ClinVar Miner

List of variants reported as benign 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: 230
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HGVS dbSNP gnomAD frequency
NM_000204.5(CFI):c.*112C>T rs551 0.94881
NM_001710.6(CFB):c.450A>G (p.Arg150=) rs1048709 0.85323
NM_000064.4(C3):c.2745T>C (p.Ala915=) rs423490 0.76736
NM_000064.4(C3):c.2246-8C>T rs406514 0.76696
NM_000361.3(THBD):c.*1918G>A rs1962 0.75190
NM_006610.4(MASP2):c.*225T>C rs1033638 0.69325
NM_006610.4(MASP2):c.1479C>T (p.Ser493=) rs1782455 0.67756
NM_000064.4(C3):c.2863+7C>T rs2287845 0.65549
NM_000064.4(C3):c.2421G>C (p.Val807=) rs428453 0.65502
NM_000186.4(CFH):c.1204C>T (p.His402Tyr) rs1061170 0.63625
NM_006610.4(MASP2):c.1111G>T (p.Asp371Tyr) rs12711521 0.62832
NM_000186.4(CFH):c.921A>C (p.Ala307=) rs1061147 0.61990
NM_000064.4(C3):c.4896C>T (p.Pro1632=) rs17030 0.50596
NM_000064.4(C3):c.4457-4G>A rs2277984 0.49417
NM_000186.4(CFH):c.1419G>A (p.Ala473=) rs2274700 0.43407
NM_172351.3(CD46):c.*897T>C rs7144 0.40706
NM_000186.4(CFH):c.184G>A (p.Val62Ile) rs800292 0.40446
NM_000064.4(C3):c.1692G>A (p.Val564=) rs2230204 0.36996
NM_000361.3(THBD):c.*793A>G rs1042580 0.32212
NM_000204.5(CFI):c.804G>A (p.Ser268=) rs2298749 0.30706
NM_001710.5(CFB):c.94C>T (p.Arg32Trp) rs12614 0.17324
NM_000064.4(C3):c.912G>A (p.Arg304=) rs2230201 0.15982
NM_000361.3(THBD):c.*1001A>C rs3176123 0.15095
NM_000361.3(THBD):c.1418C>T (p.Ala473Val) rs1042579 0.15009
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp) rs1065489 0.14779
NM_000186.4(CFH):c.2016A>G (p.Gln672=) rs3753396 0.14639
NM_000064.4(C3):c.1836G>A (p.Thr612=) rs2230205 0.13947
NM_000064.4(C3):c.941C>T (p.Pro314Leu) rs1047286 0.13563
NM_000063.6(C2):c.1023G>A (p.Ala341=) rs1042663 0.11857
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153 0.11820
NM_000064.4(C3):c.3391-4T>C rs11569510 0.10612
NM_000064.4(C3):c.3391-6T>C rs11569509 0.10608
NM_000064.4(C3):c.3391-8T>C rs11569508 0.10606
NM_006610.4(MASP2):c.891G>A (p.Ala297=) rs12142107 0.08579
NM_000186.4(CFH):c.*178T>A rs488738 0.08528
NM_000064.4(C3):c.4311C>T (p.Ala1437=) rs7951 0.08524
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu) rs534399 0.08522
NM_006610.4(MASP2):c.729C>T (p.Tyr243=) rs7536030 0.08173
NM_000064.4(C3):c.4631-8C>T rs11569565 0.06993
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile) rs515299 0.06393
NM_006610.4(MASP2):c.1130T>C (p.Val377Ala) rs2273346 0.05757
NM_000063.6(C2):c.1902+6G>C rs9332730 0.05089
NM_000064.4(C3):c.2715C>T (p.Thr905=) rs2230208 0.04973
NM_000064.4(C3):c.2430G>A (p.Ser810=) rs2230207 0.04934
NM_000186.3(CFH):c.-195T>C rs35836460 0.04685
NM_172351.3(CD46):c.*1875T>G rs1237 0.04298
NM_000361.3(THBD):c.*351A>G rs11696919 0.04028
NM_006610.4(MASP2):c.377C>T (p.Pro126Leu) rs56392418 0.03726
NM_000186.4(CFH):c.1160-15T>C rs34815383 0.03666
NM_001375278.1(CFI):c.1558+1812A>G rs28361433 0.03412
NM_001710.6(CFB):c.*23C>T rs4151672 0.03305
NM_001710.6(CFB):c.504G>A (p.Pro168=) rs4151669 0.03288
NM_172351.3(CD46):c.*1435T>C rs14374 0.03161
NM_000361.3(THBD):c.*87T>G rs3176133 0.02931
NM_000361.3(THBD):c.-58G>C rs13306849 0.02804
NM_006610.4(MASP2):c.555C>T (p.Ser185=) rs78775425 0.02482
NM_001710.6(CFB):c.754G>A (p.Gly252Ser) rs4151651 0.02344
NM_172351.3(CD46):c.1083-10C>T rs41317997 0.02234
NM_006610.4(MASP2):c.296G>A (p.Arg99Gln) rs61735600 0.02122
NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr) rs35343172 0.02118
NM_001710.6(CFB):c.672C>T (p.Tyr224=) rs4151670 0.02070
NM_172351.3(CD46):c.*503A>G rs2724390 0.02021
NM_001710.6(CFB):c.1365C>T (p.Val455=) rs2072634 0.01961
NM_000186.4(CFH):c.*98C>T rs35742764 0.01872
NM_006610.4(MASP2):c.882G>A (p.Thr294=) rs61735598 0.01862
NM_001710.6(CFB):c.1693A>G (p.Lys565Glu) rs4151659 0.01851
NM_000186.4(CFH):c.1652T>C (p.Ile551Thr) rs35453854 0.01591
NM_000186.4(CFH):c.477T>C (p.Ser159=) rs34940854 0.01586
NM_000186.4(CFH):c.245-7G>A rs35814900 0.01519
NM_172351.3(CD46):c.1013C>T (p.Ala338Val) rs35366573 0.01505
NM_000204.5(CFI):c.884-7T>C rs140555685 0.01504
NM_000186.4(CFH):c.1428A>G (p.Gln476=) rs34399588 0.01440
NM_000186.4(CFH):c.2236+8T>A rs7537967 0.01429
NM_000204.5(CFI):c.482+14T>A rs76014294 0.01365
NM_000064.4(C3):c.1407G>C (p.Glu469Asp) rs11569422 0.01362
NM_172351.3(CD46):c.*918G>A rs6664092 0.01233
NM_001710.6(CFB):c.405C>T (p.Tyr135=) rs4151650 0.01202
NM_000361.3(THBD):c.*2143C>T rs3176126 0.01185
NM_000064.4(C3):c.783C>T (p.Tyr261=) rs2230200 0.01155
NM_000064.4(C3):c.741C>T (p.Asn247=) rs11569571 0.01041
NM_000064.4(C3):c.4457-5C>T rs344554 0.00979
NM_000361.3(THBD):c.*1993T>C rs3176136 0.00972
NM_001710.6(CFB):c.1697A>C (p.Glu566Ala) rs45484591 0.00913
NM_001710.6(CFB):c.1137C>T (p.Arg379=) rs45600936 0.00911
NM_000204.5(CFI):c.*7G>T rs80173133 0.00861
NM_000204.5(CFI):c.*144T>C rs77449037 0.00857
NM_006610.4(MASP2):c.408C>T (p.Ala136=) rs138386377 0.00838
NM_000361.3(THBD):c.*277G>A rs3176134 0.00836
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
NM_000361.3(THBD):c.*497G>A rs3176122 0.00808
NM_006610.4(MASP2):c.33T>C (p.Cys11=) rs61735592 0.00763
NM_000186.4(CFH):c.3102T>C (p.Asn1034=) rs34594237 0.00750
NM_001710.6(CFB):c.1953T>G (p.Asp651Glu) rs4151660 0.00673
NM_000361.3(THBD):c.*321G>T rs56354707 0.00668
NM_000361.3(THBD):c.1504G>C (p.Gly502Arg) rs76135678 0.00655
NM_000064.4(C3):c.1653G>T (p.Val551=) rs344534 0.00648
NM_000204.5(CFI):c.1206C>T (p.Pro402=) rs115780371 0.00646
NM_000361.3(THBD):c.*759A>T rs73611750 0.00628
NM_000361.3(THBD):c.1092G>A (p.Glu364=) rs73901577 0.00611
NM_000204.5(CFI):c.315A>T (p.Thr105=) rs61745205 0.00608
NM_006610.4(MASP2):c.60G>A (p.Pro20=) rs61432273 0.00601
NM_000204.5(CFI):c.1217G>A (p.Arg406His) rs74817407 0.00599
NM_006610.4(MASP2):c.470A>G (p.His157Arg) rs144247267 0.00581
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534 0.00573
NM_006610.4(MASP2):c.881C>T (p.Thr294Met) rs139962539 0.00544
NM_001710.6(CFB):c.600C>T (p.Ser200=) rs113197809 0.00527
NM_000361.3(THBD):c.40G>A (p.Gly14Ser) rs191884040 0.00483
NM_000361.3(THBD):c.*1562G>T rs183647515 0.00453
NM_000361.3(THBD):c.*520C>G rs41282276 0.00453
NM_000186.4(CFH):c.3050C>T (p.Thr1017Ile) rs34362004 0.00426
NM_000186.4(CFH):c.-36G>C rs140356702 0.00418
NM_172351.3(CD46):c.453C>T (p.Ser151=) rs145041158 0.00408
NM_000064.4(C3):c.588G>A (p.Pro196=) rs150007726 0.00403
NM_000064.4(C3):c.1119+15G>A rs114252882 0.00399
NM_000064.4(C3):c.-28C>G rs339394 0.00341
NM_001710.6(CFB):c.1778+9G>A rs188688680 0.00301
NM_000064.4(C3):c.600-14C>T rs3745558 0.00289
NM_000361.3(THBD):c.1456G>T (p.Asp486Tyr) rs41348347 0.00281
NM_000186.4(CFH):c.428-14T>C rs184188486 0.00271
NM_172351.3(CD46):c.38C>T (p.Ser13Phe) rs138843816 0.00262
NM_000064.4(C3):c.4878T>C (p.Thr1626=) rs1803223 0.00261
NM_000361.3(THBD):c.127G>A (p.Ala43Thr) rs1800576 0.00255
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257 0.00250
NM_000361.3(THBD):c.*1171C>G rs143450327 0.00245
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg) rs41278047 0.00243
NM_000064.4(C3):c.4631-9C>T rs116302413 0.00242
NM_000361.3(THBD):c.*1770T>C rs113252822 0.00232
NM_000186.4(CFH):c.3207T>C (p.Ser1069=) rs62641697 0.00219
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln) rs7437875 0.00206
NM_000064.4(C3):c.2203C>T (p.Arg735Trp) rs117793540 0.00198
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.3216G>T (p.Arg1072=) rs137880434 0.00183
NM_001710.6(CFB):c.1143C>T (p.Arg381=) rs150920440 0.00175
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609 0.00142
NM_172351.3(CD46):c.*1498G>T rs117431447 0.00133
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_000186.4(CFH):c.1935G>T (p.Thr645=) rs56035657 0.00105
NM_006610.4(MASP2):c.464A>G (p.His155Arg) rs2273343 0.00096
NM_000064.4(C3):c.4767G>A (p.Lys1589=) rs144589541 0.00083
NM_000064.4(C3):c.1898A>G (p.Lys633Arg) rs140655115 0.00058
NM_000361.3(THBD):c.*41T>C rs377311614 0.00058
NM_000064.4(C3):c.26T>C (p.Leu9Pro) rs138214338 0.00053
NM_000361.3(THBD):c.*26C>T rs13306852 0.00053
NM_000186.4(CFH):c.245-15T>C rs200079172 0.00052
NM_001710.6(CFB):c.*47C>T rs375895797 0.00052
NM_000064.4(C3):c.1480-4C>A rs200965763 0.00050
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_000186.4(CFH):c.285T>C (p.Thr95=) rs148182625 0.00049
NM_000186.4(CFH):c.172T>G (p.Ser58Ala) rs141336681 0.00047
NM_000064.4(C3):c.1855G>A (p.Val619Met) rs146613648 0.00041
NM_000186.4(CFH):c.3133+8G>T rs142718541 0.00036
NM_000204.5(CFI):c.319A>G (p.Thr107Ala) rs201419000 0.00036
NM_000064.4(C3):c.2799G>A (p.Pro933=) rs149209011 0.00031
NM_000186.4(CFH):c.2957-7A>G rs190778135 0.00031
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu) rs55771831 0.00029
NM_000064.4(C3):c.4635C>T (p.Tyr1545=) rs189948635 0.00026
NM_000204.5(CFI):c.719C>G (p.Ala240Gly) rs146444258 0.00024
NM_000064.4(C3):c.1873A>T (p.Ile625Phe) rs144432231 0.00023
NM_000361.3(THBD):c.282C>G (p.Pro94=) rs538290084 0.00022
NM_000064.4(C3):c.774-4G>A rs368095422 0.00019
NM_000361.3(THBD):c.-151G>T rs16984852 0.00018
NM_000064.4(C3):c.4319A>C (p.Asp1440Ala) rs147116781 0.00017
NM_001710.6(CFB):c.2100C>T (p.Gly700=) rs116928087 0.00017
NM_000064.4(C3):c.1623C>T (p.Ser541=) rs202078483 0.00016
NM_000204.5(CFI):c.1581C>T (p.Gly527=) rs181378677 0.00015
NM_000204.5(CFI):c.608C>T (p.Thr203Ile) rs138346388 0.00015
NM_000064.4(C3):c.2184C>T (p.Cys728=) rs200258941 0.00014
NM_000361.3(THBD):c.347A>C (p.Asn116Thr) rs773006742 0.00014
NM_000064.4(C3):c.2861G>A (p.Arg954His) rs139864704 0.00012
NM_000361.3(THBD):c.*47C>T rs551028498 0.00012
NM_000064.4(C3):c.4148C>A (p.Thr1383Asn) rs139100972 0.00011
NM_000361.3(THBD):c.965G>T (p.Arg322Leu) rs146549103 0.00011
NM_000064.4(C3):c.4030-4C>T rs372612816 0.00010
NM_000204.5(CFI):c.405T>C (p.Asp135=) rs375792874 0.00010
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.835G>A (p.Glu279Lys) rs146167974 0.00009
NM_000064.4(C3):c.928G>A (p.Gly310Arg) rs139527231 0.00009
NM_000204.5(CFI):c.1410T>C (p.Ser470=) rs200068862 0.00009
NM_000186.4(CFH):c.350+9T>C rs201686629 0.00007
NM_000204.5(CFI):c.560G>A (p.Arg187Gln) rs143366614 0.00007
NM_000064.4(C3):c.763A>G (p.Ile255Val) rs746486431 0.00006
NM_000186.4(CFH):c.1418C>T (p.Ala473Val) rs371053403 0.00006
NM_000186.4(CFH):c.2196G>A (p.Thr732=) rs144325643 0.00006
NM_000361.3(THBD):c.*2129C>A rs372816835 0.00006
NM_000064.4(C3):c.1119+14C>T rs374368486 0.00005
NM_000204.5(CFI):c.1044+8C>T rs190420174 0.00005
NM_001710.6(CFB):c.1548G>A (p.Val516=) rs553118090 0.00005
NM_000064.4(C3):c.1508C>T (p.Ala503Val) rs781417846 0.00004
NM_000186.4(CFH):c.1736T>C (p.Val579Ala) rs201411537 0.00004
NM_000204.5(CFI):c.603A>C (p.Arg201Ser) rs145769028 0.00004
NM_000361.3(THBD):c.*1271G>T rs563439109 0.00004
NM_000064.4(C3):c.48C>A (p.His16Gln) rs184455094 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_000064.4(C3):c.1685C>T (p.Ser562Leu) rs200541526 0.00002
NM_000186.4(CFH):c.16A>G (p.Lys6Glu) rs749875053 0.00002
NM_000186.4(CFH):c.2424A>G (p.Ile808Met) rs752302466 0.00002
NM_000361.3(THBD):c.*1239G>A rs549574979 0.00002
NM_000361.3(THBD):c.1029A>G (p.Thr343=) rs79349426 0.00002
NM_000361.3(THBD):c.543G>A (p.Glu181=) rs542108654 0.00002
NM_000064.4(C3):c.1042A>G (p.Ile348Val) rs141737564 0.00001
NM_000064.4(C3):c.2583+9C>T rs372400121 0.00001
NM_000064.4(C3):c.3993A>G (p.Thr1331=) rs202210310 0.00001
NM_000186.4(CFH):c.2944C>T (p.Pro982Ser) rs149938052 0.00001
NM_000186.4(CFH):c.879G>A (p.Gln293=) rs769615121 0.00001
NM_001710.6(CFB):c.1956+10G>A rs545348156 0.00001
NM_000064.4(C3):c.1554C>A (p.Pro518=) rs2230203
NM_000064.4(C3):c.2048-14_2048-13del rs140718871
NM_000064.4(C3):c.3753C>A (p.Pro1251=) rs2230209
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) rs149202905
NM_000186.3(CFH):c.-124G>T rs527444515
NM_000186.4(CFH):c.2956+13G>A rs572034879
NM_000186.4(CFH):c.3138C>T (p.Thr1046=) rs61822181
NM_000186.4(CFH):c.3427C>G (p.Gln1143Glu) rs15809
NM_000204.5(CFI):c.-13G>A rs113612355
NM_000204.5(CFI):c.482+6C>A rs79375065
NM_000204.5(CFI):c.482+6C>T rs79375065
NM_000361.3(THBD):c.*511T>G rs182592762
NM_000361.3(THBD):c.15G>T (p.Leu5=) rs376209282
NM_000361.3(THBD):c.898C>A (p.Pro300Thr) rs199987510
NM_001710.6(CFB):c.1037-10C>G rs201659953
NM_001710.6(CFB):c.1037-10C>T rs201659953
NM_001710.6(CFB):c.1524C>T (p.His508=) rs138207668
NM_006610.4(MASP2):c.612G>A (p.Pro204=) rs72550853
NM_007375.4(TARDBP):c.*2294_*2295insGTTTT rs3059695

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