ClinVar Miner

List of variants studied for Macular degeneration

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Minimum conflict level:
ClinVar version:
Total variants: 280
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HGVS dbSNP gnomAD frequency
NM_002775.5(HTRA1):c.1274+8G>A rs2672586 0.99939
NM_001710.6(CFB):c.450A>G (p.Arg150=) rs1048709 0.85323
NM_000124.4(ERCC6):c.1821+7C>T rs4253132 0.84443
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=) rs1762114 0.78856
NM_002775.5(HTRA1):c.1274+14G>A rs2272599 0.63755
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.62551
NM_000350.3(ABCA4):c.1240-14C>T rs4147830 0.47169
NM_000124.4(ERCC6):c.*379C>G rs4253234 0.31692
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760 0.31596
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=) rs1801555 0.27862
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_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527 0.19565
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19072
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529 0.18890
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528 0.17598
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_001710.5(CFB):c.94C>T (p.Arg32Trp) rs12614 0.17324
NM_000350.3(ABCA4):c.6730-3T>C rs1800717 0.15096
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_000124.4(ERCC6):c.*1830T>C rs11101137 0.09932
NM_000124.4(ERCC6):c.*53T>C rs4253231 0.09905
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013 0.09896
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_000124.4(ERCC6):c.*933G>A rs3750751 0.07801
NM_000124.4(ERCC6):c.*1964_*1966del rs147228327 0.06626
NM_000063.6(C2):c.1902+6G>C rs9332730 0.05089
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04939
NM_000124.4(ERCC6):c.-78G>T rs4253005 0.04162
NM_002775.5(HTRA1):c.753C>T (p.Ile251=) rs17624021 0.04155
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.*23C>T rs4151672 0.03305
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_001710.6(CFB):c.1693A>G (p.Lys565Glu) rs4151659 0.01851
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.528A>G (p.Arg176=) rs4253027 0.01480
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.1697A>C (p.Glu566Ala) rs45484591 0.00913
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_001710.6(CFB):c.1953T>G (p.Asp651Glu) rs4151660 0.00673
NM_000124.4(ERCC6):c.*1981dup rs557832376 0.00515
NM_000124.4(ERCC6):c.*2155T>C rs114183603 0.00503
NM_002775.5(HTRA1):c.473-8G>T rs114877122 0.00498
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417 0.00491
NM_002775.5(HTRA1):c.337G>T (p.Ala113Ser) rs140088745 0.00485
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_000063.6(C2):c.1414G>A (p.Ala472Thr) rs142243595 0.00105
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_001319074.4(RAX2):c.*477del rs753823753 0.00064
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_001710.6(CFB):c.*47C>T rs375895797 0.00052
NM_000124.4(ERCC6):c.-15+11G>A rs766986601 0.00050
NM_000124.4(ERCC6):c.*1279T>A rs189942338 0.00048
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.2877C>T (p.Thr959=) rs61754033 0.00041
NM_002775.5(HTRA1):c.*460C>T rs575641740 0.00039
NM_000350.3(ABCA4):c.1240-8G>C rs185225547 0.00038
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_000063.6(C2):c.1450A>G (p.Ile484Val) rs145988012 0.00031
NM_000350.3(ABCA4):c.2744-5C>T rs76305791 0.00028
NM_012418.4(FSCN2):c.72del (p.Thr25fs) rs376633374 0.00024
NM_006329.4(FBLN5):c.-9G>T rs184393277 0.00023
NM_000063.6(C2):c.2080-8T>C rs201806170 0.00022
NM_000350.3(ABCA4):c.1155C>T (p.Ile385=) rs376624031 0.00022
NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=) rs138831474 0.00021
NM_002775.5(HTRA1):c.12G>T (p.Pro4=) rs761008513 0.00021
NM_002775.5(HTRA1):c.245C>G (p.Pro82Arg) rs541204010 0.00021
NM_001710.6(CFB):c.1407C>G (p.Ile469Met) rs201798809 0.00019
NM_001710.6(CFB):c.221G>A (p.Arg74His) rs117314762 0.00019
NM_002775.5(HTRA1):c.*446G>A rs555692792 0.00019
NM_002775.5(HTRA1):c.451C>A (p.Gln151Lys) rs754645487 0.00019
NM_000350.3(ABCA4):c.3607+13C>T rs374630957 0.00017
NM_001710.6(CFB):c.2100C>T (p.Gly700=) rs116928087 0.00017
NM_000063.6(C2):c.*82C>T rs747202032 0.00016
NM_000350.3(ABCA4):c.*147C>T rs773349580 0.00016
NM_031935.3(HMCN1):c.16773G>A (p.Val5591=) rs145772673 0.00016
NM_000124.4(ERCC6):c.2697G>A (p.Thr899=) rs761802751 0.00015
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=) rs201602424 0.00014
NM_001710.6(CFB):c.291G>A (p.Glu97=) rs138236643 0.00014
NM_000063.6(C2):c.1902+5G>A rs201711512 0.00013
NM_000350.3(ABCA4):c.741C>T (p.Asn247=) rs372976742 0.00013
NM_002775.5(HTRA1):c.1333G>A (p.Ala445Thr) rs371279115 0.00013
NM_002775.5(HTRA1):c.176G>C (p.Arg59Pro) rs1246114252 0.00012
NM_002775.5(HTRA1):c.472+6C>A rs550039968 0.00012
NM_002775.5(HTRA1):c.834C>T (p.Phe278=) rs141130635 0.00012
NM_000063.6(C2):c.1577A>G (p.Lys526Arg) rs146054348 0.00011
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys) rs138157885 0.00011
NM_031935.3(HMCN1):c.15439+14dup rs759693498 0.00011
NM_000350.3(ABCA4):c.*55G>T rs201160433 0.00010
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701 0.00010
NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met) rs202127235 0.00009
NM_031935.3(HMCN1):c.1406C>A (p.Thr469Lys) rs200897962 0.00008
NM_000350.3(ABCA4):c.2517C>T (p.Ser839=) rs138246242 0.00007
NM_001710.6(CFB):c.1838C>T (p.Thr613Ile) rs201754399 0.00007
NM_001710.6(CFB):c.784G>A (p.Val262Ile) rs200645483 0.00007
NM_002775.5(HTRA1):c.1350C>T (p.Asp450=) rs374675648 0.00007
NM_002775.5(HTRA1):c.777+14C>T rs201190236 0.00007
NM_006329.4(FBLN5):c.224T>C (p.Val75Ala) rs145108467 0.00007
NM_000063.6(C2):c.*304A>G rs72842444 0.00006
NM_000063.6(C2):c.1529G>A (p.Arg510His) rs45476300 0.00006
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=) rs180921875 0.00006
NM_000350.3(ABCA4):c.5197-4C>T rs758825834 0.00006
NM_002775.5(HTRA1):c.843C>T (p.Ala281=) rs202167109 0.00006
NM_000350.3(ABCA4):c.4848+13T>C rs374196141 0.00005
NM_001319074.4(RAX2):c.*1145G>A rs886054365 0.00005
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.3586A>T (p.Thr1196Ser) rs370967816 0.00004
NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=) rs202199507 0.00004
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=) rs191506332 0.00004
NM_001710.6(CFB):c.274A>T (p.Thr92Ser) rs369638886 0.00004
NM_001710.6(CFB):c.604C>T (p.Arg202Trp) rs537478097 0.00004
NM_002775.5(HTRA1):c.1260T>A (p.Asp420Glu) rs144118239 0.00004
NM_000350.3(ABCA4):c.1319A>G (p.Tyr440Cys) rs770439859 0.00003
NM_000350.3(ABCA4):c.1493A>G (p.Asp498Gly) rs147135304 0.00003
NM_000350.3(ABCA4):c.3670T>G (p.Cys1224Gly) rs762213896 0.00003
NM_001710.6(CFB):c.*16A>T rs749158582 0.00003
NM_001710.6(CFB):c.-3G>A rs755016493 0.00003
NM_001710.6(CFB):c.1227A>G (p.Leu409=) rs761050063 0.00003
NM_001710.6(CFB):c.1593T>C (p.Asp531=) rs886061296 0.00003
NM_001710.6(CFB):c.321C>T (p.His107=) rs767428982 0.00003
NM_002775.5(HTRA1):c.10C>T (p.Pro4Ser) rs1325725955 0.00003
NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=) rs886046565 0.00002
NM_000350.3(ABCA4):c.4194C>T (p.Gly1398=) rs763857670 0.00002
NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr) rs142673376 0.00002
NM_001710.6(CFB):c.1290C>T (p.Val430=) rs201619743 0.00002
NM_001710.6(CFB):c.720G>A (p.Glu240=) rs753831049 0.00002
NM_000063.6(C2):c.1835G>A (p.Ser612Asn) rs573509224 0.00001
NM_000064.4(C3):c.1767C>T (p.His589=) rs775843240 0.00001
NM_000064.4(C3):c.2403G>A (p.Thr801=) rs886054654 0.00001
NM_000064.4(C3):c.2450T>A (p.Val817Glu) rs886054653 0.00001
NM_000124.4(ERCC6):c.4391G>C (p.Cys1464Ser) rs759125039 0.00001
NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg) rs775661924 0.00001
NM_000350.3(ABCA4):c.331G>C (p.Glu111Gln) rs766512063 0.00001
NM_000350.3(ABCA4):c.4510G>A (p.Glu1504Lys) rs190370456 0.00001
NM_000350.3(ABCA4):c.4573C>T (p.Leu1525=) rs774957381 0.00001
NM_000350.3(ABCA4):c.4945C>T (p.Pro1649Ser) rs886046563 0.00001
NM_001710.6(CFB):c.1762T>C (p.Tyr588His) rs1364257553 0.00001
NM_001710.6(CFB):c.1956+10G>A rs545348156 0.00001
NM_001710.6(CFB):c.917A>G (p.Lys306Arg) rs374738591 0.00001
NM_002775.5(HTRA1):c.*217T>A rs886046773 0.00001
NM_002775.5(HTRA1):c.385C>T (p.Leu129=) rs757237545 0.00001
NM_002775.5(HTRA1):c.578C>T (p.Pro193Leu) rs748367895 0.00001
NM_002775.5(HTRA1):c.770A>C (p.Asp257Ala) rs1199033479 0.00001
NM_002775.5(HTRA1):c.844A>C (p.Ile282Leu) rs1329676998 0.00001
NM_031935.3(HMCN1):c.16754A>C (p.Glu5585Ala) rs771757920 0.00001
NM_031935.3(HMCN1):c.7589C>G (p.Ser2530Cys) rs573119781 0.00001
NM_000063.6(C2):c.*183C>T rs567255004
NM_000063.6(C2):c.81C>T (p.Asn27=) rs201336507
NM_000064.4(C3):c.-3_-2dup rs528697923
NM_000064.4(C3):c.2048-14_2048-13del rs140718871
NM_000064.4(C3):c.4120+8G>T rs886054652
NM_000124.4(ERCC6):c.*232dup rs74561842
NM_000124.4(ERCC6):c.*2337A>C rs557944846
NM_000124.4(ERCC6):c.-87C>A rs4253004
NM_000124.4(ERCC6):c.2481AGA[2] (p.Glu829del) rs886047036
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.4(ERCC6):c.4438_4440del (p.Ser1480del) rs886047032
NM_000186.4(CFH):c.428-3C>T rs886045744
NM_000350.3(ABCA4):c.1356+10dup rs281865386
NM_000350.3(ABCA4):c.1356+14dup rs886046567
NM_000350.3(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.3(ABCA4):c.1356+6_1356+7insC rs886046568
NM_000350.3(ABCA4):c.2278C>G (p.Leu760Val) rs886046566
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.3(ABCA4):c.3840_3845del (p.1279DS[1]) rs62642572
NM_000350.3(ABCA4):c.3947A>C (p.Asp1316Ala) rs746468013
NM_000350.3(ABCA4):c.3977C>G (p.Ala1326Gly) rs761989194
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.4532C>T (p.Pro1511Leu) rs886046564
NM_000350.3(ABCA4):c.468C>T (p.Ile156=) rs148091207
NM_000350.3(ABCA4):c.4749T>A (p.Leu1583=) rs754531924
NM_000350.3(ABCA4):c.4774-17_4774-16del rs55860151
NM_000350.3(ABCA4):c.5121C>A (p.Asn1707Lys) rs886046562
NM_000350.3(ABCA4):c.5460+6C>T rs886046561
NM_000350.3(ABCA4):c.5610C>A (p.Phe1870Leu) rs886046560
NM_000350.3(ABCA4):c.5953C>T (p.Leu1985Phe) rs886046559
NM_000350.3(ABCA4):c.6416G>C (p.Arg2139Pro) rs761867791
NM_000350.3(ABCA4):c.791G>A (p.Arg264His) rs567985213
NM_001099667.3(ARMS2):c.*377dup rs886046772
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_001319074.4(RAX2):c.*1205G>A rs886054364
NM_001319074.4(RAX2):c.*721_*724del rs138512126
NM_001710.5(CFB):c.-186delG rs796979529
NM_001710.5(CFB):c.-199T>C rs1771399314
NM_001710.6(CFB):c.1037-10C>G rs201659953
NM_001710.6(CFB):c.1037-10C>T rs201659953
NM_001710.6(CFB):c.1524C>A (p.His508Gln) rs138207668
NM_001710.6(CFB):c.1524C>T (p.His508=) rs138207668
NM_001710.6(CFB):c.1803G>A (p.Glu601=) rs377025675
NM_001710.6(CFB):c.1889C>T (p.Ala630Val) rs886061297
NM_001710.6(CFB):c.2069C>T (p.Ala690Val) rs1403720810
NM_001710.6(CFB):c.334G>C (p.Gly112Arg) rs950175817
NM_001710.6(CFB):c.656A>T (p.Gln219Leu) rs886061295
NM_002775.5(HTRA1):c.*191G>T rs562876149
NM_002775.5(HTRA1):c.108G>C (p.Gly36=) rs2293870
NM_002775.5(HTRA1):c.108G>T (p.Gly36=) rs2293870
NM_002775.5(HTRA1):c.133C>T (p.Arg45Cys) rs1473219900
NM_002775.5(HTRA1):c.33_34insTCC (p.Leu11_Leu12insSer) rs541533723
NM_002775.5(HTRA1):c.34C>T (p.Leu12=) rs996483189
NM_002775.5(HTRA1):c.840C>A (p.Val280=) rs141925572
NM_006329.4(FBLN5):c.-441del rs556678788
NM_031935.3(HMCN1):c.*656TAA[3] rs886045695
NM_031935.3(HMCN1):c.*775_*778del rs201927661
NM_031935.3(HMCN1):c.*836dup rs146952459
NM_031935.3(HMCN1):c.-13dup rs752517345
NM_031935.3(HMCN1):c.-25dup rs545770705
NM_031935.3(HMCN1):c.14609-6dup rs759638529
NM_031935.3(HMCN1):c.16032ACA[1] (p.Gln5345del) rs780673178
NM_031935.3(HMCN1):c.4910-14_4910-13del rs200156765

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