ClinVar Miner

List of variants reported as uncertain significance for Macular degeneration by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_000063.6(C2):c.1414G>A (p.Ala472Thr) rs142243595 0.00105
NM_001319074.4(RAX2):c.*477del rs753823753 0.00064
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.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.1692A>G (p.Pro564=) rs143263315 0.00037
NM_000063.6(C2):c.1450A>G (p.Ile484Val) rs145988012 0.00031
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_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_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_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_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.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_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.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_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_001710.6(CFB):c.1290C>T (p.Val430=) rs201619743 0.00002
NM_001710.6(CFB):c.720G>A (p.Glu240=) rs753831049 0.00002
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.4120+8G>T rs886054652
NM_000124.4(ERCC6):c.*232dup rs74561842
NM_000124.4(ERCC6):c.2481AGA[2] (p.Glu829del) rs886047036
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+14dup rs886046567
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.3947A>C (p.Asp1316Ala) rs746468013
NM_000350.3(ABCA4):c.3977C>G (p.Ala1326Gly) rs761989194
NM_000350.3(ABCA4):c.4532C>T (p.Pro1511Leu) rs886046564
NM_000350.3(ABCA4):c.4749T>A (p.Leu1583=) rs754531924
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_001319074.4(RAX2):c.*1205G>A rs886054364
NM_001710.5(CFB):c.-199T>C rs1771399314
NM_001710.6(CFB):c.1037-10C>T rs201659953
NM_001710.6(CFB):c.1524C>A (p.His508Gln) 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.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_031935.3(HMCN1):c.*656TAA[3] rs886045695
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

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