ClinVar Miner

List of variants reported as likely benign for atypical hemolytic-uremic syndrome

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 228
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HGVS dbSNP gnomAD frequency
NM_001710.5(CFB):c.94C>T (p.Arg32Trp) rs12614 0.17324
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_000186.3(CFH):c.-79A>G rs35906110 0.02400
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His) rs34248917 0.02256
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867 0.01982
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His) rs35662416 0.01746
NM_000063.6(C2):c.1922T>C (p.Val641Ala) rs36221133 0.01554
NM_000186.4(CFH):c.245-7G>A rs35814900 0.01519
NM_000186.4(CFH):c.2236+8T>A rs7537967 0.01429
NM_000064.4(C3):c.783C>T (p.Tyr261=) rs2230200 0.01155
NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser) rs12097550 0.01068
NM_000064.4(C3):c.741C>T (p.Asn247=) rs11569571 0.01041
NM_000064.4(C3):c.4457-5C>T rs344554 0.00979
NM_000204.5(CFI):c.1534+5G>T rs114013791 0.00951
NM_001710.6(CFB):c.1137C>T (p.Arg379=) rs45600936 0.00911
NM_001201550.3(CFHR4):c.228T>C (p.Asp76=) rs145744152 0.00846
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
NM_021023.6(CFHR3):c.101T>G (p.Phe34Cys) rs61737523 0.00809
NM_000204.5(CFI):c.1206C>T (p.Pro402=) rs115780371 0.00646
NM_172351.3(CD46):c.417A>G (p.Leu139=) rs12126088 0.00583
NM_001710.6(CFB):c.600C>T (p.Ser200=) rs113197809 0.00527
NM_000064.4(C3):c.3970-8C>T rs11569540 0.00476
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_000186.4(CFH):c.3050C>T (p.Thr1017Ile) rs34362004 0.00426
NM_000186.4(CFH):c.2850G>T (p.Gln950His) rs149474608 0.00425
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) rs149101394 0.00391
NM_000064.4(C3):c.3958C>A (p.Arg1320=) rs141718696 0.00386
NM_000204.5(CFI):c.1246A>C (p.Ile416Leu) rs61733901 0.00369
NM_172351.3(CD46):c.796G>A (p.Asp266Asn) rs17006830 0.00369
NM_172351.3(CD46):c.861G>A (p.Ser287=) rs17006843 0.00368
NM_001710.6(CFB):c.858C>T (p.Phe286=) rs117905900 0.00285
NM_000186.4(CFH):c.428-14T>C rs184188486 0.00271
NM_172351.3(CD46):c.-11C>A rs74477032 0.00262
NM_000361.3(THBD):c.127G>A (p.Ala43Thr) rs1800576 0.00255
NM_030787.4(CFHR5):c.732C>T (p.Asn244=) rs41306229 0.00250
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg) rs41278047 0.00243
NM_000064.4(C3):c.4631-9C>T rs116302413 0.00242
NM_172351.3(CD46):c.926C>T (p.Pro309Leu) rs41317833 0.00241
NM_000064.4(C3):c.2394C>T (p.Ser798=) rs112178657 0.00237
NM_000186.4(CFH):c.3207T>C (p.Ser1069=) rs62641697 0.00219
NM_000064.4(C3):c.1686+20G>A rs76024222 0.00212
NM_000361.3(THBD):c.1502C>T (p.Pro501Leu) rs1800579 0.00193
NM_000064.4(C3):c.2245+15G>A rs11569434 0.00192
NM_000204.5(CFI):c.1443C>T (p.Val481=) rs114091883 0.00190
NM_000064.4(C3):c.2685C>T (p.Ser895=) rs138884408 0.00189
NM_000064.4(C3):c.3216G>T (p.Arg1072=) rs137880434 0.00183
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_172351.3(CD46):c.285T>C (p.Tyr95=) rs112089594 0.00175
NM_000204.5(CFI):c.916A>G (p.Ile306Val) rs113273712 0.00164
NM_000063.6(C2):c.2046A>G (p.Ala682=) rs45507391 0.00154
NM_000204.5(CFI):c.782G>A (p.Gly261Asp) rs112534524 0.00153
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609 0.00142
NM_000204.5(CFI):c.1657C>T (p.Pro553Ser) rs113460688 0.00134
NM_000063.6(C2):c.1778G>A (p.Arg593Gln) rs150878060 0.00133
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) rs145975787 0.00130
NM_000186.4(CFH):c.1707C>T (p.Cys569=) rs144976181 0.00129
NM_000064.4(C3):c.2067G>A (p.Glu689=) rs147477257 0.00118
NM_000361.3(THBD):c.*158G>A rs3176121 0.00118
NM_021023.6(CFHR3):c.805A>G (p.Ile269Val) rs139520520 0.00112
NM_000063.6(C2):c.1414G>A (p.Ala472Thr) rs142243595 0.00105
NM_000186.4(CFH):c.1935G>T (p.Thr645=) rs56035657 0.00105
NM_172351.3(CD46):c.1103C>T (p.Thr368Ile) rs146803767 0.00093
NM_000064.4(C3):c.1344C>T (p.Thr448=) rs150934856 0.00086
NM_000064.4(C3):c.4172+19G>A rs181489450 0.00086
NM_000064.4(C3):c.876+19G>A rs11569574 0.00068
NM_002292.4(LAMB2):c.816T>C (p.Tyr272=) rs151251039 0.00061
NM_000064.4(C3):c.2190C>T (p.Tyr730=) rs142455019 0.00055
NM_000186.4(CFH):c.2509G>A (p.Val837Ile) rs55807605 0.00050
NM_000186.4(CFH):c.2637A>G (p.Gly879=) rs55752475 0.00050
NM_000064.4(C3):c.1449C>T (p.His483=) rs140133060 0.00044
NM_000064.4(C3):c.1452G>A (p.Glu484=) rs146594928 0.00041
NM_000064.4(C3):c.1731T>C (p.Pro577=) rs148182019 0.00041
NM_000186.4(CFH):c.2821G>T (p.Val941Phe) rs529491401 0.00039
NM_000186.4(CFH):c.245-8C>T rs537160602 0.00038
NM_000186.4(CFH):c.3133+8G>T rs142718541 0.00036
NM_000204.5(CFI):c.319A>G (p.Thr107Ala) rs201419000 0.00036
NM_000361.3(THBD):c.1208G>A (p.Arg403Lys) rs41400249 0.00036
NM_000064.4(C3):c.4827C>T (p.Ser1609=) rs150537373 0.00035
NM_000064.4(C3):c.4824C>T (p.Ser1608=) rs139457470 0.00034
NM_000204.5(CFI):c.429C>T (p.Ser143=) rs112492491 0.00034
NM_000063.6(C2):c.1450A>G (p.Ile484Val) rs145988012 0.00031
NM_000186.4(CFH):c.3172T>C (p.Tyr1058His) rs55679475 0.00029
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu) rs55771831 0.00029
NM_000064.4(C3):c.3855C>T (p.Asp1285=) rs142359391 0.00027
NM_000064.4(C3):c.4635C>T (p.Tyr1545=) rs189948635 0.00026
NM_000361.3(THBD):c.-12C>T rs370548660 0.00026
NM_000186.4(CFH):c.3133+4C>G rs374729595 0.00025
NM_000063.6(C2):c.2080-8T>C rs201806170 0.00022
NM_000064.4(C3):c.4791G>A (p.Glu1597=) rs149675330 0.00021
NM_000186.4(CFH):c.1949G>T (p.Gly650Val) rs143237092 0.00021
NM_000064.4(C3):c.1650C>T (p.Ser550=) rs138835619 0.00019
NM_000064.4(C3):c.1923C>T (p.Asp641=) rs113044084 0.00019
NM_000064.4(C3):c.2354+19C>T rs192942944 0.00019
NM_000064.4(C3):c.774-4G>A rs368095422 0.00019
NM_000204.5(CFI):c.1430-19G>A rs377117137 0.00019
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_001710.6(CFB):c.2100C>T (p.Gly700=) rs116928087 0.00017
NM_000064.4(C3):c.2157G>A (p.Ala719=) rs143671993 0.00016
NM_000204.5(CFI):c.1581C>T (p.Gly527=) rs181378677 0.00015
NM_000064.4(C3):c.1722G>A (p.Gln574=) rs140143815 0.00014
NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg) rs201816520 0.00014
NM_000204.5(CFI):c.905-3T>C rs377535161 0.00014
NM_000361.3(THBD):c.*325T>C rs186669520 0.00014
NM_001710.6(CFB):c.291G>A (p.Glu97=) rs138236643 0.00014
NM_000064.4(C3):c.681C>T (p.Tyr227=) rs756694755 0.00012
NM_000063.6(C2):c.1577A>G (p.Lys526Arg) rs146054348 0.00011
NM_000064.4(C3):c.1480-10G>A rs200390075 0.00011
NM_000064.4(C3):c.2047+7G>A rs770932217 0.00011
NM_000064.4(C3):c.2991G>A (p.Ala997=) rs150763358 0.00011
NM_000064.4(C3):c.420C>A (p.Thr140=) rs182399298 0.00011
NM_000186.4(CFH):c.1548T>A (p.Asn516Lys) rs147403664 0.00010
NM_000204.5(CFI):c.705T>C (p.Ile235=) rs373891906 0.00010
NM_000064.4(C3):c.216G>A (p.Glu72=) rs375940408 0.00009
NM_000064.4(C3):c.4535G>A (p.Arg1512His) rs142868256 0.00009
NM_000064.4(C3):c.987C>T (p.Thr329=) rs748313429 0.00009
NM_000186.4(CFH):c.3045T>C (p.Thr1015=) rs147864267 0.00009
NM_000186.4(CFH):c.3318A>G (p.Thr1106=) rs1137971 0.00009
NM_172351.3(CD46):c.261A>G (p.Leu87=) rs115385712 0.00008
NM_000064.4(C3):c.2207G>A (p.Arg736Gln) rs578116271 0.00007
NM_000186.4(CFH):c.350+9T>C rs201686629 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_000063.6(C2):c.*304A>G rs72842444 0.00006
NM_000063.6(C2):c.1529G>A (p.Arg510His) rs45476300 0.00006
NM_000064.4(C3):c.1098A>G (p.Pro366=) rs757883156 0.00006
NM_000064.4(C3):c.1119+10G>A rs752328639 0.00006
NM_000064.4(C3):c.2441-7C>T rs372528487 0.00006
NM_000064.4(C3):c.3018C>T (p.Thr1006=) rs141373588 0.00006
NM_000064.4(C3):c.3858C>T (p.Ala1286=) rs751808949 0.00006
NM_000186.4(CFH):c.2056+16T>C rs777352172 0.00006
NM_000186.4(CFH):c.245-17T>A rs775088366 0.00006
NM_000186.4(CFH):c.3310+12T>C rs757045842 0.00006
NM_000204.5(CFI):c.129C>T (p.Cys43=) rs146462954 0.00006
NM_000204.5(CFI):c.482+7G>A rs765922749 0.00006
NM_000064.4(C3):c.1854C>T (p.Asp618=) rs570503574 0.00005
NM_000064.4(C3):c.3953T>G (p.Leu1318Arg) rs769873702 0.00005
NM_000064.4(C3):c.4471C>T (p.Arg1491Trp) rs140928439 0.00005
NM_000186.4(CFH):c.2085T>A (p.Pro695=) rs777482186 0.00005
NM_000186.4(CFH):c.59-16T>C rs201067374 0.00005
NM_000204.5(CFI):c.1044+8C>T rs190420174 0.00005
NM_000204.5(CFI):c.57+4A>G rs757464411 0.00005
NM_000204.5(CFI):c.729T>A (p.Gly243=) rs749140698 0.00005
NM_001710.6(CFB):c.1778+8C>T rs148298609 0.00005
NM_000186.4(CFH):c.2236+18A>G rs749643506 0.00004
NM_000186.4(CFH):c.2596+8G>T rs375176505 0.00004
NM_000186.4(CFH):c.2957-15T>C rs756514818 0.00004
NM_000186.4(CFH):c.807T>C (p.Asn269=) rs757654697 0.00004
NM_000186.4(CFH):c.907C>T (p.Arg303Trp) rs142937931 0.00004
NM_000186.4(CFH):c.964+18C>A rs1258420173 0.00004
NM_000204.5(CFI):c.603A>C (p.Arg201Ser) rs145769028 0.00004
NM_000361.3(THBD):c.277C>A (p.Pro93Thr) rs754342536 0.00004
NM_001710.6(CFB):c.604C>T (p.Arg202Trp) rs537478097 0.00004
NM_000064.4(C3):c.1164C>T (p.Pro388=) rs769368306 0.00003
NM_000064.4(C3):c.3702C>T (p.Ser1234=) rs754607975 0.00003
NM_000064.4(C3):c.4350+7C>A rs148695501 0.00003
NM_000064.4(C3):c.4457-13C>T rs375382978 0.00003
NM_000064.4(C3):c.4546+18G>A rs377076572 0.00003
NM_000186.4(CFH):c.2868G>A (p.Thr956=) rs533238588 0.00003
NM_000186.4(CFH):c.770G>A (p.Arg257His) rs140107330 0.00003
NM_000204.5(CFI):c.1429+8T>C rs184313022 0.00003
NM_000204.5(CFI):c.309C>T (p.Asn103=) rs761425840 0.00003
NM_000361.3(THBD):c.1083G>A (p.Glu361=) rs370377519 0.00003
NM_030787.4(CFHR5):c.329T>C (p.Val110Ala) rs140691305 0.00003
NM_000064.4(C3):c.1479+13C>G rs368352750 0.00002
NM_000064.4(C3):c.3015G>T (p.Val1005=) rs1340489185 0.00002
NM_000064.4(C3):c.3647-13A>G rs760807491 0.00002
NM_000186.4(CFH):c.2427A>G (p.Gln809=) rs758809077 0.00002
NM_000186.4(CFH):c.3156C>T (p.Pro1052=) rs764539113 0.00002
NM_000186.4(CFH):c.906C>G (p.Thr302=) rs148552495 0.00002
NM_000204.5(CFI):c.1378C>T (p.Leu460=) rs1026187949 0.00002
NM_000204.5(CFI):c.546A>G (p.Leu182=) rs992376160 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.1047G>C (p.Val349=) rs747191565 0.00001
NM_000064.4(C3):c.1296G>A (p.Ser432=) rs760150621 0.00001
NM_000064.4(C3):c.1491G>A (p.Lys497=) rs768360920 0.00001
NM_000064.4(C3):c.2118G>A (p.Ser706=) rs755973774 0.00001
NM_000064.4(C3):c.2583+13G>A rs774609150 0.00001
NM_000064.4(C3):c.3489+18T>C rs747517809 0.00001
NM_000064.4(C3):c.3546C>T (p.Asn1182=) rs189353964 0.00001
NM_000064.4(C3):c.4155C>T (p.Ile1385=) rs563352895 0.00001
NM_000064.4(C3):c.4631-6C>T rs775109096 0.00001
NM_000064.4(C3):c.4665C>G (p.Ser1555=) rs542668902 0.00001
NM_000064.4(C3):c.4759C>T (p.Pro1587Ser) rs746985605 0.00001
NM_000064.4(C3):c.4850+12C>A rs748416799 0.00001
NM_000064.4(C3):c.4941G>A (p.Gln1647=) rs780251209 0.00001
NM_000186.4(CFH):c.2236+10C>G rs755790229 0.00001
NM_000186.4(CFH):c.2946A>G (p.Pro982=) rs553471643 0.00001
NM_000186.4(CFH):c.849A>G (p.Lys283=) rs771886590 0.00001
NM_000204.5(CFI):c.12T>A (p.Leu4=) rs777304665 0.00001
NM_000204.5(CFI):c.1656A>G (p.Lys552=) rs1308386684 0.00001
NM_000204.5(CFI):c.1661A>T (p.Glu554Val) rs754572081 0.00001
NM_000204.5(CFI):c.540A>G (p.Glu180=) rs759777516 0.00001
NM_000361.3(THBD):c.1517C>A (p.Thr506Asn) rs572623850 0.00001
NM_000361.3(THBD):c.920C>T (p.Ser307Leu) rs372556297 0.00001
NM_000064.4(C3):c.-3_-2dup rs528697923
NM_000064.4(C3):c.1920C>T (p.Ser640=) rs139693406
NM_000064.4(C3):c.4547-16C>G rs1414347444
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) rs149202905
NM_000064.4(C3):c.4645C>T (p.Leu1549=) rs149202905
NM_000064.4(C3):c.683-4C>G rs377240996
NM_000064.4(C3):c.975C>T (p.Tyr325=) rs1301665029
NM_000186.4(CFH):c.1617T>C (p.Gly539=)
NM_000186.4(CFH):c.1735G>A (p.Val579Ile)
NM_000186.4(CFH):c.1935G>A (p.Thr645=) rs56035657
NM_000186.4(CFH):c.245-11_245-9dup rs35507625
NM_000186.4(CFH):c.245-9del rs35507625
NM_000186.4(CFH):c.245-9dup rs35507625
NM_000186.4(CFH):c.2783-3dup rs748791414
NM_000186.4(CFH):c.318T>C (p.Tyr106=) rs1448752091
NM_000186.4(CFH):c.350+15C>T rs190197472
NM_000204.5(CFI):c.192G>C (p.Pro64=) rs571265769
NM_000204.5(CFI):c.329-14dup rs754551276
NM_000204.5(CFI):c.329-8del
NM_000204.5(CFI):c.482+6C>A rs79375065
NM_000361.3(THBD):c.1057C>A (p.Pro353Thr)
NM_001201550.3(CFHR4):c.128A>T (p.Tyr43Phe)
NM_001710.5(CFB):c.-186delG rs796979529
NM_005666.4(CFHR2):c.212C>T (p.Thr71Met)
NM_005666.4(CFHR2):c.791A>G (p.Tyr264Cys)
NM_021023.6(CFHR3):c.934A>T (p.Ile312Phe) rs73073594
NM_030787.4(CFHR5):c.1264C>G (p.Leu422Val)
NM_030787.4(CFHR5):c.1541T>G (p.Met514Arg) rs141321678
NM_030787.4(CFHR5):c.643T>C (p.Ser215Pro)
NM_030787.4(CFHR5):c.683G>C (p.Gly228Ala)
NM_172351.3(CD46):c.286+27del rs371729129

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