ClinVar Miner

List of variants reported as uncertain significance for Atypical hemolytic uremic syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 100
Download table as spreadsheet
HGVS dbSNP
NM_000064.4(C3):c.1164C>T (p.Pro388=) rs769368306
NM_000064.4(C3):c.1269+14C>A rs886054655
NM_000064.4(C3):c.1758G>A (p.Glu586=) rs764201055
NM_000064.4(C3):c.1767C>T (p.His589=) rs775843240
NM_000064.4(C3):c.1819A>G (p.Lys607Glu) rs140637006
NM_000064.4(C3):c.2403G>A (p.Thr801=) rs886054654
NM_000064.4(C3):c.2450T>A (p.Val817Glu) rs886054653
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.2907C>T (p.Asp969=) rs144672500
NM_000064.4(C3):c.3299T>C (p.Leu1100Pro) rs750654763
NM_000064.4(C3):c.3687C>T (p.Asn1229=) rs201108539
NM_000064.4(C3):c.4095C>G (p.Val1365=) rs527830114
NM_000064.4(C3):c.4120+8G>T rs886054652
NM_000064.4(C3):c.4319A>C (p.Asp1440Ala) rs147116781
NM_000064.4(C3):c.443G>A (p.Arg148Gln) rs886054657
NM_000064.4(C3):c.4535G>A (p.Arg1512His) rs142868256
NM_000064.4(C3):c.4759C>T (p.Pro1587Ser) rs746985605
NM_000064.4(C3):c.4803C>T (p.His1601=) rs762332809
NM_000064.4(C3):c.4827C>T (p.Ser1609=) rs150537373
NM_000064.4(C3):c.4850+12C>A rs748416799
NM_000064.4(C3):c.4941G>A (p.Gln1647=) rs780251209
NM_000064.4(C3):c.681C>T (p.Tyr227=) rs756694755
NM_000064.4(C3):c.819C>T (p.Phe273=) rs886054656
NM_000186.3(CFH):c.*14G>A rs463726
NM_000186.3(CFH):c.-175T>C rs762143457
NM_000186.3(CFH):c.-61A>G rs886045741
NM_000186.3(CFH):c.103G>A (p.Gly35Ser) rs886045742
NM_000186.3(CFH):c.2215A>G (p.Thr739Ala) rs886045745
NM_000186.3(CFH):c.2542G>A (p.Gly848Arg) rs886045746
NM_000186.3(CFH):c.275C>T (p.Pro92Leu) rs886045743
NM_000186.3(CFH):c.2784C>A (p.Gly928=) rs755926856
NM_000186.3(CFH):c.285T>C (p.Thr95=) rs148182625
NM_000186.3(CFH):c.3004G>C (p.Gly1002Arg) rs201816520
NM_000186.3(CFH):c.3134-7T>C rs779166622
NM_000186.3(CFH):c.3310+12T>C rs757045842
NM_000186.3(CFH):c.428-3C>T rs886045744
NM_000204.4(CFI):c.-98T>C rs886058984
NM_000204.4(CFI):c.1112G>T (p.Gly371Val) rs763931500
NM_000204.4(CFI):c.129C>T (p.Cys43=) rs146462954
NM_000204.4(CFI):c.1381T>C (p.Phe461Leu) rs886058983
NM_000204.4(CFI):c.1429+5A>G rs771786368
NM_000204.4(CFI):c.1429G>C (p.Asp477His) rs754972981
NM_000204.4(CFI):c.1516A>C (p.Lys506Gln) rs886058982
NM_000204.4(CFI):c.309C>T (p.Asn103=) rs761425840
NM_000204.4(CFI):c.405T>C (p.Asp135=) rs375792874
NM_000204.4(CFI):c.540A>G (p.Glu180=) rs759777516
NM_000361.2(THBD):c.*1153A>G rs886056542
NM_000361.2(THBD):c.*1315C>T rs886056541
NM_000361.2(THBD):c.*1689C>T rs886056540
NM_000361.2(THBD):c.*1869G>A rs886056539
NM_000361.2(THBD):c.*508dup rs373979588
NM_000361.2(THBD):c.*562G>C rs886056544
NM_000361.2(THBD):c.*663C>T rs886056543
NM_000361.2(THBD):c.*943dup rs759004623
NM_000361.2(THBD):c.-38G>A rs750724405
NM_000361.2(THBD):c.1029A>G (p.Thr343=) rs79349426
NM_000361.2(THBD):c.1083G>A (p.Glu361=) rs370377519
NM_000361.2(THBD):c.1528G>A (p.Val510Met) rs555537779
NM_000361.2(THBD):c.331G>A (p.Val111Ile) rs886056549
NM_000361.2(THBD):c.656G>T (p.Gly219Val) rs886056548
NM_000361.2(THBD):c.675C>T (p.Thr225=) rs775568682
NM_000361.2(THBD):c.716C>T (p.Ala239Val) rs886056547
NM_000361.2(THBD):c.747C>G (p.Asn249Lys) rs886056546
NM_000361.2(THBD):c.920C>T (p.Ser307Leu) rs372556297
NM_001710.5(CFB):c.*16A>T rs749158582
NM_001710.5(CFB):c.-3G>A rs755016493
NM_001710.5(CFB):c.1037-10C>T rs201659953
NM_001710.5(CFB):c.1227A>G (p.Leu409=) rs761050063
NM_001710.5(CFB):c.1524C>A (p.His508Gln) rs138207668
NM_001710.5(CFB):c.1593T>C (p.Asp531=) rs886061296
NM_001710.5(CFB):c.1889C>T (p.Ala630Val) rs886061297
NM_001710.5(CFB):c.291G>A (p.Glu97=) rs138236643
NM_001710.5(CFB):c.321C>T (p.His107=) rs767428982
NM_001710.5(CFB):c.656A>T (p.Gln219Leu) rs886061295
NM_001710.5(CFB):c.720G>A (p.Glu240=) rs753831049
NM_002389.4(CD46):c.*1099A>G rs886045842
NM_002389.4(CD46):c.*1111C>G rs193023975
NM_002389.4(CD46):c.*1641A>G rs886045843
NM_002389.4(CD46):c.*1659A>G rs886045844
NM_002389.4(CD46):c.*1665G>A rs886045845
NM_002389.4(CD46):c.*180T>C rs886045840
NM_002389.4(CD46):c.*1888C>T rs886045846
NM_002389.4(CD46):c.*1963C>T rs886045847
NM_002389.4(CD46):c.*31A>G rs886045839
NM_002389.4(CD46):c.*517T>A rs539666226
NM_002389.4(CD46):c.*52G>A rs373138507
NM_002389.4(CD46):c.*614T>C rs561506830
NM_002389.4(CD46):c.*918G>A rs6664092
NM_002389.4(CD46):c.*920A>G rs886045841
NM_002389.4(CD46):c.*968T>A rs768037862
NM_002389.4(CD46):c.-6C>T rs886045836
NM_002389.4(CD46):c.901+4T>A rs886045837
NM_002389.4(CD46):c.946+9A>G rs370112627
NM_172351.3(CD46):c.118A>G (p.Thr40Ala) rs753924720
NM_172351.3(CD46):c.276C>T (p.Asp92=) rs148383499
NM_172351.3(CD46):c.574G>C (p.Asp192His) rs368371683
NM_172351.3(CD46):c.860C>T (p.Ser287Leu) rs751860518
NM_172351.3(CD46):c.887C>T (p.Ala296Val) rs753859532
NM_172351.3(CD46):c.949C>G (p.Pro317Ala) rs886045838

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.