ClinVar Miner

List of variants reported as benign for age-related macular degeneration by Illumina Laboratory Services, Illumina

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 223
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp) rs6471482 0.88912
NM_001319074.4(RAX2):c.*866C>T rs917545 0.78969
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.2863+7C>T rs2287845 0.65549
NM_000064.4(C3):c.2421G>C (p.Val807=) rs428453 0.65502
NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro) rs4961206 0.64246
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_000186.4(CFH):c.921A>C (p.Ala307=) rs1061147 0.61990
NM_019098.4(CNGB3):c.*1639C>A rs990192 0.58635
NM_031935.3(HMCN1):c.8678A>G (p.Glu2893Gly) rs10798035 0.56453
NM_031935.3(HMCN1):c.7253T>C (p.Ile2418Thr) rs12129650 0.53397
NM_006017.3(PROM1):c.*1078A>G rs3130 0.53265
NM_031935.3(HMCN1):c.12230-7A>C rs2057388 0.52362
NM_000064.4(C3):c.4896C>T (p.Pro1632=) rs17030 0.50596
NM_000064.4(C3):c.4457-4G>A rs2277984 0.49417
NM_000186.4(CFH):c.1419G>A (p.Ala473=) rs2274700 0.43407
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_006329.4(FBLN5):c.-414C>T rs7149187 0.26340
NM_001319074.4(RAX2):c.*1366C>G rs6510769 0.25783
NM_031935.3(HMCN1):c.*674C>T rs1056456 0.24195
NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser) rs10490924 0.22973
NM_006017.3(PROM1):c.*667A>C rs2240688 0.21643
NM_001319074.4(RAX2):c.*785G>A rs917546 0.20551
NM_006017.3(PROM1):c.2281-6C>G rs3815344 0.20394
NM_031935.3(HMCN1):c.3166A>G (p.Thr1056Ala) rs7539719 0.16805
NM_001319074.4(RAX2):c.*720G>A rs917547 0.16734
NM_000064.4(C3):c.912G>A (p.Arg304=) rs2230201 0.15982
NM_001319074.4(RAX2):c.*1149C>T rs1860322 0.15969
NM_022726.4(ELOVL4):c.895A>G (p.Met299Val) rs3812153 0.15428
NM_022726.4(ELOVL4):c.*142G>C rs1512118 0.15383
NM_022726.4(ELOVL4):c.*667T>C rs16891260 0.15372
NM_001319074.4(RAX2):c.217-8C>T rs79588413 0.15214
NM_022726.4(ELOVL4):c.-236C>T rs240307 0.14804
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_022726.4(ELOVL4):c.*1669T>G rs2991 0.14296
NM_000064.4(C3):c.304C>G (p.Arg102Gly) rs2230199 0.14228
NM_000064.4(C3):c.1836G>A (p.Thr612=) rs2230205 0.13947
NM_000064.4(C3):c.941C>T (p.Pro314Leu) rs1047286 0.13563
NM_001099667.3(ARMS2):c.112C>T (p.Arg38Ter) rs2736911 0.13199
NM_001099667.3(ARMS2):c.*374G>T rs566108895 0.13070
NM_000063.6(C2):c.1023G>A (p.Ala341=) rs1042663 0.11857
NM_001099667.3(ARMS2):c.*376T>C rs2672602 0.11668
NM_001099667.3(ARMS2):c.*385A>C rs2672603 0.11652
NM_000064.4(C3):c.3391-4T>C rs11569510 0.10612
NM_000064.4(C3):c.3391-6T>C rs11569509 0.10608
NM_000064.4(C3):c.3391-8T>C rs11569508 0.10606
NM_019098.4(CNGB3):c.*1638G>A rs28471019 0.09998
NM_001099667.3(ARMS2):c.*373T>G rs4752698 0.09758
NM_006017.3(PROM1):c.786G>A (p.Ala262=) rs2286455 0.09727
NM_001099667.3(ARMS2):c.8G>A (p.Arg3His) rs10490923 0.09089
NM_006017.3(PROM1):c.129C>T (p.Thr43=) rs10033086 0.09038
NM_031935.3(HMCN1):c.15260A>T (p.Asp5087Val) rs41317507 0.08845
NM_000186.4(CFH):c.*178T>A rs488738 0.08528
NM_000064.4(C3):c.4311C>T (p.Ala1437=) rs7951 0.08524
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu) rs534399 0.08522
NM_019098.5(CNGB3):c.2264A>G (p.Glu755Gly) rs3735972 0.08214
NM_019098.5(CNGB3):c.2214A>G (p.Glu738=) rs3735970 0.08211
NM_000064.4(C3):c.4631-8C>T rs11569565 0.06993
NM_031935.3(HMCN1):c.14158G>A (p.Ala4720Thr) rs6693069 0.06856
NM_001319074.4(RAX2):c.*680G>A rs28673245 0.06699
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile) rs515299 0.06393
NM_006017.3(PROM1):c.15C>T (p.Leu5=) rs10033189 0.06194
NM_019098.5(CNGB3):c.919A>G (p.Ile307Val) rs13265557 0.05793
NM_019098.5(CNGB3):c.1356G>A (p.Gln452=) rs34839859 0.05572
NM_000063.6(C2):c.1902+6G>C rs9332730 0.05089
NM_019098.5(CNGB3):c.608G>A (p.Arg203Gln) rs16916632 0.05057
NM_019098.5(CNGB3):c.1781+10A>T rs7000747 0.05032
NM_000064.4(C3):c.2715C>T (p.Thr905=) rs2230208 0.04973
NM_000064.4(C3):c.2430G>A (p.Ser810=) rs2230207 0.04934
NM_019098.5(CNGB3):c.211+13T>G rs66881636 0.04794
NM_000186.3(CFH):c.-195T>C rs35836460 0.04685
NM_006017.3(PROM1):c.1983+14G>A rs4698436 0.04259
NM_031935.3(HMCN1):c.9516A>T (p.Thr3172=) rs61745374 0.04046
NM_000186.4(CFH):c.1160-15T>C rs34815383 0.03666
NM_006017.3(PROM1):c.228G>A (p.Leu76=) rs76963591 0.03578
NM_006017.3(PROM1):c.1768-5C>T rs55708318 0.03551
NM_022726.4(ELOVL4):c.*361C>T rs41270557 0.03380
NM_022726.4(ELOVL4):c.*609G>A rs41270555 0.03374
NM_022726.4(ELOVL4):c.*1066T>G rs45594338 0.03371
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.*937A>G rs41317509 0.02893
NM_031935.3(HMCN1):c.4439C>T (p.Thr1480Ile) rs58293393 0.02671
NM_022726.4(ELOVL4):c.*1551A>G rs55808788 0.02617
NM_031935.3(HMCN1):c.11849-8A>C rs78780269 0.02456
NM_001319074.4(RAX2):c.*902G>T rs10405125 0.02418
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_006329.4(FBLN5):c.*623A>T rs77357345 0.02046
NM_019098.5(CNGB3):c.*778T>C rs16915859 0.01933
NM_019098.5(CNGB3):c.*389A>C rs16915861 0.01929
NM_000186.4(CFH):c.*98C>T rs35742764 0.01872
NM_006017.3(PROM1):c.631-14T>C rs16892824 0.01810
NM_031935.3(HMCN1):c.57C>T (p.Ser19=) rs114170176 0.01714
NM_006329.4(FBLN5):c.*514A>G rs17804735 0.01698
NM_006329.4(FBLN5):c.1122C>T (p.Tyr374=) rs145515678 0.01635
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_000063.6(C2):c.1922T>C (p.Val641Ala) rs36221133 0.01554
NM_000186.4(CFH):c.245-7G>A rs35814900 0.01519
NM_001319074.4(RAX2):c.155C>T (p.Pro52Leu) rs76076446 0.01485
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_006329.4(FBLN5):c.989+13G>A rs74071605 0.01368
NM_031935.3(HMCN1):c.12987C>T (p.Thr4329=) rs41317491 0.01364
NM_000064.4(C3):c.1407G>C (p.Glu469Asp) rs11569422 0.01362
NM_001319074.4(RAX2):c.*647T>C rs112369501 0.01352
NM_031935.3(HMCN1):c.10536T>C (p.Ala3512=) rs72720910 0.01345
NM_006329.4(FBLN5):c.863-13C>T rs74071606 0.01336
NM_001319074.4(RAX2):c.*381A>G rs73531473 0.01319
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_006329.4(FBLN5):c.*326G>A rs79375113 0.01197
NM_006329.4(FBLN5):c.*329T>C rs115237925 0.01197
NM_031935.3(HMCN1):c.3550G>T (p.Val1184Phe) rs12239296 0.01178
NM_000064.4(C3):c.783C>T (p.Tyr261=) rs2230200 0.01155
NM_031935.3(HMCN1):c.6908T>C (p.Ile2303Thr) rs149550536 0.01074
NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala) rs79183244 0.01053
NM_000064.4(C3):c.741C>T (p.Asn247=) rs11569571 0.01041
NM_019098.5(CNGB3):c.354G>T (p.Pro118=) rs75858066 0.01037
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_000064.4(C3):c.4457-5C>T rs344554 0.00979
NM_019098.5(CNGB3):c.1397T>C (p.Met466Thr) rs35010099 0.00978
NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln) rs148919174 0.00936
NM_006017.3(PROM1):c.55T>G (p.Ser19Ala) rs189108830 0.00928
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_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
NM_031935.3(HMCN1):c.9397A>G (p.Ile3133Val) rs79178888 0.00827
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_000064.4(C3):c.1653G>T (p.Val551=) rs344534 0.00648
NM_022726.4(ELOVL4):c.800T>C (p.Ile267Thr) rs148594713 0.00636
NM_006017.3(PROM1):c.1751A>G (p.His584Arg) rs140027620 0.00608
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534 0.00573
NM_006017.3(PROM1):c.1911+14G>A rs79077926 0.00565
NM_006017.3(PROM1):c.1683-3C>T rs143470288 0.00518
NM_031935.3(HMCN1):c.15732C>G (p.His5244Gln) rs75161007 0.00507
NM_006017.3(PROM1):c.*684C>T rs140362696 0.00496
NM_031935.3(HMCN1):c.8789T>C (p.Ile2930Thr) rs114135070 0.00480
NM_000063.6(C2):c.2200C>T (p.Arg734Cys) rs4151648 0.00474
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_006329.4(FBLN5):c.502+15G>C rs190933127 0.00456
NM_031935.3(HMCN1):c.7652T>C (p.Leu2551Ser) rs116300191 0.00436
NM_001319074.4(RAX2):c.45T>G (p.Gly15=) rs139127905 0.00435
NM_000186.4(CFH):c.3050C>T (p.Thr1017Ile) rs34362004 0.00426
NM_022726.4(ELOVL4):c.*509C>T rs149410136 0.00424
NM_022726.4(ELOVL4):c.*8T>C rs144822141 0.00421
NM_000186.4(CFH):c.-36G>C rs140356702 0.00418
NM_031935.3(HMCN1):c.8094G>A (p.Ala2698=) rs143866315 0.00404
NM_000064.4(C3):c.588G>A (p.Pro196=) rs150007726 0.00403
NM_000064.4(C3):c.1119+15G>A rs114252882 0.00399
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_022726.4(ELOVL4):c.-98C>T rs562763990 0.00344
NM_022726.4(ELOVL4):c.-268T>G rs546271509 0.00343
NM_000064.4(C3):c.-28C>G rs339394 0.00341
NM_031935.3(HMCN1):c.16318G>A (p.Asp5440Asn) rs74136061 0.00324
NM_006017.3(PROM1):c.1497C>T (p.Ile499=) rs113895168 0.00322
NM_001319074.4(RAX2):c.*1324A>G rs138882802 0.00293
NM_000064.4(C3):c.600-14C>T rs3745558 0.00289
NM_006017.3(PROM1):c.1977C>T (p.Asn659=) rs149028760 0.00222
NM_001319074.4(RAX2):c.*689C>T rs115071988 0.00201
NM_006329.4(FBLN5):c.-152C>T rs139387007 0.00199
NM_006017.3(PROM1):c.-25T>A rs149845694 0.00194
NM_006017.3(PROM1):c.1579-6T>C rs181261277 0.00190
NM_022726.4(ELOVL4):c.*1050A>G rs114429396 0.00158
NM_031935.3(HMCN1):c.8103T>C (p.Ile2701=) rs143271285 0.00156
NM_000063.6(C2):c.2046A>G (p.Ala682=) rs45507391 0.00154
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg) rs182096110 0.00128
NM_000186.4(CFH):c.1935G>T (p.Thr645=) rs56035657 0.00105
NM_031935.3(HMCN1):c.4515C>G (p.Asp1505Glu) rs146532107 0.00091
NM_031935.3(HMCN1):c.15440-13C>T rs12034495 0.00081
NM_019098.5(CNGB3):c.494-11T>C rs543970676 0.00062
NM_031935.3(HMCN1):c.5888G>T (p.Gly1963Val) rs144649977 0.00057
NM_000186.4(CFH):c.2509G>A (p.Val837Ile) rs55807605 0.00050
NM_000186.4(CFH):c.2637A>G (p.Gly879=) rs55752475 0.00050
NM_000186.4(CFH):c.3133+8G>T rs142718541 0.00036
NM_031935.3(HMCN1):c.10989+5A>G rs200045422 0.00029
NM_022726.4(ELOVL4):c.*377T>A rs77249894 0.00027
NM_006017.3(PROM1):c.678G>A (p.Ala226=) rs187116049 0.00020
NM_000063.6(C2):c.1130-11C>T rs117576077 0.00017
NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn) rs146434364 0.00010
NM_006017.3(PROM1):c.*1052G>A rs577484119 0.00004
NM_006329.4(FBLN5):c.-458G>A rs369441736 0.00002
NM_031935.3(HMCN1):c.1266C>G (p.Ser422=) rs565658664 0.00001
NM_000064.4(C3):c.1554C>A (p.Pro518=) rs2230203
NM_000064.4(C3):c.3753C>A (p.Pro1251=) rs2230209
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) rs149202905
NM_000186.4(CFH):c.3138C>T (p.Thr1046=) rs61822181
NM_000186.4(CFH):c.3427C>G (p.Gln1143Glu) rs15809
NM_001099667.3(ARMS2):c.298-13A>G rs7088128
NM_001099667.3(ARMS2):c.298-13A>T rs7088128
NM_019098.4(CNGB3):c.-36T>G rs7812496
NM_019098.5(CNGB3):c.*1303G>A rs17683284
NM_019098.5(CNGB3):c.*735A>G rs73269601
NM_019098.5(CNGB3):c.*915G>C rs189446254
NM_022726.4(ELOVL4):c.*360A>G rs537318852
NM_022726.4(ELOVL4):c.-90G>C rs62407622
NM_031935.3(HMCN1):c.12906C>T (p.Ala4302=) rs144437187

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