ClinVar Miner

List of variants reported as likely benign for Atypical hemolytic uremic syndrome

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ClinVar version:
Total variants: 152
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HGVS dbSNP
NM_000063.6(C2):c.*304A>G rs72842444
NM_000063.6(C2):c.1360+1G>A rs140225293
NM_000063.6(C2):c.1414G>A (p.Ala472Thr) rs142243595
NM_000063.6(C2):c.1450A>G (p.Ile484Val) rs145988012
NM_000063.6(C2):c.1529G>A (p.Arg510His) rs45476300
NM_000063.6(C2):c.1778G>A (p.Arg593Gln) rs150878060
NM_000063.6(C2):c.1835G>A (p.Ser612Asn) rs573509224
NM_000063.6(C2):c.1922T>C (p.Val641Ala) rs36221133
NM_000063.6(C2):c.2046A>G (p.Ala682=) rs45507391
NM_000063.6(C2):c.2080-8T>C rs201806170
NM_000064.4(C3):c.-28C>G rs339394
NM_000064.4(C3):c.-3_-2dup rs528697923
NM_000064.4(C3):c.1042A>G (p.Ile348Val) rs141737564
NM_000064.4(C3):c.1119+14C>T rs374368486
NM_000064.4(C3):c.1119+15G>A rs114252882
NM_000064.4(C3):c.1303G>A (p.Glu435Lys) rs774826179
NM_000064.4(C3):c.1407G>C (p.Glu469Asp) rs11569422
NM_000064.4(C3):c.1623C>T (p.Ser541=) rs202078483
NM_000064.4(C3):c.1653G>T (p.Val551=) rs344534
NM_000064.4(C3):c.1855G>A (p.Val619Met) rs146613648
NM_000064.4(C3):c.1873A>T (p.Ile625Phe) rs144432231
NM_000064.4(C3):c.1898A>G (p.Lys633Arg) rs140655115
NM_000064.4(C3):c.2067G>A (p.Glu689=) rs147477257
NM_000064.4(C3):c.2184C>T (p.Cys728=) rs200258941
NM_000064.4(C3):c.2203C>T (p.Arg735Trp) rs117793540
NM_000064.4(C3):c.2245+15G>A rs11569434
NM_000064.4(C3):c.2394C>T (p.Ser798=) rs112178657
NM_000064.4(C3):c.2799G>A (p.Pro933=) rs149209011
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609
NM_000064.4(C3):c.3216G>T (p.Arg1072=) rs137880434
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534
NM_000064.4(C3):c.3993A>G (p.Thr1331=) rs202210310
NM_000064.4(C3):c.4030-4C>T rs372612816
NM_000064.4(C3):c.4457-5C>T rs344554
NM_000064.4(C3):c.4631-9C>T rs116302413
NM_000064.4(C3):c.4635C>T (p.Tyr1545=) rs189948635
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) rs149202905
NM_000064.4(C3):c.4767G>A (p.Lys1589=) rs144589541
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210
NM_000064.4(C3):c.588G>A (p.Pro196=) rs150007726
NM_000064.4(C3):c.600-14C>T rs3745558
NM_000064.4(C3):c.741C>T (p.Asn247=) rs11569571
NM_000064.4(C3):c.774-4G>A rs368095422
NM_000064.4(C3):c.783C>T (p.Tyr261=) rs2230200
NM_000186.3(CFH):c.*98C>T rs35742764
NM_000186.3(CFH):c.-124G>T rs527444515
NM_000186.3(CFH):c.-36G>C rs140356702
NM_000186.3(CFH):c.-79A>G rs35906110
NM_000186.3(CFH):c.1428A>G (p.Gln476=) rs34399588
NM_000186.3(CFH):c.1548T>A (p.Asn516Lys) rs147403664
NM_000186.3(CFH):c.1652T>C (p.Ile551Thr) rs35453854
NM_000186.3(CFH):c.1736T>C (p.Val579Ala) rs201411537
NM_000186.3(CFH):c.1935G>T (p.Thr645=) rs56035657
NM_000186.3(CFH):c.1949G>T (p.Gly650Val) rs143237092
NM_000186.3(CFH):c.2196G>A (p.Thr732=) rs144325643
NM_000186.3(CFH):c.2236+8T>A rs7537967
NM_000186.3(CFH):c.245-7G>A rs35814900
NM_000186.3(CFH):c.2509G>A (p.Val837Ile) rs55807605
NM_000186.3(CFH):c.2634C>T (p.His878=) rs35292876
NM_000186.3(CFH):c.2637A>G (p.Gly879=) rs55752475
NM_000186.3(CFH):c.2639C>T (p.Thr880Ile) rs186711438
NM_000186.3(CFH):c.2850G>T (p.Gln950His) rs149474608
NM_000186.3(CFH):c.2867C>T (p.Thr956Met) rs145975787
NM_000186.3(CFH):c.2957-7A>G rs190778135
NM_000186.3(CFH):c.3050C>T (p.Thr1017Ile) rs34362004
NM_000186.3(CFH):c.3102T>C (p.Asn1034=) rs34594237
NM_000186.3(CFH):c.3133+8G>T rs142718541
NM_000186.3(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867
NM_000186.3(CFH):c.3172T>C (p.Tyr1058His) rs55679475
NM_000186.3(CFH):c.3176T>C (p.Ile1059Thr) rs35343172
NM_000186.3(CFH):c.3178G>C (p.Val1060Leu) rs55771831
NM_000186.3(CFH):c.3207T>C (p.Ser1069=) rs62641697
NM_000186.3(CFH):c.350+9T>C rs201686629
NM_000186.3(CFH):c.428-14T>C rs184188486
NM_000186.3(CFH):c.477T>C (p.Ser159=) rs34940854
NM_000186.3(CFH):c.770G>A (p.Arg257His) rs140107330
NM_000204.4(CFI):c.*144T>C rs77449037
NM_000204.4(CFI):c.*7G>T rs80173133
NM_000204.4(CFI):c.-13G>A rs113612355
NM_000204.4(CFI):c.1044+8C>T rs190420174
NM_000204.4(CFI):c.1044+9G>A rs568070697
NM_000204.4(CFI):c.1206C>T (p.Pro402=) rs115780371
NM_000204.4(CFI):c.1246A>C (p.Ile416Leu) rs61733901
NM_000204.4(CFI):c.1322A>G (p.Lys441Arg) rs41278047
NM_000204.4(CFI):c.1410T>C (p.Ser470=) rs200068862
NM_000204.4(CFI):c.1429+8T>C rs184313022
NM_000204.4(CFI):c.1443C>T (p.Val481=) rs114091883
NM_000204.4(CFI):c.1534+5G>T rs114013791
NM_000204.4(CFI):c.1581C>T (p.Gly527=) rs181378677
NM_000204.4(CFI):c.1642G>C (p.Glu548Gln) rs7437875
NM_000204.4(CFI):c.1657C>T (p.Pro553Ser) rs113460688
NM_000204.4(CFI):c.1661A>T (p.Glu554Val) rs754572081
NM_000204.4(CFI):c.315A>T (p.Thr105=) rs61745205
NM_000204.4(CFI):c.319A>G (p.Thr107Ala) rs201419000
NM_000204.4(CFI):c.482+14T>A rs76014294
NM_000204.4(CFI):c.608C>T (p.Thr203Ile) rs138346388
NM_000204.4(CFI):c.782G>A (p.Gly261Asp) rs112534524
NM_000204.4(CFI):c.905-3T>C rs377535161
NM_000204.4(CFI):c.916A>G (p.Ile306Val) rs113273712
NM_000361.2(THBD):c.*1171C>G rs143450327
NM_000361.2(THBD):c.*1239G>A rs549574979
NM_000361.2(THBD):c.*1469C>T rs3176124
NM_000361.2(THBD):c.*1562G>T rs183647515
NM_000361.2(THBD):c.*158G>A rs3176121
NM_000361.2(THBD):c.*1770T>C rs113252822
NM_000361.2(THBD):c.*1993T>C rs3176136
NM_000361.2(THBD):c.*2129C>A rs372816835
NM_000361.2(THBD):c.*2143C>T rs3176126
NM_000361.2(THBD):c.*26C>T rs13306852
NM_000361.2(THBD):c.*321G>T rs56354707
NM_000361.2(THBD):c.*325T>C rs186669520
NM_000361.2(THBD):c.*338C>T rs536637715
NM_000361.2(THBD):c.*351A>G rs11696919
NM_000361.2(THBD):c.*41T>C rs377311614
NM_000361.2(THBD):c.*47C>T rs551028498
NM_000361.2(THBD):c.*497G>A rs3176122
NM_000361.2(THBD):c.*520C>G rs41282276
NM_000361.2(THBD):c.*759A>T rs73611750
NM_000361.2(THBD):c.-12C>T rs370548660
NM_000361.2(THBD):c.1208G>A (p.Arg403Lys) rs41400249
NM_000361.2(THBD):c.127G>A (p.Ala43Thr) rs1800576
NM_000361.2(THBD):c.1502C>T (p.Pro501Leu) rs1800579
NM_000361.2(THBD):c.40G>A (p.Gly14Ser) rs191884040
NM_001710.5(CFB):c.*23C>T rs4151672
NM_001710.5(CFB):c.*47C>T rs375895797
NM_001710.5(CFB):c.-186del rs796979529
NM_001710.5(CFB):c.1037-10C>G rs201659953
NM_001710.5(CFB):c.1137C>T (p.Arg379=) rs45600936
NM_001710.5(CFB):c.1143C>T (p.Arg381=) rs150920440
NM_001710.5(CFB):c.1407C>G (p.Ile469Met) rs201798809
NM_001710.5(CFB):c.1524C>T (p.His508=) rs138207668
NM_001710.5(CFB):c.1598A>G (p.Lys533Arg) rs149101394
NM_001710.5(CFB):c.1693A>G (p.Lys565Glu) rs4151659
NM_001710.5(CFB):c.1697A>C (p.Glu566Ala) rs45484591
NM_001710.5(CFB):c.1778+9G>A rs188688680
NM_001710.5(CFB):c.2100C>T (p.Gly700=) rs116928087
NM_001710.5(CFB):c.221G>A (p.Arg74His) rs117314762
NM_001710.5(CFB):c.26T>A (p.Leu9His) rs4151667
NM_001710.5(CFB):c.405C>T (p.Tyr135=) rs4151650
NM_001710.5(CFB):c.504G>A (p.Pro168=) rs4151669
NM_001710.5(CFB):c.600C>T (p.Ser200=) rs113197809
NM_001710.5(CFB):c.604C>T (p.Arg202Trp) rs537478097
NM_001710.5(CFB):c.672C>T (p.Tyr224=) rs4151670
NM_001710.5(CFB):c.724A>C (p.Ile242Leu) rs144812066
NM_001710.5(CFB):c.754G>A (p.Gly252Ser) rs4151651
NM_001710.5(CFB):c.858C>T (p.Phe286=) rs117905900
NM_002389.4(CD46):c.*1435T>C rs14374
NM_002389.4(CD46):c.*1498G>T rs117431447
NM_002389.4(CD46):c.*1875T>G rs1237
NM_002389.4(CD46):c.*503A>G rs2724390
NM_002389.4(CD46):c.1128-10C>T rs41317997
NM_172351.3(CD46):c.1013C>T (p.Ala338Val) rs35366573

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