (p.Pro47=) rs4847281 0.98746
NM_000350.3(ABCA4):c.3050+538_3050+541del rs146620420 0.92164
NM_000350.3(ABCA4):c.5836-167C>T rs1191234 0.86731
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=) rs1762114 0.78856
NM_000350.3(ABCA4):c.769-86A>G rs574741 0.73478
NM_000350.3(ABCA4):c.2160+470T>C rs521538 0.70254
NM_000350.3(ABCA4):c.5585-70C>T rs537831 0.65778
NM_000350.3(ABCA4):c.5313-193A>G rs2275034 0.60161
NM_000350.3(ABCA4):c.4352+168A>G rs4147843 0.56299
NM_000350.3(ABCA4):c.4540-2169A>G rs3945204 0.56197
NM_000350.3(ABCA4):c.4128+156C>T rs4147841 0.56024
NM_000350.3(ABCA4):c.302+26A>G rs2297634 0.48752
NM_000350.3(ABCA4):c.442+80G>T rs11165073 0.48353
NM_000350.3(ABCA4):c.5313-283T>G rs3818778 0.48248
NM_000350.3(ABCA4):c.1240-14C>T rs4147830 0.47169
NM_000350.3(ABCA4):c.4353-220G>A rs4147846 0.46711
NM_000350.3(ABCA4):c.4353-300C>T rs4147844 0.42281
NM_000350.3(ABCA4):c.4353-230G>A rs4147845 0.41894
NM_000350.3(ABCA4):c.2744-244G>A rs544830 0.41858
NM_000350.3(ABCA4):c.66+208G>A rs3789451 0.41216
NM_000350.3(ABCA4):c.5460+62G>A rs2275033 0.40111
NM_000350.3(ABCA4):c.570+80T>C rs4847278 0.36670
NM_000350.3(ABCA4):c.2653+204T>G rs1191231 0.35972
NM_000350.3(ABCA4):c.3051-195C>A rs4147839 0.31799
NM_000350.3(ABCA4):c.5197-186T>C rs915201 0.31452
NM_000350.3(ABCA4):c.768+434A>G rs12088309 0.31451
NM_000350.3(ABCA4):c.5312+304A>G rs914957 0.31407
NM_000350.3(ABCA4):c.443-124A>G rs2297636 0.30085
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=) rs1801555 0.27862
NM_000350.3(ABCA4):c.1100-143G>A rs2275035 0.27633
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_000350.3(ABCA4):c.6816+127C>T rs4147872 0.25443
NM_000350.3(ABCA4):c.769-264T>C rs572960 0.24162
NM_000350.3(ABCA4):c.769-32T>C rs526016 0.24162
NM_000350.3(ABCA4):c.5312+227T>C rs914958 0.23862
NM_000350.3(ABCA4):c.5312+290_5312+291insT rs4147895 0.23836
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_000350.3(ABCA4):c.5714+152del rs112614086 0.23806
NM_000350.3(ABCA4):c.5714+321G>A rs2065712 0.23789
NM_000350.3(ABCA4):c.5461-337G>A rs2893264 0.23768
NM_000350.3(ABCA4):c.5584+123G>A rs2065711 0.23742
NM_000350.3(ABCA4):c.1761-54G>A rs4147833 0.23727
NM_000350.3(ABCA4):c.5461-51del rs4147899 0.23674
NM_000350.3(ABCA4):c.160+212G>T rs7524869 0.22817
NM_000350.3(ABCA4):c.161-288G>A rs1889404 0.20570
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_000350.3(ABCA4):c.5715-25A>C rs4147856 0.20432
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_000350.3(ABCA4):c.5836-43C>A rs2275031 0.19847
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_000350.3(ABCA4):c.5898+234G>A rs3789385 0.19599
NM_000350.3(ABCA4):c.5898+186T>C rs3789386 0.19581
NM_000350.3(ABCA4):c.5835+122T>G rs2275032 0.19529
NM_000350.3(ABCA4):c.5899-183G>A rs3789384 0.19516
NM_000350.3(ABCA4):c.6005+281C>T rs7531001 0.19503
NM_000350.3(ABCA4):c.6005+328A>G rs4147858 0.19392
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_000350.3(ABCA4):c.302+330T>C rs4147810 0.16066
NM_000350.3(ABCA4):c.442+213T>C rs12093963 0.15909
NM_000350.3(ABCA4):c.302+101C>T rs2297635 0.15778
NM_000350.3(ABCA4):c.161-327C>A rs3789438 0.15225
NM_000350.3(ABCA4):c.6730-3T>C rs1800717 0.15096
NM_000350.3(ABCA4):c.6816+28G>C rs6666559 0.15041
NM_000350.3(ABCA4):c.5019-285A>G rs56031604 0.14334
NM_000350.3(ABCA4):c.6148-686G>A rs74102057 0.13430
NM_000350.3(ABCA4):c.6148-492T>C rs11804211 0.13338
NM_000350.3(ABCA4):c.6148-655T>C rs11804569 0.13336
NM_000350.3(ABCA4):c.6148-215G>A rs17110768 0.13322
NM_000350.3(ABCA4):c.6148-809C>T rs74102061 0.13322
NM_000350.3(ABCA4):c.6148-745A>G rs74102058 0.13320
NM_000350.3(ABCA4):c.6148-297C>T rs11805627 0.13318
NM_000350.3(ABCA4):c.6479+269G>A rs4147867 0.13316
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359 0.13311
NM_000350.3(ABCA4):c.6148-184A>T rs74102054 0.13310
NM_000350.3(ABCA4):c.6148-794C>T rs74102060 0.13310
NM_000350.3(ABCA4):c.6479+283T>C rs12070278 0.13308
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_000350.3(ABCA4):c.6480-102A>G rs10874826 0.13305
NM_000350.3(ABCA4):c.6480-101G>A rs10874825 0.13304
NM_000350.3(ABCA4):c.6148-777T>C rs74102059 0.13296
NM_000350.3(ABCA4):c.6729+312C>T rs17110743 0.12822
NM_000350.3(ABCA4):c.5715-300T>C rs55694362 0.11743
NM_000350.3(ABCA4):c.5715-220C>G rs56166161 0.11697
NM_000350.3(ABCA4):c.66+81A>G rs74102103 0.11519
NM_000350.3(ABCA4):c.4128+201C>T rs7543524 0.11502
NM_000350.3(ABCA4):c.5585-120G>A rs7519657 0.10817
NM_000350.3(ABCA4):c.5019-176T>C rs17110850 0.10675
NM_000350.3(ABCA4):c.4253+106A>G rs56253197 0.10498
NM_000350.3(ABCA4):c.6147+219T>A rs72956573 0.10128
NM_000350.3(ABCA4):c.6729+51C>G rs7518454 0.09936
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831 0.09402
NM_000350.3(ABCA4):c.6147+187G>C rs7533425 0.09227
NM_000350.3(ABCA4):c.570+1887C>T rs72725196 0.08930
NM_000350.3(ABCA4):c.4539+1770C>A rs17110885 0.08679
NM_000350.3(ABCA4):c.*372A>G rs3747961 0.07805
NM_000350.3(ABCA4):c.6282+176C>T rs4147864 0.07634
NM_000350.3(ABCA4):c.6817-202T>A rs17110718 0.06805
NM_000350.3(ABCA4):c.5313-109A>G rs56307710 0.06488
NM_000350.3(ABCA4):c.2918+115C>T rs17392369 0.06397
NM_000350.3(ABCA4):c.2160+49T>C rs56197337 0.05471
NM_000350.3(ABCA4):c.571-1949A>C rs3789423 0.05330
NM_000350.3(ABCA4):c.570+2008C>T rs3789424 0.05323
NM_000350.3(ABCA4):c.570+1697del rs3842498 0.05214
NM_000350.3(ABCA4):c.6006-85G>A rs2275028 0.05125
NM_000350.3(ABCA4):c.5461-284C>T rs4147855 0.05119
NM_000350.3(ABCA4):c.2654-47T>C rs12095320 0.05113
NM_000350.3(ABCA4):c.2161-139T>C rs17110958 0.05045
NM_000350.3(ABCA4):c.2744-262C>G rs72725166 0.05026
NM_000350.3(ABCA4):c.5196+1015A>G rs17389488 0.04989
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04939
NM_000350.3(ABCA4):c.3862+215G>A rs2001963 0.04935
NM_000350.3(ABCA4):c.2654-48G>C rs12069723 0.04589
NM_000350.3(ABCA4):c.67-150G>A rs72960501 0.04570
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_000350.3(ABCA4):c.66+234A>G rs3789450 0.03926
NM_000350.3(ABCA4):c.67-141G>A rs74104524 0.03834
NM_000350.3(ABCA4):c.160+278G>A rs7524782 0.03667
NC_000001.11:g.94121334C>A rs11806223 0.03604
NC_000001.11:g.94121288G>A rs11802887 0.03601
NM_000350.3(ABCA4):c.4254-38G>A rs17110898 0.03389
NM_000350.3(ABCA4):c.4539+2029C>G rs17110883 0.03299
NM_000350.3(ABCA4):c.4539+1702A>G rs17110887 0.03263
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141 0.03191
NM_000350.3(ABCA4):c.2587+216C>A rs56375042 0.03127
NM_000350.3(ABCA4):c.3050+328A>G rs60221131 0.03043
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_000350.3(ABCA4):c.3329-34A>G rs11810336 0.02890
NM_000350.3(ABCA4):c.3190+101G>A rs79871431 0.02596
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072 0.02574
NM_000350.3(ABCA4):c.6817-85C>T rs75999881 0.02570
NM_000350.3(ABCA4):c.1100-186T>G rs17111014 0.02532
NM_000350.3(ABCA4):c.1099+123T>C rs6682366 0.02525
NM_000350.3(ABCA4):c.3050+170T>C rs17110925 0.02410
NM_000350.3(ABCA4):c.4129-278G>T rs78752241 0.02265
NM_000350.3(ABCA4):c.3863-87C>A rs6690840 0.02185
NM_000350.3(ABCA4):c.5197-95T>C rs72958426 0.02160
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129 0.02065
NM_000350.3(ABCA4):c.6148-389G>A rs17110776 0.02027
NM_000350.3(ABCA4):c.5460+222C>G rs72958420 0.01956
NM_000350.3(ABCA4):c.2744-124G>A rs77305056 0.01910
NM_000350.3(ABCA4):c.4129-119C>T rs74102090 0.01660
NM_000350.3(ABCA4):c.4540-2095G>C rs79767440 0.01616
NM_000350.3(ABCA4):c.*134G>A rs76201551 0.01542
NM_000350.3(ABCA4):c.2964C>T (p.Leu988=) rs61754034 0.01415
NM_000350.3(ABCA4):c.141= (p.Pro47=) rs4847281 0.01254
NM_000350.3(ABCA4):c.1761-50G>A rs61754022 0.01220
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555 0.01028
NM_000350.3(ABCA4):c.3051-14T>A rs17110922 0.01008
NM_000350.3(ABCA4):c.6729+21C>T rs1800699 0.00981
NM_000350.3(ABCA4):c.570+20C>T rs78637152 0.00569
NM_000350.3(ABCA4):c.302+20C>T rs61753050 0.00508
NM_000350.3(ABCA4):c.1761-37G>A rs61754021 0.00491
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417 0.00491
NM_000350.3(ABCA4):c.*136G>A rs55665437 0.00448
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) rs61749435 0.00385
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_000350.3(ABCA4):c.768+62C>T rs17111045 0.00354
NM_000350.3(ABCA4):c.4352+14C>T rs75359153 0.00325
NM_000350.3(ABCA4):c.1878G>A (p.Ala626=) rs61754023 0.00324
NM_000350.3(ABCA4):c.4503G>C (p.Glu1501Asp) rs143272984 0.00321
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_000350.3(ABCA4):c.237T>C (p.Asn79=) rs149381884 0.00306
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174 0.00246
NM_000350.3(ABCA4):c.1653G>A (p.Val551=) rs61753963 0.00243
NM_000350.3(ABCA4):c.672G>A (p.Thr224=) rs140972064 0.00214
NM_000350.3(ABCA4):c.5196+1159G>A rs80110715 0.00191
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=) rs61748519 0.00185
NM_000350.3(ABCA4):c.2588-12C>G rs61751396 0.00183
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) rs61752395 0.00176
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala) rs61754030 0.00174
NM_000350.3(ABCA4):c.4253+13G>A rs145766145 0.00168
NM_000350.3(ABCA4):c.-92C>T rs200102393 0.00161
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549 0.00160
NM_000350.3(ABCA4):c.4128+11C>T rs202102586 0.00148
NM_000350.3(ABCA4):c.3191-20C>T rs61754036 0.00130
NM_000350.3(ABCA4):c.3328+18G>A rs187354107 0.00129
NM_000350.3(ABCA4):c.-34C>T rs375186173 0.00112
NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=) rs141004967 0.00112
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919 0.00100
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_000350.3(ABCA4):c.4129-17C>T rs200194007 0.00088
NM_000350.3(ABCA4):c.5307G>C (p.Leu1769=) rs146443426 0.00079
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=) rs117400594 0.00078
NM_000350.3(ABCA4):c.-94G>T rs113514871 0.00076
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019 0.00076
NM_000350.3(ABCA4):c.3297A>C (p.Ser1099=) rs148917659 0.00073
NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys) rs75267647 0.00066
NM_000350.3(ABCA4):c.1356+11_1356+12insG rs1557794244 0.00065
NM_000350.3(ABCA4):c.3050+16A>G rs111546154 0.00055
NM_000350.3(ABCA4):c.981C>T (p.Pro327=) rs61753057 0.00054
NM_000350.3(ABCA4):c.6730-19G>A rs375179475 0.00052
NM_000350.3(ABCA4):c.5196+20G>A rs55715124 0.00045
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171 0.00037
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=) rs143263315 0.00037
NM_000350.3(ABCA4):c.2744-5C>T rs76305791 0.00028
NM_000350.3(ABCA4):c.2383-13C>T rs56026711 0.00026
NM_000350.3(ABCA4):c.4128+16G>A rs61783968 0.00018
NM_000350.3(ABCA4):c.3213G>A (p.Ser1071=) rs141233353 0.00016
NM_000350.3(ABCA4):c.5312+8G>A rs187953772 0.00016
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=) rs201602424 0.00014
NM_000350.3(ABCA4):c.2496C>T (p.Asp832=) rs142186046 0.00011
NM_000350.3(ABCA4):c.4125G>A (p.Ala1375=) rs776180321 0.00009
NM_000350.3(ABCA4):c.1818C>T (p.Gly606=) rs377164833 0.00006
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=) rs180921875 0.00006
NM_000350.3(ABCA4):c.5241C>T (p.Ile1747=) rs548431469 0.00004
NM_000350.3(ABCA4):c.933C>T (p.Thr311=) rs61753056 0.00003
NM_000350.3(ABCA4):c.3867C>T (p.Gly1289=) rs573418899 0.00002
NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr) rs142673376 0.00002
NM_000350.3(ABCA4):c.1365G>A (p.Leu455=) rs759398868 0.00001
NM_000350.3(ABCA4):c.2884C>T (p.Leu962=) rs774598114 0.00001
NM_000350.3(ABCA4):c.4407C>T (p.Asn1469=) rs750526487 0.00001
NM_000350.3(ABCA4):c.6495T>C (p.Tyr2165=) rs200106061 0.00001
NM_000350.3(ABCA4):c.769-3C>T rs368010652 0.00001
NM_000350.3(ABCA4):c.873G>A (p.Pro291=) rs61753054 0.00001
NM_000350.2:c.+10C>A
NM_000350.3(ABCA4):c.-41G>T rs61784004
NM_000350.3(ABCA4):c.1100-14T>C rs61753059
NM_000350.3(ABCA4):c.1239+49TG[13] rs4147886
NM_000350.3(ABCA4):c.1240-65del rs3215952
NM_000350.3(ABCA4):c.1248A>C (p.Ser416=) rs61753960
NM_000350.3(ABCA4):c.1356+3_1356+4insG rs2101102814
NM_000350.3(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.3(ABCA4):c.1356+5dup rs281865386
NM_000350.3(ABCA4):c.1356+6_1356+7insC rs886046568
NM_000350.3(ABCA4):c.1554+19del
NM_000350.3(ABCA4):c.161-275G>A rs1889405
NM_000350.3(ABCA4):c.229G>A (p.Val77Met) rs1662603511
NM_000350.3(ABCA4):c.234C>T (p.Asn78=) rs61753049
NM_000350.3(ABCA4):c.2588-3del
NM_000350.3(ABCA4):c.2744-9del
NM_000350.3(ABCA4):c.2744-9dup rs763016325
NM_000350.3(ABCA4):c.303-71del rs4147877
NM_000350.3(ABCA4):c.3051-15G>T rs200223777
NM_000350.3(ABCA4):c.3051-304dup rs4147890
NM_000350.3(ABCA4):c.3329-112del rs4147891
NM_000350.3(ABCA4):c.3522+10T>G rs763137165
NM_000350.3(ABCA4):c.384G>A (p.Glu128=) rs2101155846
NM_000350.3(ABCA4):c.4203C>A (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.4254-171C>T rs2297671
NM_000350.3(ABCA4):c.4352+32A>G rs75424561
NM_000350.3(ABCA4):c.4352+54A>G rs547806
NM_000350.3(ABCA4):c.443-241del rs4147878
NM_000350.3(ABCA4):c.443-244C>G rs58269697
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=) rs138475920
NM_000350.3(ABCA4):c.4668-15C>T rs61754054
NM_000350.3(ABCA4):c.468C>T (p.Ile156=) rs148091207
NM_000350.3(ABCA4):c.5196+1078del rs3838275
NM_000350.3(ABCA4):c.5196+1364GT[6] rs3838274
NM_000350.3(ABCA4):c.5460+168_5460+179del rs143222183
NM_000350.3(ABCA4):c.5461-291A>C rs565155
NM_000350.3(ABCA4):c.5461-50dup rs281865391
NM_000350.3(ABCA4):c.5640T>A (p.Phe1880Leu) rs374811709
NM_000350.3(ABCA4):c.5680C>T (p.Leu1894=) rs1357586196
NM_000350.3(ABCA4):c.5843_5844inv (p.Pro1948Leu)
NM_000350.3(ABCA4):c.6005+156_6005+160del rs3831252
NM_000350.3(ABCA4):c.6005+330del rs3838272
NM_000350.3(ABCA4):c.6006-16G>A rs4147863
NM_000350.3(ABCA4):c.6006-8del
NM_000350.3(ABCA4):c.6147+8del
NM_000350.3(ABCA4):c.6148-242C>G rs11805625
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.6282+193C>T rs4147865
NM_000350.3(ABCA4):c.6283-347G>A rs12086793
NM_000350.3(ABCA4):c.6283-3del
NM_000350.3(ABCA4):c.6479+238A>G rs4147866
NM_000350.3(ABCA4):c.6480-129G>C rs10874827
NM_000350.3(ABCA4):c.67-11T>G rs1662657188
NM_000350.3(ABCA4):c.67-5del
NM_000350.3(ABCA4):c.6730-27C>G rs61748522
NM_000350.3(ABCA4):c.729T>C (p.Thr243=) rs2101135548
NM_000350.3(ABCA4):c.768+12dup
NM_000350.3(ABCA4):c.859-11C>T rs61753053

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