ClinVar Miner

List of variants studied for atypical hemolytic-uremic syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 279
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HGVS dbSNP gnomAD frequency
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_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
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_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_000064.4(C3):c.1976-19C>T rs11569433 0.00656
NM_000204.5(CFI):c.1206C>T (p.Pro402=) rs115780371 0.00646
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_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_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_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_000204.5(CFI):c.782G>A (p.Gly261Asp) rs112534524 0.00153
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609 0.00142
NM_021023.6(CFHR3):c.805A>G (p.Ile269Val) rs139520520 0.00112
NM_000186.4(CFH):c.1935G>T (p.Thr645=) rs56035657 0.00105
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_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_000186.4(CFH):c.1825G>A (p.Val609Ile) rs148165372 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_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_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_000064.4(C3):c.4791G>A (p.Glu1597=) rs149675330 0.00021
NM_000361.3(THBD):c.866A>T (p.Asn289Ile) rs143748797 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_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_001710.6(CFB):c.2100C>T (p.Gly700=) rs116928087 0.00017
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_000204.5(CFI):c.338G>A (p.Ser113Asn) rs150610189 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_000186.4(CFH):c.2488C>T (p.Arg830Trp) rs62641696 0.00011
NM_000186.4(CFH):c.476G>A (p.Ser159Asn) rs370640334 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_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_000204.5(CFI):c.193T>C (p.Tyr65His) rs774783110 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_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_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_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_001710.6(CFB):c.1374G>A (p.Met458Ile) rs200837114 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_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_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_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_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_172351.3(CD46):c.118A>G (p.Thr40Ala) rs753924720 0.00001
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_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_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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