ClinVar Miner

List of variants reported as benign for age-related macular degeneration by Genome-Nilou Lab

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 163
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HGVS dbSNP gnomAD frequency
NM_000064.4(C3):c.1686+78C>T rs189367 0.99827
NM_000350.3(ABCA4):c.141A>G (p.Pro47=) rs4847281 0.98746
NM_000064.4(C3):c.3646+98A>G rs237554 0.87336
NM_000064.4(C3):c.4546+58A>G rs344555 0.80027
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=) rs1762114 0.78856
NM_000064.4(C3):c.2864-20A>G rs2287847 0.76762
NM_000064.4(C3):c.2745T>C (p.Ala915=) rs423490 0.76736
NM_000064.4(C3):c.2246-8C>T rs406514 0.76696
NM_006329.4(FBLN5):c.945T>C (p.Ile315=) rs2430347 0.76291
NM_000064.4(C3):c.2950+48T>C rs2287848 0.70105
NM_000064.4(C3):c.2863+47G>C rs2287846 0.67951
NM_000064.4(C3):c.2797-21C>A rs2355315 0.67336
NM_000350.3(ABCA4):c.5585-70C>T rs537831 0.65778
NM_000064.4(C3):c.2863+7C>T rs2287845 0.65549
NM_000064.4(C3):c.2421G>C (p.Val807=) rs428453 0.65502
NM_000064.4(C3):c.2355-23A>G rs432823 0.65496
NM_000064.4(C3):c.2440+96T>C rs433594 0.65473
NM_000064.4(C3):c.2797-29C>T rs2253756 0.65339
NM_031935.3(HMCN1):c.11684-13G>A rs10157742 0.64202
NM_000186.4(CFH):c.1204C>T (p.His402Tyr) rs1061170 0.63625
NM_031935.3(HMCN1):c.8885-7A>G rs6425017 0.63553
NM_031935.3(HMCN1):c.7371C>T (p.Cys2457=) rs7522627 0.63057
NM_000350.3(ABCA4):c.4773+48C>T rs472908 0.62724
NM_000186.4(CFH):c.921A>C (p.Ala307=) rs1061147 0.61990
NM_031935.3(HMCN1):c.8678A>G (p.Glu2893Gly) rs10798035 0.56453
NM_000350.3(ABCA4):c.4128+156C>T rs4147841 0.56024
NM_031935.3(HMCN1):c.7253T>C (p.Ile2418Thr) rs12129650 0.53397
NM_031935.3(HMCN1):c.12230-7A>C rs2057388 0.52362
NM_000064.4(C3):c.4457-56A>G rs2277983 0.50710
NM_000064.4(C3):c.4896C>T (p.Pro1632=) rs17030 0.50596
NM_000064.4(C3):c.4457-4G>A rs2277984 0.49417
NM_000350.3(ABCA4):c.302+26A>G rs2297634 0.48752
NM_000350.3(ABCA4):c.1240-14C>T rs4147830 0.47169
NM_000186.4(CFH):c.1419G>A (p.Ala473=) rs2274700 0.43407
NM_000186.4(CFH):c.59-36C>T rs551397 0.40527
NM_000186.4(CFH):c.184G>A (p.Val62Ile) rs800292 0.40446
NM_006017.3(PROM1):c.303+6G>A rs2078622 0.39397
NM_031935.3(HMCN1):c.13310A>G (p.Gln4437Arg) rs10911825 0.39391
NM_000064.4(C3):c.1692G>A (p.Val564=) rs2230204 0.36996
NM_031935.3(HMCN1):c.4857T>C (p.His1619=) rs6665753 0.35166
NM_006017.3(PROM1):c.2374-6T>C rs6449209 0.34571
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_006017.3(PROM1):c.2582+43C>T rs11725522 0.22440
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_000350.3(ABCA4):c.5715-25A>C rs4147856 0.20432
NM_006017.3(PROM1):c.2281-6C>G rs3815344 0.20394
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_031935.3(HMCN1):c.3166A>G (p.Thr1056Ala) rs7539719 0.16805
NM_000064.4(C3):c.912G>A (p.Arg304=) rs2230201 0.15982
NM_022726.4(ELOVL4):c.895A>G (p.Met299Val) rs3812153 0.15428
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp) rs1065489 0.14779
NM_000186.4(CFH):c.2016A>G (p.Gln672=) rs3753396 0.14639
NM_000064.4(C3):c.1836G>A (p.Thr612=) rs2230205 0.13947
NM_031935.3(HMCN1):c.14266+17G>C rs17531405 0.12803
NM_006017.3(PROM1):c.1003-35A>C rs2286458 0.09908
NM_031935.3(HMCN1):c.15260A>T (p.Asp5087Val) rs41317507 0.08845
NM_000186.4(CFH):c.*178T>A rs488738 0.08528
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu) rs534399 0.08522
NM_031935.3(HMCN1):c.14158G>A (p.Ala4720Thr) rs6693069 0.06856
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile) rs515299 0.06393
NM_000186.3(CFH):c.-195T>C rs35836460 0.04685
NM_031935.3(HMCN1):c.9516A>T (p.Thr3172=) rs61745374 0.04046
NM_000186.4(CFH):c.1160-15T>C rs34815383 0.03666
NM_031935.3(HMCN1):c.2739G>C (p.Leu913=) rs35576281 0.03312
NM_031935.3(HMCN1):c.8166T>C (p.Asn2722=) rs77026548 0.03129
NM_031935.3(HMCN1):c.3020A>T (p.Asn1007Ile) rs34460141 0.03127
NM_031935.3(HMCN1):c.4439C>T (p.Thr1480Ile) rs58293393 0.02671
NM_031935.3(HMCN1):c.11849-8A>C rs78780269 0.02456
NM_031935.3(HMCN1):c.3861A>G (p.Pro1287=) rs74134272 0.02399
NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr) rs35343172 0.02118
NM_000186.4(CFH):c.*98C>T rs35742764 0.01872
NM_031935.3(HMCN1):c.57C>T (p.Ser19=) rs114170176 0.01714
NM_000186.4(CFH):c.1652T>C (p.Ile551Thr) rs35453854 0.01591
NM_000186.4(CFH):c.477T>C (p.Ser159=) rs34940854 0.01586
NM_000186.4(CFH):c.245-7G>A rs35814900 0.01519
NM_031935.3(HMCN1):c.6981G>A (p.Met2327Ile) rs12067376 0.01472
NM_031935.3(HMCN1):c.13968C>T (p.Ser4656=) rs3737942 0.01470
NM_000186.4(CFH):c.1428A>G (p.Gln476=) rs34399588 0.01440
NM_000186.4(CFH):c.2236+8T>A rs7537967 0.01429
NM_031935.3(HMCN1):c.4269A>G (p.Pro1423=) rs12087462 0.01418
NM_031935.3(HMCN1):c.12987C>T (p.Thr4329=) rs41317491 0.01364
NM_031935.3(HMCN1):c.10536T>C (p.Ala3512=) rs72720910 0.01345
NM_031935.3(HMCN1):c.13055A>G (p.Lys4352Arg) rs78541701 0.01250
NM_031935.3(HMCN1):c.13313-4G>A rs41317497 0.01218
NM_031935.3(HMCN1):c.15531T>C (p.Cys5177=) rs16824983 0.01216
NM_031935.3(HMCN1):c.3550G>T (p.Val1184Phe) rs12239296 0.01178
NM_031935.3(HMCN1):c.6908T>C (p.Ile2303Thr) rs149550536 0.01074
NM_031935.3(HMCN1):c.7511C>A (p.Thr2504Lys) rs76748242 0.01024
NM_031935.3(HMCN1):c.12250C>T (p.His4084Tyr) rs41317489 0.00992
NM_031935.3(HMCN1):c.8509C>T (p.Arg2837Trp) rs74136012 0.00984
NM_031935.3(HMCN1):c.15822T>C (p.Asp5274=) rs57832192 0.00905
NM_031935.3(HMCN1):c.13040-3C>T rs41317493 0.00895
NM_031935.3(HMCN1):c.9942G>A (p.Thr3314=) rs75687673 0.00845
NM_031935.3(HMCN1):c.9397A>G (p.Ile3133Val) rs79178888 0.00827
NM_000186.4(CFH):c.1159+19T>G rs35695425 0.00756
NM_000186.4(CFH):c.3102T>C (p.Asn1034=) rs34594237 0.00750
NM_031935.3(HMCN1):c.4998T>C (p.Ala1666=) rs115874887 0.00678
NM_031935.3(HMCN1):c.6029-11G>T rs10911802 0.00678
NM_031935.3(HMCN1):c.6029-4T>C rs10911803 0.00676
NM_031935.3(HMCN1):c.8757T>C (p.His2919=) rs148188970 0.00653
NM_031935.3(HMCN1):c.15732C>G (p.His5244Gln) rs75161007 0.00507
NM_031935.3(HMCN1):c.8789T>C (p.Ile2930Thr) rs114135070 0.00480
NM_031935.3(HMCN1):c.13950G>C (p.Gln4650His) rs74136049 0.00474
NM_031935.3(HMCN1):c.15063C>T (p.Tyr5021=) rs114051074 0.00463
NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=) rs138332626 0.00444
NM_031935.3(HMCN1):c.11556A>T (p.Ser3852=) rs144346158 0.00443
NM_031935.3(HMCN1):c.7652T>C (p.Leu2551Ser) rs116300191 0.00436
NM_031935.3(HMCN1):c.8094G>A (p.Ala2698=) rs143866315 0.00404
NM_031935.3(HMCN1):c.11938G>A (p.Val3980Met) rs139870667 0.00379
NM_031935.3(HMCN1):c.12571G>A (p.Val4191Ile) rs141096306 0.00371
NM_031935.3(HMCN1):c.1152A>G (p.Lys384=) rs151284138 0.00356
NM_031935.3(HMCN1):c.7515G>T (p.Gly2505=) rs41317479 0.00347
NM_031935.3(HMCN1):c.114G>T (p.Gly38=) rs115169621 0.00337
NM_031935.3(HMCN1):c.7494G>A (p.Thr2498=) rs148467349 0.00333
NM_031935.3(HMCN1):c.16318G>A (p.Asp5440Asn) rs74136061 0.00324
NM_031935.3(HMCN1):c.12771T>C (p.His4257=) rs115171363 0.00295
NM_031935.3(HMCN1):c.16623C>G (p.Leu5541=) rs151256828 0.00293
NM_031935.3(HMCN1):c.6708A>G (p.Pro2236=) rs144191448 0.00272
NM_000186.4(CFH):c.428-14T>C rs184188486 0.00271
NM_000186.4(CFH):c.3150T>C (p.Asn1050=) rs113347629 0.00269
NM_031935.3(HMCN1):c.13313-5C>T rs184095385 0.00253
NM_031935.3(HMCN1):c.4475+9C>A rs111694556 0.00229
NM_031935.3(HMCN1):c.5070A>T (p.Ile1690=) rs141581919 0.00222
NM_000186.4(CFH):c.3207T>C (p.Ser1069=) rs62641697 0.00219
NM_031935.3(HMCN1):c.4782A>G (p.Ala1594=) rs78613732 0.00210
NM_031935.3(HMCN1):c.6063G>A (p.Val2021=) rs144776594 0.00191
NM_031935.3(HMCN1):c.8103T>C (p.Ile2701=) rs143271285 0.00156
NM_000186.4(CFH):c.1935G>T (p.Thr645=) rs56035657 0.00105
NM_031935.3(HMCN1):c.15393C>T (p.Ser5131=) rs142864872 0.00101
NM_031935.3(HMCN1):c.9546G>A (p.Thr3182=) rs140049629 0.00100
NM_031935.3(HMCN1):c.2212+8T>G rs183165464 0.00095
NM_031935.3(HMCN1):c.4515C>G (p.Asp1505Glu) rs146532107 0.00091
NM_031935.3(HMCN1):c.5851+10del rs375820274 0.00091
NM_031935.3(HMCN1):c.15440-13C>T rs12034495 0.00081
NM_031935.3(HMCN1):c.16731T>C (p.Thr5577=) rs146867591 0.00070
NM_031935.3(HMCN1):c.5888G>T (p.Gly1963Val) rs144649977 0.00057
NM_000186.4(CFH):c.3133+8G>T rs142718541 0.00036
NM_031935.3(HMCN1):c.14562C>T (p.Pro4854=) rs138776748 0.00033
NM_031935.3(HMCN1):c.10989+5A>G rs200045422 0.00029
NM_031935.3(HMCN1):c.36G>C (p.Leu12=) rs76631922 0.00020
NM_031935.3(HMCN1):c.861G>A (p.Val287=) rs138455877 0.00019
NM_000186.4(CFH):c.350+9T>C rs201686629 0.00007
NM_031935.3(HMCN1):c.14076C>T (p.Cys4692=) rs144621380 0.00006
NM_000186.4(CFH):c.807T>C (p.Asn269=) rs757654697 0.00004
NM_031935.3(HMCN1):c.15561G>T (p.Gly5187=) rs373603132 0.00002
NM_000064.4(C3):c.1686+48TC[8] rs112132860
NM_000064.4(C3):c.2440+116C>G rs408290
NM_000064.4(C3):c.2441-24C>A rs366510
NM_000186.4(CFH):c.245-10_245-9dup rs35507625
NM_000186.4(CFH):c.245-11_245-9dup rs35507625
NM_000186.4(CFH):c.245-9del rs35507625
NM_000186.4(CFH):c.245-9dup rs35507625
NM_000186.4(CFH):c.3138C>T (p.Thr1046=) rs61822181
NM_000186.4(CFH):c.3427C>G (p.Gln1143Glu) rs15809
NM_000186.4(CFH):c.350+15C>T rs190197472
NM_000350.3(ABCA4):c.1240-65del rs3215952
NM_000350.3(ABCA4):c.4352+54A>G rs547806
NM_000350.3(ABCA4):c.4774-17_4774-16del rs55860151
NM_000350.3(ABCA4):c.6006-16G>A rs4147863
NM_031935.3(HMCN1):c.12906C>T (p.Ala4302=) rs144437187
NM_031935.3(HMCN1):c.4910-14_4910-13del rs200156765

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