ClinVar Miner

List of variants reported as likely benign for complement deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_001378373.1(MBL2):c.378C>G (p.Leu126=) rs930507 0.77778
NM_001378373.1(MBL2):c.*1691G>A rs10824792 0.47567
NM_001378373.1(MBL2):c.*2219A>C rs2083771 0.33140
NM_001378373.1(MBL2):c.*2388T>G rs2506 0.33130
NM_001378373.1(MBL2):c.*2048A>G rs2099902 0.33061
NM_000242.2(MBL2):c.-66C>T rs7095891 0.30009
NM_001378373.1(MBL2):c.*1275T>C rs10082466 0.29126
NM_001378373.1(MBL2):c.*1879A>C rs2120131 0.28974
NM_001378373.1(MBL2):c.*1913C>T rs2165813 0.28952
NM_001378373.1(MBL2):c.*1857A>G rs2120132 0.28951
NM_001378373.1(MBL2):c.*2040G>T rs2099903 0.28799
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153 0.11820
NM_001378373.1(MBL2):c.170G>A (p.Gly57Glu) rs1800451 0.08024
NM_000063.6(C2):c.1902+6G>C rs9332730 0.05089
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_001710.6(CFB):c.504G>A (p.Pro168=) rs4151669 0.03288
NM_006610.4(MASP2):c.1316G>A (p.Arg439His) rs12085877 0.02961
NM_000186.3(CFH):c.-79A>G rs35906110 0.02400
NM_001710.6(CFB):c.754G>A (p.Gly252Ser) rs4151651 0.02344
NM_007375.4(TARDBP):c.*2331A>G rs114897688 0.02160
NM_001710.6(CFB):c.672C>T (p.Tyr224=) rs4151670 0.02070
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867 0.01982
NM_001710.6(CFB):c.1365C>T (p.Val455=) rs2072634 0.01961
NM_000063.6(C2):c.1922T>C (p.Val641Ala) rs36221133 0.01554
NM_006610.4(MASP2):c.1617T>C (p.Asn539=) rs72550845 0.01301
NM_001710.6(CFB):c.405C>T (p.Tyr135=) rs4151650 0.01202
NM_000204.5(CFI):c.1534+5G>T rs114013791 0.00951
NM_001710.6(CFB):c.1137C>T (p.Arg379=) rs45600936 0.00911
NM_172351.3(CD46):c.417A>G (p.Leu139=) rs12126088 0.00583
NM_006610.4(MASP2):c.467G>A (p.Cys156Tyr) rs41307788 0.00558
NM_006610.4(MASP2):c.234+13C>T rs72647262 0.00557
NM_006610.4(MASP2):c.*184C>T rs115750484 0.00452
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_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_006610.4(MASP2):c.1064A>T (p.Asp355Val) rs61735596 0.00303
NM_001710.6(CFB):c.858C>T (p.Phe286=) rs117905900 0.00285
NM_172351.3(CD46):c.-11C>A rs74477032 0.00262
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_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_000064.4(C3):c.2245+15G>A rs11569434 0.00192
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_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_006610.4(MASP2):c.1731A>C (p.Gln577His) rs144471433 0.00130
NM_000361.3(THBD):c.*158G>A rs3176121 0.00118
NM_000063.6(C2):c.1414G>A (p.Ala472Thr) rs142243595 0.00105
NM_172351.3(CD46):c.1103C>T (p.Thr368Ile) rs146803767 0.00093
NM_006610.4(MASP2):c.742-12C>T rs201703577 0.00086
NM_006610.4(MASP2):c.352C>T (p.Arg118Cys) rs147270785 0.00066
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_000063.6(C2):c.1450A>G (p.Ile484Val) rs145988012 0.00031
NM_000186.4(CFH):c.3172T>C (p.Tyr1058His) rs55679475 0.00029
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_000186.4(CFH):c.1949G>T (p.Gly650Val) rs143237092 0.00021
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_000063.5(C2):c.-145A>C rs150299426 0.00017
NM_000064.4(C3):c.1623C>T (p.Ser541=) rs202078483 0.00016
NM_000064.4(C3):c.2157G>A (p.Ala719=) rs143671993 0.00016
NM_000064.4(C3):c.2184C>T (p.Cys728=) rs200258941 0.00014
NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg) rs201816520 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_000186.4(CFH):c.1548T>A (p.Asn516Lys) rs147403664 0.00010
NM_000064.4(C3):c.4535G>A (p.Arg1512His) rs142868256 0.00009
NM_000064.4(C3):c.2207G>A (p.Arg736Gln) rs578116271 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_006610.4(MASP2):c.99C>T (p.Pro33=) rs534852238 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.1164C>T (p.Pro388=) rs769368306 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_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_000204.5(CFI):c.57+4A>G rs757464411 0.00005
NM_000063.6(C2):c.1360+1G>A rs140225293 0.00004
NM_000186.4(CFH):c.2596+8G>T rs375176505 0.00004
NM_000186.4(CFH):c.907C>T (p.Arg303Trp) rs142937931 0.00004
NM_001710.6(CFB):c.604C>T (p.Arg202Trp) rs537478097 0.00004
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_000186.4(CFH):c.3156C>T (p.Pro1052=) rs764539113 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.1296G>A (p.Ser432=) rs760150621 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_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.920C>T (p.Ser307Leu) rs372556297 0.00001
NM_000064.4(C3):c.-3_-2dup rs528697923
NM_000064.4(C3):c.4645C>T (p.Leu1549=) rs149202905
NM_001710.5(CFB):c.-186delG rs796979529
NM_001710.6(CFB):c.1524C>T (p.His508=) rs138207668

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