ClinVar Miner

List of variants reported as likely benign for Macular degeneration by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_002775.5(HTRA1):c.102C>T (p.Ala34=) rs1049331 0.22934
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359 0.13311
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153 0.11820
NM_001099667.3(ARMS2):c.*376T>C rs2672602 0.11668
NM_001099667.3(ARMS2):c.*385A>C rs2672603 0.11652
NM_001099667.3(ARMS2):c.*373T>G rs4752698 0.09758
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831 0.09402
NM_000350.3(ABCA4):c.*372A>G rs3747961 0.07805
NM_000063.6(C2):c.1902+6G>C rs9332730 0.05089
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04939
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_001710.6(CFB):c.504G>A (p.Pro168=) rs4151669 0.03288
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141 0.03191
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_031935.3(HMCN1):c.*117dup rs397961020 0.02844
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072 0.02574
NM_001710.6(CFB):c.754G>A (p.Gly252Ser) rs4151651 0.02344
NM_001710.6(CFB):c.672C>T (p.Tyr224=) rs4151670 0.02070
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129 0.02065
NM_001710.6(CFB):c.1365C>T (p.Val455=) rs2072634 0.01961
NM_000063.6(C2):c.1922T>C (p.Val641Ala) rs36221133 0.01554
NM_000350.3(ABCA4):c.*134G>A rs76201551 0.01542
NM_000124.4(ERCC6):c.*1327G>A rs117289374 0.01454
NM_000350.3(ABCA4):c.2964C>T (p.Leu988=) rs61754034 0.01415
NM_002775.5(HTRA1):c.77G>A (p.Arg26Gln) rs190036021 0.01411
NM_002775.5(HTRA1):c.-57C>A rs554513888 0.01387
NM_001099667.3(ARMS2):c.298-14_298-13insG rs529644268 0.01269
NM_001710.6(CFB):c.405C>T (p.Tyr135=) rs4151650 0.01202
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555 0.01028
NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp) rs4253047 0.01008
NM_000350.3(ABCA4):c.3051-14T>A rs17110922 0.01008
NM_001710.6(CFB):c.1137C>T (p.Arg379=) rs45600936 0.00911
NM_002775.5(HTRA1):c.59C>T (p.Ala20Val) rs369149111 0.00841
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu) rs2229761 0.00814
NM_000350.3(ABCA4):c.3831G>A (p.Thr1277=) rs75092434 0.00783
NM_000124.4(ERCC6):c.*1981dup rs557832376 0.00515
NM_000124.4(ERCC6):c.*2155T>C rs114183603 0.00503
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.4925G>T (p.Ser1642Ile) rs114518437 0.00425
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) rs149101394 0.00391
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_002775.5(HTRA1):c.1221C>T (p.Asp407=) rs11538140 0.00305
NM_001710.6(CFB):c.1778+9G>A rs188688680 0.00301
NM_001710.6(CFB):c.858C>T (p.Phe286=) rs117905900 0.00285
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174 0.00246
NM_001319074.4(RAX2):c.-331C>T rs150444854 0.00246
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943 0.00239
NM_002775.5(HTRA1):c.879C>T (p.Thr293=) rs149294320 0.00207
NM_000350.3(ABCA4):c.*26C>A rs200946608 0.00193
NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939 0.00185
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=) rs61748519 0.00185
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=) rs147884766 0.00183
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163 0.00179
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) rs61752395 0.00176
NM_001710.6(CFB):c.1143C>T (p.Arg381=) rs150920440 0.00175
NM_001710.6(CFB):c.724A>C (p.Ile242Leu) rs144812066 0.00175
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_000063.6(C2):c.2046A>G (p.Ala682=) rs45507391 0.00154
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met) rs55698015 0.00142
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln) rs145720191 0.00137
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440 0.00133
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_031935.3(HMCN1):c.5851+10del rs375820274 0.00091
NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys) rs75267647 0.00066
NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp) rs148095899 0.00061
NM_002775.5(HTRA1):c.1094C>T (p.Thr365Met) rs139620409 0.00056
NM_002775.5(HTRA1):c.*296C>G rs28665753 0.00055
NM_000350.3(ABCA4):c.*299G>C rs538804441 0.00048
NM_000124.4(ERCC6):c.*1314G>A rs542053472 0.00043
NM_000124.4(ERCC6):c.3186T>C (p.Ser1062=) rs35365613 0.00041
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171 0.00037
NM_000350.3(ABCA4):c.2744-5C>T rs76305791 0.00028
NM_006329.4(FBLN5):c.-9G>T rs184393277 0.00023
NM_001710.6(CFB):c.221G>A (p.Arg74His) rs117314762 0.00019
NM_001710.6(CFB):c.2100C>T (p.Gly700=) rs116928087 0.00017
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=) rs201602424 0.00014
NM_002775.5(HTRA1):c.834C>T (p.Phe278=) rs141130635 0.00012
NM_000350.3(ABCA4):c.*55G>T rs201160433 0.00010
NM_006329.4(FBLN5):c.224T>C (p.Val75Ala) rs145108467 0.00007
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=) rs180921875 0.00006
NM_001710.6(CFB):c.1548G>A (p.Val516=) rs553118090 0.00005
NM_000063.6(C2):c.1360+1G>A rs140225293 0.00004
NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr) rs142673376 0.00002
NM_000063.6(C2):c.1835G>A (p.Ser612Asn) rs573509224 0.00001
NM_000064.4(C3):c.-3_-2dup rs528697923
NM_000124.4(ERCC6):c.*2337A>C rs557944846
NM_000350.3(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.3(ABCA4):c.3840_3845del (p.1279DS[1]) rs62642572
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.468C>T (p.Ile156=) rs148091207
NM_001099667.3(ARMS2):c.298-13A>G rs7088128
NM_001099667.3(ARMS2):c.298-13A>T rs7088128
NM_001099667.3(ARMS2):c.298-4del rs369018824
NM_001319074.4(RAX2):c.*1082_*1092del rs143816706
NM_001710.5(CFB):c.-186delG rs796979529
NM_001710.6(CFB):c.1037-10C>G rs201659953
NM_001710.6(CFB):c.1524C>T (p.His508=) rs138207668
NM_002775.5(HTRA1):c.108G>C (p.Gly36=) rs2293870
NM_002775.5(HTRA1):c.108G>T (p.Gly36=) rs2293870
NM_006329.4(FBLN5):c.-441del rs556678788
NM_031935.3(HMCN1):c.*775_*778del rs201927661
NM_031935.3(HMCN1):c.*836dup rs146952459
NM_031935.3(HMCN1):c.4910-14_4910-13del rs200156765

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