ClinVar Miner

List of variants reported as uncertain significance for atypical hemolytic-uremic syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 182
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HGVS dbSNP gnomAD frequency
NM_000361.3(THBD):c.*1469C>T rs3176124 0.00363
NM_172351.3(CD46):c.285T>C (p.Tyr95=) rs112089594 0.00175
NM_172351.3(CD46):c.*1111C>G rs193023975 0.00049
NM_000064.4(C3):c.-44C>T rs773043245 0.00039
NM_000186.3(CFH):c.-175T>C rs762143457 0.00036
NM_000204.4(CFI):c.-171G>A rs182477786 0.00026
NM_172351.3(CD46):c.276C>T (p.Asp92=) rs148383499 0.00026
NM_000361.3(THBD):c.302G>C (p.Arg101Pro) rs546519295 0.00025
NM_000186.4(CFH):c.3291G>A (p.Thr1097=) rs409953 0.00023
NM_000361.3(THBD):c.*1011C>A rs534762196 0.00023
NM_000361.3(THBD):c.*338C>T rs536637715 0.00021
NM_000204.5(CFI):c.905-3T>C rs377535161 0.00014
NM_172351.3(CD46):c.*1641A>G rs886045843 0.00013
NM_172351.3(CD46):c.*517T>A rs539666226 0.00013
NM_000361.3(THBD):c.1700G>A (p.Arg567Gln) rs368774068 0.00010
NM_000204.5(CFI):c.454G>A (p.Val152Met) rs367677199 0.00009
NM_172351.3(CD46):c.*1614G>A rs533116649 0.00009
NM_172351.3(CD46):c.887C>T (p.Ala296Val) rs753859532 0.00008
NM_000064.4(C3):c.1758G>A (p.Glu586=) rs764201055 0.00007
NM_000204.5(CFI):c.60C>T (p.Val20=) rs776132010 0.00007
NM_000064.4(C3):c.2907C>T (p.Asp969=) rs144672500 0.00006
NM_000064.4(C3):c.4095C>G (p.Val1365=) rs527830114 0.00006
NM_000064.4(C3):c.4257G>A (p.Lys1419=) rs768065757 0.00006
NM_000204.5(CFI):c.148C>G (p.Pro50Ala) rs144082872 0.00006
NM_172351.3(CD46):c.*968T>A rs768037862 0.00006
NM_172351.3(CD46):c.574G>C (p.Asp192His) rs368371683 0.00006
NM_000064.4(C3):c.1470C>T (p.Tyr490=) rs762635358 0.00005
NM_172351.3(CD46):c.*1665G>A rs886045845 0.00005
NM_000064.4(C3):c.3024G>A (p.Ser1008=) rs779366181 0.00004
NM_000064.4(C3):c.3299T>C (p.Leu1100Pro) rs750654763 0.00004
NM_000064.4(C3):c.4353C>G (p.Val1451=) rs750821412 0.00004
NM_000064.4(C3):c.4803C>T (p.His1601=) rs762332809 0.00004
NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr) rs11539862 0.00004
NM_000186.4(CFH):c.481G>T (p.Ala161Ser) rs777300338 0.00004
NM_000204.5(CFI):c.57+9T>C rs189973137 0.00004
NM_000204.5(CFI):c.950G>A (p.Arg317Gln) rs751111134 0.00004
NM_000361.3(THBD):c.675C>T (p.Thr225=) rs775568682 0.00004
NM_001710.6(CFB):c.274A>T (p.Thr92Ser) rs369638886 0.00004
NM_172351.3(CD46):c.*52G>A rs373138507 0.00004
NM_172351.3(CD46):c.-6C>T rs886045836 0.00004
NM_172351.3(CD46):c.245G>A (p.Arg82Gln) rs761000846 0.00004
NM_172351.3(CD46):c.293C>T (p.Thr98Ile) rs116800126 0.00004
NM_000204.5(CFI):c.1709G>C (p.Ser570Thr) rs200973120 0.00003
NM_000361.3(THBD):c.*230T>G rs985689499 0.00003
NM_000361.3(THBD):c.331G>A (p.Val111Ile) rs886056549 0.00003
NM_000361.3(THBD):c.716C>T (p.Ala239Val) rs886056547 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_172351.3(CD46):c.*1265T>C rs753496695 0.00003
NM_172351.3(CD46):c.*180T>C rs886045840 0.00003
NM_172351.3(CD46):c.*614T>C rs561506830 0.00003
NM_172351.3(CD46):c.1104C>T (p.Thr368=) rs764242699 0.00003
NM_000064.4(C3):c.1303G>A (p.Glu435Lys) rs774826179 0.00002
NM_000064.4(C3):c.3411C>T (p.Asn1137=) rs753019751 0.00002
NM_000064.4(C3):c.3449C>G (p.Ser1150Trp) rs1178318400 0.00002
NM_000186.4(CFH):c.2278A>T (p.Ile760Leu) rs772553879 0.00002
NM_000186.4(CFH):c.2639C>T (p.Thr880Ile) rs186711438 0.00002
NM_000186.4(CFH):c.33G>T (p.Met11Ile) rs779670935 0.00002
NM_000204.5(CFI):c.1429G>C (p.Asp477His) rs754972981 0.00002
NM_000361.3(THBD):c.*1104A>C rs926288174 0.00002
NM_000361.3(THBD):c.1528G>A (p.Val510Met) rs555537779 0.00002
NM_001710.6(CFB):c.1290C>T (p.Val430=) rs201619743 0.00002
NM_172351.3(CD46):c.*1211C>T rs1248620643 0.00002
NM_172351.3(CD46):c.*672A>T rs1430844015 0.00002
NM_172351.3(CD46):c.-127A>G rs1023894625 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.2441-6G>A rs752216964 0.00001
NM_000064.4(C3):c.2450T>A (p.Val817Glu) rs886054653 0.00001
NM_000064.4(C3):c.2646C>T (p.His882=) rs377316231 0.00001
NM_000064.4(C3):c.2793C>T (p.Val931=) rs781226831 0.00001
NM_000064.4(C3):c.3970-15C>G rs1233140401 0.00001
NM_000064.4(C3):c.4121-4C>T rs747452882 0.00001
NM_000064.4(C3):c.443G>A (p.Arg148Gln) rs886054657 0.00001
NM_000186.4(CFH):c.*14G>A rs463726 0.00001
NM_000186.4(CFH):c.2314G>A (p.Asp772Asn) rs374704701 0.00001
NM_000186.4(CFH):c.2542G>A (p.Gly848Arg) rs886045746 0.00001
NM_000186.4(CFH):c.2784C>A (p.Gly928=) rs755926856 0.00001
NM_000186.4(CFH):c.3134-7T>C rs779166622 0.00001
NM_000204.5(CFI):c.1112G>T (p.Gly371Val) rs763931500 0.00001
NM_000204.5(CFI):c.1429+5A>G rs771786368 0.00001
NM_000204.5(CFI):c.1A>G (p.Met1Val) rs770655669 0.00001
NM_000204.5(CFI):c.209A>C (p.Asn70Thr) rs749553820 0.00001
NM_000204.5(CFI):c.424A>C (p.Lys142Gln) rs762431670 0.00001
NM_000204.5(CFI):c.781G>A (p.Gly261Ser) rs547901965 0.00001
NM_000361.3(THBD):c.*1315C>T rs886056541 0.00001
NM_000361.3(THBD):c.*1505C>G rs1439185320 0.00001
NM_000361.3(THBD):c.*1689C>T rs886056540 0.00001
NM_000361.3(THBD):c.*169G>A rs543317002 0.00001
NM_000361.3(THBD):c.*509C>T rs1189083158 0.00001
NM_000361.3(THBD):c.-38G>A rs750724405 0.00001
NM_000361.3(THBD):c.72G>A (p.Gln24=) rs1185401752 0.00001
NM_001710.6(CFB):c.1762T>C (p.Tyr588His) rs1364257553 0.00001
NM_001710.6(CFB):c.917A>G (p.Lys306Arg) rs374738591 0.00001
NM_172351.3(CD46):c.*1146G>C rs914566029 0.00001
NM_172351.3(CD46):c.*1613C>T rs908893859 0.00001
NM_172351.3(CD46):c.*1888C>T rs886045846 0.00001
NM_172351.3(CD46):c.*1963C>T rs886045847 0.00001
NM_172351.3(CD46):c.*920A>G rs886045841 0.00001
NM_172351.3(CD46):c.-10C>T rs931567100 0.00001
NM_172351.3(CD46):c.1018+7A>G rs771467005 0.00001
NM_172351.3(CD46):c.118A>G (p.Thr40Ala) rs753924720 0.00001
NM_172351.3(CD46):c.586G>C (p.Gly196Arg) rs1656188708 0.00001
NM_172351.3(CD46):c.857-185T>C rs376519984 0.00001
NM_172351.3(CD46):c.860C>T (p.Ser287Leu) rs751860518 0.00001
NM_172351.3(CD46):c.901+9A>G rs370112627 0.00001
NM_000064.3(C3):c.-75A>C rs1316357912
NM_000064.4(C3):c.1269+14C>A rs886054655
NM_000064.4(C3):c.1686+10C>T rs776885748
NM_000064.4(C3):c.1725T>C (p.Pro575=) rs1967865144
NM_000064.4(C3):c.2390A>C (p.Asp797Ala) rs1967690681
NM_000064.4(C3):c.2429C>T (p.Ser810Leu) rs781280055
NM_000064.4(C3):c.2584G>T (p.Val862Leu) rs1967565745
NM_000064.4(C3):c.2617T>C (p.Cys873Arg) rs1967565177
NM_000064.4(C3):c.267+9A>G rs762058420
NM_000064.4(C3):c.2670C>G (p.Pro890=) rs137956083
NM_000064.4(C3):c.2700C>G (p.Ile900Met) rs763155610
NM_000064.4(C3):c.2857G>A (p.Gly953Ser) rs779124363
NM_000064.4(C3):c.2863+15G>T rs759976981
NM_000064.4(C3):c.3407A>G (p.Asn1136Ser) rs1918144043
NM_000064.4(C3):c.3586C>T (p.Leu1196=) rs1918019867
NM_000064.4(C3):c.3793G>A (p.Gly1265Ser) rs1918001974
NM_000064.4(C3):c.4120+8G>T rs886054652
NM_000064.4(C3):c.453C>T (p.Thr151=) rs148870667
NM_000064.4(C3):c.819C>T (p.Phe273=) rs886054656
NM_000186.4(CFH):c.*127G>T rs369221006
NM_000186.4(CFH):c.-61A>G rs886045741
NM_000186.4(CFH):c.103G>A (p.Gly35Ser) rs886045742
NM_000186.4(CFH):c.1451C>T (p.Ala484Val) rs1668781638
NM_000186.4(CFH):c.1984A>G (p.Arg662Gly) rs760174473
NM_000186.4(CFH):c.2215A>G (p.Thr739Ala) rs886045745
NM_000186.4(CFH):c.275C>T (p.Pro92Leu) rs886045743
NM_000186.4(CFH):c.2763T>C (p.Ser921=) rs1212658402
NM_000186.4(CFH):c.3134-5T>C rs513699
NM_000186.4(CFH):c.428-3C>T rs886045744
NM_000186.4(CFH):c.7C>G (p.Leu3Val) rs139254423
NM_000204.4(CFI):c.-98T>C rs886058984
NM_000204.5(CFI):c.1044+9G>A rs568070697
NM_000204.5(CFI):c.1381T>C (p.Phe461Leu) rs886058983
NM_000204.5(CFI):c.1516A>C (p.Lys506Gln) rs886058982
NM_000204.5(CFI):c.373G>C (p.Gly125Arg) rs910978973
NM_000204.5(CFI):c.91A>C (p.Lys31Gln) rs140888912
NM_000361.3(THBD):c.*1153A>G rs886056542
NM_000361.3(THBD):c.*1519G>C rs1984567640
NM_000361.3(THBD):c.*1845G>T rs867940213
NM_000361.3(THBD):c.*1869G>A rs886056539
NM_000361.3(THBD):c.*1G>T rs1984610334
NM_000361.3(THBD):c.*27C>T rs530087674
NM_000361.3(THBD):c.*508dup rs373979588
NM_000361.3(THBD):c.*562G>C rs886056544
NM_000361.3(THBD):c.*663C>T rs886056543
NM_000361.3(THBD):c.*775G>C rs539785413
NM_000361.3(THBD):c.*943dup rs759004623
NM_000361.3(THBD):c.1205A>G (p.His402Arg) rs1984634547
NM_000361.3(THBD):c.1577T>C (p.Leu526Pro) rs1984617316
NM_000361.3(THBD):c.1674C>G (p.Ser558=) rs1984613257
NM_000361.3(THBD):c.656G>T (p.Gly219Val) rs886056548
NM_000361.3(THBD):c.747C>G (p.Asn249Lys) rs886056546
NM_000361.3(THBD):c.885C>T (p.Phe295=) rs1568666169
NM_000361.3(THBD):c.897C>T (p.Asn299=) rs1008621697
NM_001710.5(CFB):c.-199T>C rs1771399314
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_172351.3(CD46):c.*1099A>G rs886045842
NM_172351.3(CD46):c.*1272C>T rs1660101231
NM_172351.3(CD46):c.*1418T>C rs1660116649
NM_172351.3(CD46):c.*1659A>G rs886045844
NM_172351.3(CD46):c.*1865G>C rs1660164008
NM_172351.3(CD46):c.*31A>G rs886045839
NM_172351.3(CD46):c.*467T>C rs953478028
NM_172351.3(CD46):c.*518A>G rs867789788
NM_172351.3(CD46):c.1082+13A>T rs1175018634
NM_172351.3(CD46):c.1090C>T (p.Leu364=) rs1483201583
NM_172351.3(CD46):c.857-124T>A rs886045837
NM_172351.3(CD46):c.949C>G (p.Pro317Ala) rs886045838

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