ClinVar Miner

List of variants reported as uncertain significance for complement deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 397
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HGVS dbSNP gnomAD frequency
NM_001378373.1(MBL2):c.*1135A>G rs11595876 0.04693
NM_001378373.1(MBL2):c.*1711T>G rs12254557 0.04213
NM_001378373.1(MBL2):c.408C>T (p.Asn136=) rs35805975 0.02062
NM_001378373.1(MBL2):c.*865A>C rs55714260 0.01839
NM_001378373.1(MBL2):c.*1134C>T rs11003121 0.00880
NM_001378373.1(MBL2):c.*2702G>A rs114932753 0.00736
NM_006610.4(MASP2):c.1243G>A (p.Asp415Asn) rs61735593 0.00658
NM_006610.4(MASP2):c.*189G>A rs116311214 0.00581
NM_001378373.1(MBL2):c.*1694G>T rs35327474 0.00547
NM_001378373.1(MBL2):c.*1136A>G rs115639140 0.00540
NM_000063.6(C2):c.2200C>T (p.Arg734Cys) rs4151648 0.00474
NM_001378373.1(MBL2):c.*2450A>T rs56325023 0.00387
NM_000063.6(C2):c.443-4G>A rs9332719 0.00380
NM_001378373.1(MBL2):c.*2727G>T rs138449358 0.00372
NM_000361.3(THBD):c.*1469C>T rs3176124 0.00363
NM_001378373.1(MBL2):c.*2207G>A rs191761980 0.00290
NM_001378373.1(MBL2):c.*447G>C rs374583038 0.00228
NM_001378373.1(MBL2):c.*1498C>T rs56009657 0.00213
NM_000064.4(C3):c.2203C>T (p.Arg735Trp) rs117793540 0.00198
NM_172351.3(CD46):c.285T>C (p.Tyr95=) rs112089594 0.00175
NM_001378373.1(MBL2):c.*1819T>C rs774307463 0.00171
NM_001378373.1(MBL2):c.628G>T (p.Glu210Ter) rs74754826 0.00140
NM_000064.4(C3):c.2067G>A (p.Glu689=) rs147477257 0.00118
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210 0.00118
NM_000063.6(C2):c.1414G>A (p.Ala472Thr) rs142243595 0.00105
NM_001378373.1(MBL2):c.132C>T (p.Asn44=) rs34120190 0.00087
NM_000064.4(C3):c.4767G>A (p.Lys1589=) rs144589541 0.00083
NM_006610.4(MASP2):c.828C>G (p.Ile276Met) rs149800848 0.00080
NM_006610.4(MASP2):c.1142C>T (p.Thr381Ile) rs143981111 0.00063
NM_001378373.1(MBL2):c.*1995del rs751460283 0.00061
NM_006610.4(MASP2):c.383C>T (p.Thr128Met) rs141145402 0.00061
NM_006610.4(MASP2):c.395C>T (p.Ala132Val) rs144632025 0.00061
NM_000064.4(C3):c.1898A>G (p.Lys633Arg) rs140655115 0.00058
NM_006610.4(MASP2):c.231C>T (p.Val77=) rs140239262 0.00058
NM_001378373.1(MBL2):c.*2209T>C rs747317698 0.00055
NM_006610.4(MASP2):c.*219C>T rs775881603 0.00055
NM_000064.4(C3):c.26T>C (p.Leu9Pro) rs138214338 0.00053
NM_000064.4(C3):c.1480-4C>A rs200965763 0.00050
NM_172351.3(CD46):c.*1111C>G rs193023975 0.00049
NM_000063.6(C2):c.1413C>T (p.Asn471=) rs138221333 0.00041
NM_000064.4(C3):c.1855G>A (p.Val619Met) rs146613648 0.00041
NM_000064.4(C3):c.-44C>T rs773043245 0.00039
NM_001378373.1(MBL2):c.*675C>T rs56213573 0.00038
NM_000186.3(CFH):c.-175T>C rs762143457 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_000063.6(C2):c.1450A>G (p.Ile484Val) rs145988012 0.00031
NM_000063.6(C2):c.929A>G (p.Asn310Ser) rs144201432 0.00031
NM_000064.4(C3):c.2799G>A (p.Pro933=) rs149209011 0.00031
NM_006610.4(MASP2):c.1314C>T (p.Ala438=) rs199953319 0.00031
NM_000063.6(C2):c.73C>T (p.Pro25Ser) rs200095096 0.00029
NM_000063.6(C2):c.749C>G (p.Ser250Cys) rs150827255 0.00027
NM_000204.4(CFI):c.-171G>A rs182477786 0.00026
NM_001378373.1(MBL2):c.-9-5C>G rs184683428 0.00026
NM_001378373.1(MBL2):c.483T>C (p.Ser161=) rs760332285 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_006610.4(MASP2):c.1213G>A (p.Val405Met) rs61735594 0.00025
NM_000064.4(C3):c.1873A>T (p.Ile625Phe) rs144432231 0.00023
NM_000186.4(CFH):c.3291G>A (p.Thr1097=) rs409953 0.00023
NM_000361.3(THBD):c.*1011C>A rs534762196 0.00023
NM_000063.6(C2):c.2080-8T>C rs201806170 0.00022
NM_001378373.1(MBL2):c.*1088C>T rs56095345 0.00022
NM_000361.3(THBD):c.*338C>T rs536637715 0.00021
NM_000063.6(C2):c.218C>T (p.Pro73Leu) rs137902889 0.00020
NM_000064.4(C3):c.774-4G>A rs368095422 0.00019
NM_006610.4(MASP2):c.234+6G>A rs183487544 0.00019
NM_000063.6(C2):c.1130-11C>T rs117576077 0.00017
NM_000063.6(C2):c.936C>G (p.Asn312Lys) rs532091149 0.00017
NM_000064.4(C3):c.4319A>C (p.Asp1440Ala) rs147116781 0.00017
NM_000063.6(C2):c.*82C>T rs747202032 0.00016
NM_000063.6(C2):c.1716G>C (p.Lys572Asn) rs376278843 0.00016
NM_000064.4(C3):c.2157G>A (p.Ala719=) rs143671993 0.00016
NM_006610.4(MASP2):c.1187G>A (p.Cys396Tyr) rs185903926 0.00016
NM_006610.4(MASP2):c.1727C>T (p.Thr576Ile) rs202214079 0.00016
NM_000063.6(C2):c.1169A>C (p.Asp390Ala) rs142088624 0.00014
NM_000063.6(C2):c.1613C>T (p.Ala538Val) rs140194348 0.00014
NM_000204.5(CFI):c.905-3T>C rs377535161 0.00014
NM_006610.4(MASP2):c.*171A>C rs183998926 0.00014
NM_000063.6(C2):c.1902+5G>A rs201711512 0.00013
NM_172351.3(CD46):c.*1641A>G rs886045843 0.00013
NM_172351.3(CD46):c.*517T>A rs539666226 0.00013
NM_000064.4(C3):c.2861G>A (p.Arg954His) rs139864704 0.00012
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.4148C>A (p.Thr1383Asn) rs139100972 0.00011
NM_000064.4(C3):c.4030-4C>T rs372612816 0.00010
NM_000361.3(THBD):c.1700G>A (p.Arg567Gln) rs368774068 0.00010
NM_001378373.1(MBL2):c.490A>C (p.Thr164Pro) rs200749792 0.00010
NM_000063.6(C2):c.2253C>T (p.Pro751=) rs771797450 0.00009
NM_000064.4(C3):c.2797-5C>T rs369673832 0.00009
NM_000064.4(C3):c.3687C>T (p.Asn1229=) rs201108539 0.00009
NM_000064.4(C3):c.4535G>A (p.Arg1512His) rs142868256 0.00009
NM_000064.4(C3):c.835G>A (p.Glu279Lys) rs146167974 0.00009
NM_000064.4(C3):c.928G>A (p.Gly310Arg) rs139527231 0.00009
NM_000204.5(CFI):c.454G>A (p.Val152Met) rs367677199 0.00009
NM_001378373.1(MBL2):c.*99T>G rs553395892 0.00009
NM_006610.4(MASP2):c.100G>A (p.Gly34Ser) rs373677176 0.00009
NM_172351.3(CD46):c.*1614G>A rs533116649 0.00009
NM_001378373.1(MBL2):c.*3G>T rs371397104 0.00008
NM_172351.3(CD46):c.887C>T (p.Ala296Val) rs753859532 0.00008
NM_000063.6(C2):c.1109C>T (p.Ala370Val) rs777200072 0.00007
NM_000063.6(C2):c.980A>G (p.Asn327Ser) rs766665783 0.00007
NM_000064.4(C3):c.1758G>A (p.Glu586=) rs764201055 0.00007
NM_000064.4(C3):c.2207G>A (p.Arg736Gln) rs578116271 0.00007
NM_000204.5(CFI):c.60C>T (p.Val20=) rs776132010 0.00007
NM_001378373.1(MBL2):c.*2067C>T rs542103508 0.00007
NM_001378373.1(MBL2):c.302C>T (p.Pro101Leu) rs143562102 0.00007
NM_001378373.1(MBL2):c.303G>A (p.Pro101=) rs55902142 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_000063.6(C2):c.442+15T>G rs776839411 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.1164C>T (p.Pro388=) rs769368306 0.00006
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_000064.4(C3):c.763A>G (p.Ile255Val) rs746486431 0.00006
NM_000204.5(CFI):c.148C>G (p.Pro50Ala) rs144082872 0.00006
NM_001378373.1(MBL2):c.*1287C>T rs551861672 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_000063.6(C2):c.*141C>T rs1026987640 0.00005
NM_000063.6(C2):c.-36G>A rs758966628 0.00005
NM_000063.6(C2):c.386G>A (p.Arg129His) rs367996721 0.00005
NM_000064.4(C3):c.1119+14C>T rs374368486 0.00005
NM_000064.4(C3):c.1470C>T (p.Tyr490=) rs762635358 0.00005
NM_000064.4(C3):c.1819A>G (p.Lys607Glu) rs140637006 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_006610.4(MASP2):c.86G>A (p.Arg29His) rs375887709 0.00005
NM_172351.3(CD46):c.*1665G>A rs886045845 0.00005
NM_000063.6(C2):c.1981G>A (p.Asp661Asn) rs374481091 0.00004
NM_000063.6(C2):c.245C>T (p.Ala82Val) rs547881286 0.00004
NM_000064.4(C3):c.1508C>T (p.Ala503Val) rs781417846 0.00004
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_001378373.1(MBL2):c.*1452A>T rs186828712 0.00004
NM_001710.6(CFB):c.274A>T (p.Thr92Ser) rs369638886 0.00004
NM_006610.4(MASP2):c.1470T>G (p.His490Gln) rs750359413 0.00004
NM_006610.4(MASP2):c.412+1G>A rs781037969 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_000063.6(C2):c.*286T>C rs948285998 0.00003
NM_000064.4(C3):c.48C>A (p.His16Gln) rs184455094 0.00003
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_001378373.1(MBL2):c.*1569A>G rs754268753 0.00003
NM_001378373.1(MBL2):c.*2457G>C rs1263739066 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_006610.4(MASP2):c.*212A>G rs987591296 0.00003
NM_006610.4(MASP2):c.*311T>C rs771262318 0.00003
NM_006610.4(MASP2):c.159C>T (p.Pro53=) rs376802078 0.00003
NM_006610.4(MASP2):c.172C>T (p.Arg58Cys) rs566630945 0.00003
NM_006610.4(MASP2):c.229G>A (p.Val77Ile) rs376609308 0.00003
NM_007375.4(TARDBP):c.*2123T>C rs1464055996 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.1685C>T (p.Ser562Leu) rs200541526 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_001378373.1(MBL2):c.*1144A>G rs886047046 0.00002
NM_001378373.1(MBL2):c.*7A>G rs777309633 0.00002
NM_001378373.1(MBL2):c.527A>G (p.Asn176Ser) rs8191996 0.00002
NM_001710.6(CFB):c.1290C>T (p.Val430=) rs201619743 0.00002
NM_006610.4(MASP2):c.446C>T (p.Ala149Val) rs761179644 0.00002
NM_006610.4(MASP2):c.661T>C (p.Phe221Leu) rs756947952 0.00002
NM_006610.4(MASP2):c.81C>T (p.Phe27=) rs886045056 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_000063.6(C2):c.1082C>T (p.Thr361Met) rs61730574 0.00001
NM_000063.6(C2):c.283T>G (p.Phe95Val) rs201023669 0.00001
NM_000063.6(C2):c.819C>T (p.Phe273=) rs886360667 0.00001
NM_000064.4(C3):c.1042A>G (p.Ile348Val) rs141737564 0.00001
NM_000064.4(C3):c.1296G>A (p.Ser432=) rs760150621 0.00001
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.2583+9C>T rs372400121 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.3993A>G (p.Thr1331=) rs202210310 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_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.*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_001378373.1(MBL2):c.*1213C>T rs1840313554 0.00001
NM_001378373.1(MBL2):c.*1448C>T rs1403377181 0.00001
NM_001378373.1(MBL2):c.*1839A>G rs1203114895 0.00001
NM_001378373.1(MBL2):c.*289C>T rs886047050 0.00001
NM_001378373.1(MBL2):c.*674A>G rs886047049 0.00001
NM_001378373.1(MBL2):c.*708G>A rs558872633 0.00001
NM_001378373.1(MBL2):c.109G>T (p.Ala37Ser) rs201511397 0.00001
NM_001378373.1(MBL2):c.133G>A (p.Gly45Ser) rs1342494768 0.00001
NM_001378373.1(MBL2):c.166A>G (p.Lys56Glu) rs886047052 0.00001
NM_001378373.1(MBL2):c.249G>T (p.Gly83=) rs757152192 0.00001
NM_001378373.1(MBL2):c.26T>C (p.Leu9Pro) rs1049360705 0.00001
NM_001378373.1(MBL2):c.656A>T (p.Asp219Val) rs780449116 0.00001
NM_001378373.1(MBL2):c.733G>A (p.Glu245Lys) rs776003487 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_006610.4(MASP2):c.1080G>A (p.Ala360=) rs774776055 0.00001
NM_006610.4(MASP2):c.154C>T (p.Pro52Ser) rs570974459 0.00001
NM_006610.4(MASP2):c.1972A>G (p.Met658Val) rs1643743988 0.00001
NM_006610.4(MASP2):c.384G>A (p.Thr128=) rs187107024 0.00001
NM_006610.4(MASP2):c.420C>T (p.Asp140=) rs760062530 0.00001
NM_006610.4(MASP2):c.507A>G (p.Ala169=) rs201972294 0.00001
NM_006610.4(MASP2):c.626C>T (p.Ser209Phe) rs748760302 0.00001
NM_006610.4(MASP2):c.967A>C (p.Ser323Arg) rs771074354 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_000063.5(C2):c.-37C>A rs776263411
NM_000063.6(C2):c.*120T>C rs886061294
NM_000063.6(C2):c.*183C>T rs567255004
NM_000063.6(C2):c.-21G>A rs764589447
NM_000063.6(C2):c.1066C>T (p.Leu356Phe) rs886061293
NM_000063.6(C2):c.109C>T (p.Leu37Phe) rs1310333522
NM_000063.6(C2):c.1239G>C (p.Val413=) rs751253087
NM_000063.6(C2):c.149C>T (p.Ser50Phe) rs1277611780
NM_000063.6(C2):c.1602T>C (p.Leu534=) rs767886405
NM_000063.6(C2):c.2201G>T (p.Arg734Leu) rs146067615
NM_000063.6(C2):c.313G>A (p.Gly105Arg) rs886061292
NM_000063.6(C2):c.337G>A (p.Val113Met) rs1769482101
NM_000063.6(C2):c.81C>T (p.Asn27=) rs201336507
NM_000063.6(C2):c.913C>T (p.Leu305Phe) rs1562601398
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.4645C>T (p.Leu1549=) rs149202905
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_001378373.1(MBL2):c.*1252A>C rs1840312785
NM_001378373.1(MBL2):c.*1429A>C rs577771508
NM_001378373.1(MBL2):c.*1568C>T rs886047045
NM_001378373.1(MBL2):c.*1695G>T rs35768126
NM_001378373.1(MBL2):c.*1743T>C rs529374068
NM_001378373.1(MBL2):c.*2032C>T rs977172176
NM_001378373.1(MBL2):c.*2033G>A rs544901610
NM_001378373.1(MBL2):c.*2066G>T rs886047044
NM_001378373.1(MBL2):c.*2129T>C rs1382426241
NM_001378373.1(MBL2):c.*2470A>C rs886047043
NM_001378373.1(MBL2):c.*2477C>T rs55855374
NM_001378373.1(MBL2):c.*2648C>A rs183826308
NM_001378373.1(MBL2):c.*2751A>C rs758996436
NM_001378373.1(MBL2):c.*282A>G rs886047051
NM_001378373.1(MBL2):c.*324C>T rs551192639
NM_001378373.1(MBL2):c.*366G>A rs1840327961
NM_001378373.1(MBL2):c.*783C>T rs567802378
NM_001378373.1(MBL2):c.*937A>G rs886047048
NM_001378373.1(MBL2):c.*953T>C rs886047047
NM_001378373.1(MBL2):c.*966A>G rs1336069649
NM_001378373.1(MBL2):c.163A>G (p.Thr55Ala) rs886047053
NM_001378373.1(MBL2):c.187+9T>C rs1840389903
NM_001378373.1(MBL2):c.549C>T (p.Phe183=) rs1840337967
NM_001378373.1(MBL2):c.580C>A (p.Gln194Lys) rs756763361
NM_001378373.1(MBL2):c.99T>G (p.Pro33=) rs1840392728
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_006610.4(MASP2):c.*111C>T rs886045052
NM_006610.4(MASP2):c.*220A>G rs1643737115
NM_006610.4(MASP2):c.*282C>A rs375230404
NM_006610.4(MASP2):c.*64C>T rs1011130298
NM_006610.4(MASP2):c.1191A>C (p.Glu397Asp) rs1643830509
NM_006610.4(MASP2):c.1231G>A (p.Val411Met) rs367583731
NM_006610.4(MASP2):c.1468C>T (p.His490Tyr) rs1643757459
NM_006610.4(MASP2):c.1590C>T (p.Asp530=) rs886045053
NM_006610.4(MASP2):c.1886G>C (p.Cys629Ser) rs1236065829
NM_006610.4(MASP2):c.223G>A (p.Asp75Asn) rs759383807
NM_006610.4(MASP2):c.242C>A (p.Ser81Ter) rs148831269
NM_006610.4(MASP2):c.277G>C (p.Glu93Gln) rs747767865
NM_006610.4(MASP2):c.437C>T (p.Pro146Leu) rs1411989082
NM_006610.4(MASP2):c.612G>T (p.Pro204=) rs72550853
NM_006610.4(MASP2):c.808A>C (p.Lys270Gln) rs886045054
NM_006610.4(MASP2):c.93A>T (p.Ala31=) rs886045055
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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