ClinVar Miner

List of variants studied for complement deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 435
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HGVS dbSNP gnomAD frequency
NM_000065.5(C6):c.1881C>T (p.Asp627=) rs6866352 0.99985
NM_001710.5(CFB):c.94C>T (p.Arg32Trp) rs12614 0.17324
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp) rs1065489 0.14779
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153 0.11820
NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp) rs1800450 0.11335
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_000063.6(C2):c.954G>C (p.Glu318Asp) rs9332739 0.03307
NM_021023.6(CFHR3):c.424C>T (p.Arg142Cys) rs61737525 0.02034
NM_000186.4(CFH):c.2236+8T>A rs7537967 0.01429
NM_021023.6(CFHR3):c.720G>C (p.Gln240His) rs149347641 0.01005
NM_000204.5(CFI):c.1534+5G>T rs114013791 0.00951
NM_001710.6(CFB):c.1137C>T (p.Arg379=) rs45600936 0.00911
NM_000065.5(C6):c.1189A>G (p.Lys397Glu) rs6896011 0.00878
NM_021023.6(CFHR3):c.101T>G (p.Phe34Cys) rs61737523 0.00809
NM_002113.3(CFHR1):c.19del (p.Ser6_Val7insTer) rs769938205 0.00770
NM_000186.4(CFH):c.1159+19T>G rs35695425 0.00756
NM_000065.5(C6):c.2087A>G (p.Asp696Gly) rs41271067 0.00752
NM_000064.4(C3):c.1976-19C>T rs11569433 0.00656
NM_000204.5(CFI):c.1206C>T (p.Pro402=) rs115780371 0.00646
NM_000065.5(C6):c.542C>T (p.Thr181Ile) rs114609505 0.00539
NM_001735.3(C5):c.3098T>C (p.Ile1033Thr) rs41311881 0.00529
NM_000064.4(C3):c.1119+15G>A rs114252882 0.00399
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_172351.3(CD46):c.796G>A (p.Asp266Asn) rs17006830 0.00369
NM_001735.3(C5):c.3033G>C (p.Glu1011Asp) rs150096192 0.00349
NM_000562.3(C8A):c.1331G>A (p.Arg444His) rs143908758 0.00334
NM_000065.5(C6):c.1879del (p.Asp627fs) rs61469168 0.00328
NM_000186.4(CFH):c.428-14T>C rs184188486 0.00271
NM_000186.4(CFH):c.3150T>C (p.Asn1050=) rs113347629 0.00269
NM_000064.4(C3):c.4878T>C (p.Thr1626=) rs1803223 0.00261
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257 0.00250
NM_003665.4(FCN3):c.750C>T (p.His250=) rs28385652 0.00249
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_000065.5(C6):c.1138del (p.Gln380fs) rs375762365 0.00206
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_000065.5(C6):c.1695C>T (p.Asp565=) rs79523005 0.00189
NM_000587.4(C7):c.1341G>A (p.Glu447=) rs150696042 0.00183
NM_001735.3(C5):c.2059+16T>A rs199849879 0.00171
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_003665.4(FCN3):c.232+1G>A rs141300199 0.00153
NM_001735.3(C5):c.921C>G (p.Val307=) rs62640871 0.00148
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609 0.00142
NM_001735.3(C5):c.3303T>C (p.Cys1101=) rs145979468 0.00142
NM_000065.5(C6):c.821del (p.Gln274fs) rs557023458 0.00131
NM_000562.3(C8A):c.606T>C (p.Asp202=) rs150755683 0.00121
NM_000066.4(C8B):c.1282C>T (p.Arg428Ter) rs41286844 0.00118
NM_021023.6(CFHR3):c.805A>G (p.Ile269Val) rs139520520 0.00112
NM_001735.3(C5):c.4762+14C>T rs372929361 0.00108
NM_000186.4(CFH):c.1935G>T (p.Thr645=) rs56035657 0.00105
NM_001735.3(C5):c.5031A>G (p.Ter1677=) rs140229894 0.00105
NM_000065.5(C6):c.933T>C (p.Ser311=) rs75043846 0.00103
NM_000587.4(C7):c.1258A>C (p.Lys420Gln) rs3792646 0.00103
NM_001735.3(C5):c.1418A>G (p.His473Arg) rs78640581 0.00093
NM_001737.5(C9):c.974C>T (p.Ala325Val) rs147068084 0.00093
NM_000587.4(C7):c.405del (p.Asn136fs) rs139491301 0.00088
NM_003665.4(FCN3):c.498G>C (p.Glu166Asp) rs56405086 0.00087
NM_000064.4(C3):c.1344C>T (p.Thr448=) rs150934856 0.00086
NM_000064.4(C3):c.4172+19G>A rs181489450 0.00086
NM_001735.3(C5):c.306G>A (p.Val102=) rs151322743 0.00082
NM_001735.3(C5):c.450C>T (p.Asp150=) rs141829974 0.00081
NM_000587.4(C7):c.1852C>T (p.Arg618Trp) rs202140226 0.00073
NM_001735.3(C5):c.267A>C (p.Pro89=) rs758128814 0.00069
NM_000064.4(C3):c.876+19G>A rs11569574 0.00068
NM_001735.3(C5):c.3230+17G>C rs374404058 0.00060
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_000065.5(C6):c.1999G>C (p.Asp667His) rs184169749 0.00048
NM_001735.3(C5):c.4899C>T (p.Phe1633=) rs149147126 0.00047
NM_000064.4(C3):c.1449C>T (p.His483=) rs140133060 0.00044
NM_001734.5(C1S):c.100A>G (p.Ser34Gly) rs148105120 0.00043
NM_001735.3(C5):c.55C>T (p.Gln19Ter) rs121909587 0.00043
NM_000186.4(CFH):c.1825G>A (p.Val609Ile) rs148165372 0.00042
NM_001735.3(C5):c.4785C>T (p.Asp1595=) rs79033710 0.00042
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_000204.5(CFI):c.429C>T (p.Ser143=) rs112492491 0.00034
NM_001734.5(C1S):c.979G>C (p.Val327Leu) rs2239170 0.00032
NM_000064.4(C3):c.1909G>C (p.Gly637Arg) rs149850773 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_001735.3(C5):c.1929C>G (p.Ala643=) rs56371452 0.00029
NM_000063.6(C2):c.749C>G (p.Ser250Cys) rs150827255 0.00027
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_000186.4(CFH):c.3079G>C (p.Ala1027Pro) rs373385518 0.00026
NM_000361.3(THBD):c.302G>C (p.Arg101Pro) rs546519295 0.00025
NM_000204.5(CFI):c.1216C>T (p.Arg406Cys) rs181729783 0.00024
NM_000066.4(C8B):c.271C>T (p.Gln91Ter) rs146187042 0.00023
NM_000064.4(C3):c.4791G>A (p.Glu1597=) rs149675330 0.00021
NM_000065.5(C6):c.143G>A (p.Arg48Lys) rs145422926 0.00021
NM_000361.3(THBD):c.866A>T (p.Asn289Ile) rs143748797 0.00021
NM_001735.3(C5):c.2059+3A>G rs374867185 0.00021
NM_001735.3(C5):c.4321G>T (p.Ala1441Ser) rs143886761 0.00021
NM_001734.5(C1S):c.1600C>T (p.Arg534Trp) rs121909582 0.00020
NM_001735.3(C5):c.667+8C>G rs375251377 0.00020
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_000186.4(CFH):c.1198C>A (p.Gln400Lys) rs201671665 0.00019
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_000204.5(CFI):c.1430-19G>A rs377117137 0.00019
NM_001735.3(C5):c.4426C>T (p.Arg1476Ter) rs121909588 0.00018
NM_000587.4(C7):c.659G>A (p.Arg220Gln) rs369349760 0.00017
NM_001710.6(CFB):c.2100C>T (p.Gly700=) rs116928087 0.00017
NM_000587.4(C7):c.605A>G (p.Asn202Ser) rs199587630 0.00016
NM_001735.3(C5):c.4018-18T>A rs762212329 0.00016
NM_001735.3(C5):c.4713A>G (p.Glu1571=) rs141660654 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_000064.4(C3):c.4667A>G (p.Asn1556Ser) rs139381845 0.00014
NM_000186.4(CFH):c.472G>A (p.Val158Ile) rs141852866 0.00014
NM_000204.5(CFI):c.772G>A (p.Ala258Thr) rs199688124 0.00014
NM_000587.4(C7):c.1451C>T (p.Ala484Val) rs369097905 0.00014
NM_001735.3(C5):c.2715T>C (p.Ile905=) rs139794186 0.00014
NM_001735.3(C5):c.4504+4A>G rs137867011 0.00014
NM_000065.5(C6):c.1786C>T (p.Arg596Ter) rs142881576 0.00013
NM_001735.3(C5):c.4016A>G (p.Glu1339Gly) rs569871287 0.00013
NM_001737.5(C9):c.355T>G (p.Cys119Gly) rs121909593 0.00013
NM_000204.5(CFI):c.338G>A (p.Ser113Asn) rs150610189 0.00012
NM_001735.3(C5):c.1424C>T (p.Ala475Val) rs151271738 0.00012
NM_000064.4(C3):c.1027C>T (p.Arg343Cys) rs772505177 0.00011
NM_000064.4(C3):c.1273C>T (p.Arg425Cys) rs200967589 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.2204G>A (p.Arg735Gln) rs201285239 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_000065.5(C6):c.1205T>C (p.Ile402Thr) rs139261476 0.00011
NM_000186.4(CFH):c.2488C>T (p.Arg830Trp) rs62641696 0.00011
NM_000186.4(CFH):c.476G>A (p.Ser159Asn) rs370640334 0.00011
NM_001735.3(C5):c.2420C>T (p.Thr807Ile) rs372326645 0.00011
NM_001735.3(C5):c.3059A>G (p.Tyr1020Cys) rs768907431 0.00011
NM_001735.3(C5):c.423A>G (p.Val141=) rs545714459 0.00011
NM_000186.4(CFH):c.2461C>T (p.His821Tyr) rs367687415 0.00010
NM_000186.4(CFH):c.332T>A (p.Val111Glu) rs576819823 0.00010
NM_000204.5(CFI):c.705T>C (p.Ile235=) rs373891906 0.00010
NM_000361.3(THBD):c.1700G>A (p.Arg567Gln) rs368774068 0.00010
NM_001735.3(C5):c.1541C>T (p.Thr514Met) rs199664327 0.00010
NM_001735.3(C5):c.2272T>C (p.Leu758=) rs143840189 0.00010
NM_001735.3(C5):c.3732G>A (p.Thr1244=) rs201280694 0.00010
NM_001735.3(C5):c.5011A>G (p.Ile1671Val) rs374914766 0.00010
NM_000062.3(SERPING1):c.997G>A (p.Ala333Thr) rs202192543 0.00009
NM_000064.4(C3):c.1686G>A (p.Ser562=) rs143750180 0.00009
NM_000064.4(C3):c.216G>A (p.Glu72=) rs375940408 0.00009
NM_000064.4(C3):c.3655C>T (p.Arg1219Cys) rs373102036 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_000204.5(CFI):c.454G>A (p.Val152Met) rs367677199 0.00009
NM_001735.3(C5):c.3199A>C (p.Ser1067Arg) rs377417930 0.00009
NM_001735.3(C5):c.3659-6G>A rs201384752 0.00009
NM_001735.3(C5):c.4924T>G (p.Leu1642Val) rs762245967 0.00009
NM_000204.5(CFI):c.193T>C (p.Tyr65His) rs774783110 0.00008
NM_001735.3(C5):c.2653C>T (p.Arg885Cys) rs373359894 0.00008
NM_001735.3(C5):c.5005G>A (p.Glu1669Lys) rs758052311 0.00008
NM_172351.3(CD46):c.261A>G (p.Leu87=) rs115385712 0.00008
NM_000064.4(C3):c.2951-5T>C rs375107570 0.00007
NM_000064.4(C3):c.3124C>T (p.Arg1042Trp) rs550043629 0.00007
NM_000186.4(CFH):c.350+9T>C rs201686629 0.00007
NM_001735.3(C5):c.3731C>T (p.Thr1244Met) rs754562499 0.00007
NM_001735.3(C5):c.928C>T (p.Leu310=) rs375870111 0.00007
NM_000064.4(C3):c.2248A>T (p.Asn750Tyr) rs769294331 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.1922T>C (p.Val641Ala) rs371768180 0.00006
NM_000186.4(CFH):c.2056+16T>C rs777352172 0.00006
NM_000186.4(CFH):c.2195C>T (p.Thr732Met) rs201360629 0.00006
NM_000186.4(CFH):c.245-17T>A rs775088366 0.00006
NM_000204.5(CFI):c.130G>A (p.Asp44Asn) rs374036714 0.00006
NM_000204.5(CFI):c.1533A>G (p.Ala511=) rs369715801 0.00006
NM_000204.5(CFI):c.325G>A (p.Glu109Lys) rs748098641 0.00006
NM_000204.5(CFI):c.482+7G>A rs765922749 0.00006
NM_000204.5(CFI):c.949C>T (p.Arg317Trp) rs121964917 0.00006
NM_000587.4(C7):c.1135G>C (p.Gly379Arg) rs121964921 0.00006
NM_001734.5(C1S):c.622T>C (p.Leu208=) rs144205018 0.00006
NM_001735.3(C5):c.1481A>G (p.Asp494Gly) rs373646644 0.00006
NM_001735.3(C5):c.2033C>T (p.Thr678Met) rs138509814 0.00006
NM_001735.3(C5):c.3068A>G (p.His1023Arg) rs760863207 0.00006
NM_001735.3(C5):c.4654G>A (p.Ala1552Thr) rs147051026 0.00006
NM_001735.3(C5):c.600G>A (p.Thr200=) rs369786622 0.00006
NM_000064.4(C3):c.1854C>T (p.Asp618=) rs570503574 0.00005
NM_000064.4(C3):c.3096G>C (p.Glu1032Asp) rs148698696 0.00005
NM_000064.4(C3):c.3131G>A (p.Gly1044Glu) rs373392964 0.00005
NM_000064.4(C3):c.4084G>A (p.Asp1362Asn) rs368788004 0.00005
NM_000186.4(CFH):c.3160G>A (p.Val1054Ile) rs757426928 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.1150G>A (p.Ala384Thr) rs762315947 0.00005
NM_000204.5(CFI):c.729T>A (p.Gly243=) rs749140698 0.00005
NM_000361.3(THBD):c.1406A>G (p.Asp469Gly) rs373741115 0.00005
NM_001710.6(CFB):c.1778+8C>T rs148298609 0.00005
NM_001735.3(C5):c.2686G>T (p.Val896Leu) rs370940275 0.00005
NM_001735.3(C5):c.407C>A (p.Thr136Asn) rs776192715 0.00005
NM_001735.3(C5):c.4205T>C (p.Ile1402Thr) rs371503868 0.00005
NM_000064.4(C3):c.1274G>T (p.Arg425Leu) rs201714568 0.00004
NM_000064.4(C3):c.2668C>T (p.Pro890Ser) rs531463049 0.00004
NM_000064.4(C3):c.305G>A (p.Arg102His) rs554587967 0.00004
NM_000064.4(C3):c.769G>A (p.Ala257Thr) rs200918899 0.00004
NM_000064.4(C3):c.944G>A (p.Arg315Gln) rs761503659 0.00004
NM_000186.4(CFH):c.1998G>T (p.Lys666Asn) rs752859825 0.00004
NM_000186.4(CFH):c.2236+18A>G rs749643506 0.00004
NM_000186.4(CFH):c.2957-15T>C rs756514818 0.00004
NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr) rs11539862 0.00004
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) rs121913054 0.00004
NM_000186.4(CFH):c.807T>C (p.Asn269=) rs757654697 0.00004
NM_000186.4(CFH):c.964+18C>A rs1258420173 0.00004
NM_000204.5(CFI):c.1429+1G>C rs368555424 0.00004
NM_000204.5(CFI):c.1532C>T (p.Ala511Val) rs760801046 0.00004
NM_000204.5(CFI):c.559C>T (p.Arg187Ter) rs368615806 0.00004
NM_000204.5(CFI):c.950G>A (p.Arg317Gln) rs751111134 0.00004
NM_000361.3(THBD):c.277C>A (p.Pro93Thr) rs754342536 0.00004
NM_000361.3(THBD):c.289G>A (p.Gly97Ser) rs1239586434 0.00004
NM_000587.4(C7):c.1244A>G (p.Gln415Arg) rs370190257 0.00004
NM_001710.6(CFB):c.1374G>A (p.Met458Ile) rs200837114 0.00004
NM_001735.3(C5):c.116T>C (p.Ile39Thr) rs1228951703 0.00004
NM_001735.3(C5):c.1816G>A (p.Asp606Asn) rs775286780 0.00004
NM_001735.3(C5):c.3277G>A (p.Val1093Ile) rs371131390 0.00004
NM_001735.3(C5):c.441G>A (p.Ser147=) rs376535022 0.00004
NM_001735.3(C5):c.4679-2A>G rs191466386 0.00004
NM_172351.3(CD46):c.286+2T>G rs769742294 0.00004
NM_000064.4(C3):c.3702C>T (p.Ser1234=) rs754607975 0.00003
NM_000064.4(C3):c.4029G>A (p.Ser1343=) rs190354796 0.00003
NM_000064.4(C3):c.4177C>T (p.Arg1393Trp) rs148227405 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_000064.4(C3):c.4906G>C (p.Glu1636Gln) rs139388954 0.00003
NM_000186.4(CFH):c.2868G>A (p.Thr956=) rs533238588 0.00003
NM_000186.4(CFH):c.526T>C (p.Phe176Leu) rs762132970 0.00003
NM_000186.4(CFH):c.647T>C (p.Ile216Thr) rs183474263 0.00003
NM_000204.5(CFI):c.1429+8T>C rs184313022 0.00003
NM_000204.5(CFI):c.1709G>C (p.Ser570Thr) rs200973120 0.00003
NM_000204.5(CFI):c.80_81del (p.Asp27fs) rs886043418 0.00003
NM_000361.3(THBD):c.116A>T (p.Tyr39Phe) rs776866172 0.00003
NM_000361.3(THBD):c.1614C>A (p.His538Gln) rs1436540579 0.00003
NM_001710.6(CFB):c.-3G>A rs755016493 0.00003
NM_001735.3(C5):c.1125T>G (p.Val375=) rs778186090 0.00003
NM_001735.3(C5):c.1717-5T>C rs779247145 0.00003
NM_001735.3(C5):c.1947T>C (p.Ala649=) rs768999689 0.00003
NM_001735.3(C5):c.3413G>A (p.Arg1138Gln) rs779879112 0.00003
NM_001735.3(C5):c.4127G>A (p.Ser1376Asn) rs764508773 0.00003
NM_001735.3(C5):c.435T>A (p.Val145=) rs760334587 0.00003
NM_000064.4(C3):c.1479+13C>G rs368352750 0.00002
NM_000064.4(C3):c.1835C>T (p.Thr612Met) rs201572752 0.00002
NM_000064.4(C3):c.283G>A (p.Glu95Lys) rs746332934 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_000064.4(C3):c.4484C>T (p.Pro1495Leu) rs368362113 0.00002
NM_000066.4(C8B):c.1606G>A (p.Val536Ile) rs377623911 0.00002
NM_000186.4(CFH):c.122C>T (p.Thr41Ile) rs1192717326 0.00002
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter) rs150694809 0.00002
NM_000186.4(CFH):c.2456A>G (p.Asn819Ser) rs781393769 0.00002
NM_000186.4(CFH):c.906C>G (p.Thr302=) rs148552495 0.00002
NM_000204.5(CFI):c.1063G>A (p.Val355Met) rs1250103299 0.00002
NM_000204.5(CFI):c.1378C>T (p.Leu460=) rs1026187949 0.00002
NM_000204.5(CFI):c.205A>G (p.Lys69Glu) rs771325547 0.00002
NM_000204.5(CFI):c.530A>T (p.Asn177Ile) rs753060374 0.00002
NM_000204.5(CFI):c.546A>G (p.Leu182=) rs992376160 0.00002
NM_000204.5(CFI):c.773-3C>T rs375483832 0.00002
NM_000361.3(THBD):c.1678G>C (p.Glu560Gln) rs201487514 0.00002
NM_000361.3(THBD):c.415G>T (p.Ala139Ser) rs982068192 0.00002
NM_001735.3(C5):c.1716+7C>G rs764673418 0.00002
NM_001735.3(C5):c.2177A>G (p.Lys726Arg) rs369235335 0.00002
NM_001735.3(C5):c.2206A>G (p.Ser736Gly) rs778780304 0.00002
NM_001735.3(C5):c.2491T>C (p.Tyr831His) rs1352441352 0.00002
NM_001735.3(C5):c.314A>C (p.Glu105Ala) rs754822238 0.00002
NM_001735.3(C5):c.4162+20C>T rs56094365 0.00002
NM_001735.3(C5):c.4693A>G (p.Ile1565Val) rs375352964 0.00002
NM_172351.3(CD46):c.535G>C (p.Glu179Gln) rs779174212 0.00002
NM_000064.4(C3):c.1047G>C (p.Val349=) rs747191565 0.00001
NM_000064.4(C3):c.1433G>T (p.Arg478Leu) rs747968673 0.00001
NM_000064.4(C3):c.1491G>A (p.Lys497=) rs768360920 0.00001
NM_000064.4(C3):c.1887G>A (p.Pro629=) rs747150559 0.00001
NM_000064.4(C3):c.1999G>A (p.Ala667Thr) rs199535288 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.3242A>G (p.Tyr1081Cys) rs531259592 0.00001
NM_000064.4(C3):c.3400C>T (p.Arg1134Trp) rs138900723 0.00001
NM_000064.4(C3):c.3401G>A (p.Arg1134Gln) rs777904423 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.3593A>G (p.Gln1198Arg) rs372976419 0.00001
NM_000064.4(C3):c.3754G>A (p.Val1252Ile) rs537300095 0.00001
NM_000064.4(C3):c.3757G>A (p.Val1253Met) rs769164285 0.00001
NM_000064.4(C3):c.4155C>T (p.Ile1385=) rs563352895 0.00001
NM_000064.4(C3):c.4348A>C (p.Lys1450Gln) rs191489530 0.00001
NM_000064.4(C3):c.452C>G (p.Thr151Ser) rs1968082456 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.899T>C (p.Val300Ala) rs756370451 0.00001
NM_000064.4(C3):c.976G>A (p.Val326Met) rs375264020 0.00001
NM_000066.4(C8B):c.1438G>A (p.Ala480Thr) rs924523629 0.00001
NM_000066.4(C8B):c.725G>A (p.Arg242His) rs369993264 0.00001
NM_000186.4(CFH):c.100A>T (p.Thr34Ser) rs1389897706 0.00001
NM_000186.4(CFH):c.1357A>T (p.Ile453Leu) rs1450633243 0.00001
NM_000186.4(CFH):c.1474A>G (p.Ile492Val) rs892717090 0.00001
NM_000186.4(CFH):c.157C>T (p.Arg53Cys) rs757785149 0.00001
NM_000186.4(CFH):c.1612G>C (p.Asp538His) rs778051521 0.00001
NM_000186.4(CFH):c.1697-3A>C rs778174105 0.00001
NM_000186.4(CFH):c.1744C>T (p.Arg582Cys) rs144696019 0.00001
NM_000186.4(CFH):c.2047G>A (p.Val683Met) rs573295841 0.00001
NM_000186.4(CFH):c.2151C>A (p.Phe717Leu) rs763441589 0.00001
NM_000186.4(CFH):c.2236+10C>G rs755790229 0.00001
NM_000186.4(CFH):c.2416G>T (p.Ala806Ser) rs753331225 0.00001
NM_000186.4(CFH):c.2946A>G (p.Pro982=) rs553471643 0.00001
NM_000186.4(CFH):c.3130A>G (p.Arg1044Gly) rs1366929531 0.00001
NM_000186.4(CFH):c.3134-7T>C rs779166622 0.00001
NM_000186.4(CFH):c.3358A>T (p.Ile1120Phe) rs771435716 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000186.4(CFH):c.849A>G (p.Lys283=) rs771886590 0.00001
NM_000186.4(CFH):c.889G>A (p.Gly297Ser) rs764573258 0.00001
NM_000204.5(CFI):c.1016G>A (p.Arg339Gln) rs773085612 0.00001
NM_000204.5(CFI):c.12T>A (p.Leu4=) rs777304665 0.00001
NM_000204.5(CFI):c.1399T>C (p.Cys467Arg) rs1724402529 0.00001
NM_000204.5(CFI):c.1479C>A (p.Ser493Arg) rs780759494 0.00001
NM_000204.5(CFI):c.1656A>G (p.Lys552=) rs1308386684 0.00001
NM_000204.5(CFI):c.1A>G (p.Met1Val) rs770655669 0.00001
NM_000204.5(CFI):c.424A>C (p.Lys142Gln) rs762431670 0.00001
NM_000204.5(CFI):c.439A>G (p.Met147Val) rs760787282 0.00001
NM_000204.5(CFI):c.540A>G (p.Glu180=) rs759777516 0.00001
NM_000204.5(CFI):c.662C>A (p.Ser221Tyr) rs377528991 0.00001
NM_000204.5(CFI):c.848A>G (p.Asp283Gly) rs756201106 0.00001
NM_000361.3(THBD):c.119C>T (p.Pro40Leu) rs766710327 0.00001
NM_000361.3(THBD):c.1319C>T (p.Thr440Met) rs1438620913 0.00001
NM_000361.3(THBD):c.1499C>T (p.Thr500Met) rs753344243 0.00001
NM_000361.3(THBD):c.1517C>A (p.Thr506Asn) rs572623850 0.00001
NM_000361.3(THBD):c.1519C>T (p.Pro507Ser) rs775671453 0.00001
NM_000361.3(THBD):c.1546G>C (p.Gly516Arg) rs138861385 0.00001
NM_000361.3(THBD):c.236G>C (p.Gly79Ala) rs1800577 0.00001
NM_000361.3(THBD):c.247C>G (p.Arg83Gly) rs748313651 0.00001
NM_000361.3(THBD):c.77G>C (p.Gly26Ala) rs757422951 0.00001
NM_001735.3(C5):c.1001-6C>T rs577620735 0.00001
NM_001735.3(C5):c.1358G>A (p.Arg453Gln) rs768081493 0.00001
NM_001735.3(C5):c.1407G>A (p.Trp469Ter) rs1408798589 0.00001
NM_001735.3(C5):c.1704C>T (p.Gly568=) rs758651657 0.00001
NM_001735.3(C5):c.1866+12C>A rs113503759 0.00001
NM_001735.3(C5):c.2037G>A (p.Leu679=) rs2047296479 0.00001
NM_001735.3(C5):c.2059+10G>A rs371850097 0.00001
NM_001735.3(C5):c.2257+1G>A rs750416999 0.00001
NM_001735.3(C5):c.2543A>G (p.Tyr848Cys) rs1288535384 0.00001
NM_001735.3(C5):c.2942-16A>T rs1026823552 0.00001
NM_001735.3(C5):c.4081-6A>G rs563554052 0.00001
NM_001735.3(C5):c.4247C>T (p.Ser1416Leu) rs148636828 0.00001
NM_001735.3(C5):c.4489G>A (p.Glu1497Lys) rs376245744 0.00001
NM_001735.3(C5):c.572C>T (p.Pro191Leu) rs200524363 0.00001
NM_001735.3(C5):c.691A>G (p.Ile231Val) rs753870842 0.00001
NM_001735.3(C5):c.698C>T (p.Pro233Leu) rs531284110 0.00001
NM_001735.3(C5):c.792C>T (p.Asp264=) rs751759129 0.00001
NM_001735.3(C5):c.975T>A (p.Ile325=) rs370834994 0.00001
NM_172351.3(CD46):c.118A>G (p.Thr40Ala) rs753924720 0.00001
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His) rs121907948
NM_000063.6(C2):c.1567+22_1567+43del rs541057516
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000064.4(C3):c.1402G>A (p.Gly468Arg) rs148820222
NM_000064.4(C3):c.1775G>A (p.Arg592Gln) rs121909583
NM_000064.4(C3):c.1920C>T (p.Ser640=) rs139693406
NM_000064.4(C3):c.2326G>C (p.Glu776Gln) rs2145417819
NM_000064.4(C3):c.373dup (p.Leu125fs) rs1337559480
NM_000064.4(C3):c.453C>T (p.Thr151=) rs148870667
NM_000064.4(C3):c.4547-16C>G rs1414347444
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) rs149202905
NM_000064.4(C3):c.683-4C>G rs377240996
NM_000064.4(C3):c.965A>G (p.Lys322Arg) rs746892541
NM_000064.4(C3):c.975C>T (p.Tyr325=) rs1301665029
NM_000065.5(C6):c.1219C>T (p.Arg407Cys) rs147449601
NM_000065.5(C6):c.2335_2336del (p.Gln779fs) rs771792933
NM_000066.4(C8B):c.1355G>C (p.Trp452Ser) rs200077558
NM_000186.4(CFH):c.1511C>T (p.Thr504Met) rs377008918
NM_000186.4(CFH):c.1699A>G (p.Arg567Gly) rs757756991
NM_000186.4(CFH):c.1935G>A (p.Thr645=) rs56035657
NM_000186.4(CFH):c.2054T>C (p.Ile685Thr) rs1431491220
NM_000186.4(CFH):c.2072G>C (p.Cys691Ser) rs2149108610
NM_000186.4(CFH):c.213G>A (p.Trp71Ter) rs1210674261
NM_000186.4(CFH):c.245-10_245-9dup rs35507625
NM_000186.4(CFH):c.245-9del rs35507625
NM_000186.4(CFH):c.245-9dup rs35507625
NM_000186.4(CFH):c.318T>C (p.Tyr106=) rs1448752091
NM_000186.4(CFH):c.350+15C>T rs190197472
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000186.4(CFH):c.497G>A (p.Arg166Gln) rs770339409
NM_000186.4(CFH):c.497G>T (p.Arg166Leu) rs770339409
NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs) rs758049059
NM_000204.5(CFI):c.1233C>A (p.Tyr411Ter) rs752671716
NM_000204.5(CFI):c.1291G>T (p.Ala431Ser) rs758017357
NM_000204.5(CFI):c.1638G>A (p.Trp546Ter) rs2126178088
NM_000204.5(CFI):c.192G>C (p.Pro64=) rs571265769
NM_000204.5(CFI):c.280C>T (p.Leu94Phe) rs1027910523
NM_000204.5(CFI):c.329-14dup rs754551276
NM_000204.5(CFI):c.601A>G (p.Arg201Gly) rs887070139
NM_000204.5(CFI):c.763_772+9delinsGTATCCAC rs2126214430
NM_000361.3(THBD):c.1030C>G (p.Gln344Glu) rs376845574
NM_000361.3(THBD):c.180G>A (p.Met60Ile) rs2122673111
NM_000361.3(THBD):c.241G>A (p.Val81Ile) rs772288987
NM_000361.3(THBD):c.898C>T (p.Pro300Ser) rs199987510
NM_000562.3(C8A):c.107C>A (p.Ala36Glu) rs116201358
NM_000587.4(C7):c.1924_1925del (p.His643fs) rs764871530
NM_000587.4(C7):c.633_643del (p.Ser212fs) rs770367814
NM_001735.3(C5):c.1287G>A (p.Thr429=) rs145139701
NM_001735.3(C5):c.1506+17G>T rs182918168
NM_001735.3(C5):c.1759A>T (p.Thr587Ser) rs2047317447
NM_001735.3(C5):c.2563-15_2563-14delinsAT rs2131724100
NM_001735.3(C5):c.2627A>G (p.Gln876Arg) rs2047128695
NM_001735.3(C5):c.2827A>G (p.Thr943Ala) rs2047115852
NM_001735.3(C5):c.3231-4A>C rs777774046
NM_001735.3(C5):c.3676C>T (p.Arg1226Cys) rs537101618
NM_001735.3(C5):c.4143C>A (p.Ile1381=) rs150804933
NM_001735.3(C5):c.4652C>T (p.Thr1551Ile) rs138510251
NM_001735.3(C5):c.4932G>C (p.Trp1644Cys) rs2131656978
NM_001735.3(C5):c.584+18T>C rs773328492
NM_001735.3(C5):c.813A>G (p.Ile271Met) rs2131788839
NM_001735.3(C5):c.892C>G (p.Gln298Glu) rs149346283
NM_001737.5(C9):c.1038_1042delinsT (p.Ser347fs) rs1753477155
NM_001737.5(C9):c.1184_1185del (p.Ser395fs) rs752437276
NM_001737.5(C9):c.162C>A (p.Cys54Ter) rs34000044
NM_001737.5(C9):c.1677del (p.Lys559fs) rs762159491
NM_003665.4(FCN3):c.349del (p.Leu117fs) rs532781899
NM_021023.6(CFHR3):c.839_840del (p.Ile280fs) rs781400776
NM_021023.6(CFHR3):c.934A>T (p.Ile312Phe) rs73073594
NM_172351.3(CD46):c.286+27del rs371729129
NM_172351.3(CD46):c.476-6_476-5delinsG rs1656165500
NM_172351.3(CD46):c.714_715del (p.Gln238fs) rs1571616755

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