ClinVar Miner

List of variants in gene CFH reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 419
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HGVS dbSNP gnomAD frequency
NM_000186.4(CFH):c.1204C>T (p.His402Tyr) rs1061170 0.64500
NM_000186.4(CFH):c.2850G>T (p.Gln950His) rs149474608 0.00425
NM_000186.4(CFH):c.2651C>A (p.Ser884Tyr) rs114743644 0.00114
NM_000186.4(CFH):c.172T>G (p.Ser58Ala) rs141336681 0.00047
NM_000186.4(CFH):c.1825G>A (p.Val609Ile) rs148165372 0.00042
NM_000186.4(CFH):c.2077G>A (p.Asp693Asn) rs148403790 0.00042
NM_000186.4(CFH):c.1111C>A (p.His371Asn) rs145650378 0.00036
NM_000186.4(CFH):c.2171C>A (p.Thr724Lys) rs142902005 0.00030
NM_000186.4(CFH):c.3079G>C (p.Ala1027Pro) rs373385518 0.00026
NM_000186.4(CFH):c.3133+4C>G rs374729595 0.00025
NM_000186.4(CFH):c.3226C>G (p.Gln1076Glu) rs62625015 0.00024
NM_000186.4(CFH):c.1949G>T (p.Gly650Val) rs143237092 0.00021
NM_000186.4(CFH):c.1198C>A (p.Gln400Lys) rs201671665 0.00018
NM_000186.4(CFH):c.2675C>T (p.Ala892Val) rs151068461 0.00017
NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg) rs201816520 0.00014
NM_000186.4(CFH):c.2295A>T (p.Leu765Phe) rs551215138 0.00013
NM_000186.4(CFH):c.3607C>T (p.Arg1203Trp) rs145347741 0.00013
NM_000186.4(CFH):c.388G>A (p.Asp130Asn) rs147002633 0.00013
NM_000186.4(CFH):c.2488C>T (p.Arg830Trp) rs62641696 0.00011
NM_000186.4(CFH):c.1548T>A (p.Asn516Lys) rs147403664 0.00010
NM_000186.4(CFH):c.2461C>T (p.His821Tyr) rs367687415 0.00010
NM_000186.4(CFH):c.476G>A (p.Ser159Asn) rs370640334 0.00010
NM_000186.4(CFH):c.1922T>C (p.Val641Ala) rs371768180 0.00007
NM_000186.4(CFH):c.1148T>C (p.Val383Ala) rs762389370 0.00006
NM_000186.4(CFH):c.1418C>T (p.Ala473Val) rs371053403 0.00006
NM_000186.4(CFH):c.2195C>T (p.Thr732Met) rs201360629 0.00006
NM_000186.4(CFH):c.2767C>T (p.Pro923Ser) rs368846503 0.00006
NM_000186.4(CFH):c.3377C>T (p.Ser1126Leu) rs763156179 0.00006
NM_000186.4(CFH):c.907C>T (p.Arg303Trp) rs142937931 0.00006
NM_000186.4(CFH):c.1736T>C (p.Val579Ala) rs201411537 0.00005
NM_000186.4(CFH):c.2089C>T (p.Leu697Phe) rs201961184 0.00005
NM_000186.4(CFH):c.3160G>A (p.Val1054Ile) rs757426928 0.00005
NM_000186.4(CFH):c.530T>C (p.Val177Ala) rs189411907 0.00005
NM_000186.4(CFH):c.1258T>C (p.Tyr420His) rs533690818 0.00004
NM_000186.4(CFH):c.1998G>T (p.Lys666Asn) rs752859825 0.00004
NM_000186.4(CFH):c.3118A>G (p.Arg1040Gly) rs148480839 0.00004
NM_000186.4(CFH):c.3234G>T (p.Arg1078Ser) rs121913062 0.00004
NM_000186.4(CFH):c.472G>A (p.Val158Ile) rs141852866 0.00004
NM_000186.4(CFH):c.481G>T (p.Ala161Ser) rs777300338 0.00004
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) rs121913054 0.00004
NM_000186.4(CFH):c.5G>C (p.Arg2Thr) rs142266551 0.00004
NM_000186.4(CFH):c.125A>T (p.Tyr42Phe) rs182750499 0.00003
NM_000186.4(CFH):c.1294A>G (p.Met432Val) rs775533448 0.00003
NM_000186.4(CFH):c.1708G>A (p.Glu570Lys) rs76405615 0.00003
NM_000186.4(CFH):c.1913A>G (p.Asn638Ser) rs755928805 0.00003
NM_000186.4(CFH):c.2216C>A (p.Thr739Asn) rs756847132 0.00003
NM_000186.4(CFH):c.245A>G (p.Lys82Arg) rs376337060 0.00003
NM_000186.4(CFH):c.2879T>C (p.Phe960Ser) rs115722139 0.00003
NM_000186.4(CFH):c.2896G>C (p.Asp966His) rs752629905 0.00003
NM_000186.4(CFH):c.2956+4T>C rs776001029 0.00003
NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr) rs11539862 0.00003
NM_000186.4(CFH):c.3329G>C (p.Gly1110Ala) rs201538141 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_000186.4(CFH):c.764G>A (p.Gly255Glu) rs771112278 0.00003
NM_000186.4(CFH):c.769C>T (p.Arg257Cys) rs776887716 0.00003
NM_000186.4(CFH):c.770G>A (p.Arg257His) rs140107330 0.00003
NM_000186.4(CFH):c.-19C>T rs184773114 0.00002
NM_000186.4(CFH):c.1097G>A (p.Gly366Glu) rs767431440 0.00002
NM_000186.4(CFH):c.11T>C (p.Leu4Pro) rs1305521799 0.00002
NM_000186.4(CFH):c.122C>T (p.Thr41Ile) rs1192717326 0.00002
NM_000186.4(CFH):c.1322G>C (p.Arg441Thr) rs750801523 0.00002
NM_000186.4(CFH):c.145A>G (p.Ile49Val) rs747546121 0.00002
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala) rs570523689 0.00002
NM_000186.4(CFH):c.1654G>C (p.Val552Leu) rs372365885 0.00002
NM_000186.4(CFH):c.16A>G (p.Lys6Glu) rs749875053 0.00002
NM_000186.4(CFH):c.1773G>C (p.Glu591Asp) rs762648063 0.00002
NM_000186.4(CFH):c.214G>A (p.Val72Ile) rs766241195 0.00002
NM_000186.4(CFH):c.2153A>G (p.Asn718Ser) rs140984162 0.00002
NM_000186.4(CFH):c.2278A>T (p.Ile760Leu) rs772553879 0.00002
NM_000186.4(CFH):c.2424A>G (p.Ile808Met) rs752302466 0.00002
NM_000186.4(CFH):c.2456A>G (p.Asn819Ser) rs781393769 0.00002
NM_000186.4(CFH):c.2639C>T (p.Thr880Ile) rs186711438 0.00002
NM_000186.4(CFH):c.2851T>C (p.Tyr951His) rs777049051 0.00002
NM_000186.4(CFH):c.2900G>A (p.Gly967Glu) rs375951438 0.00002
NM_000186.4(CFH):c.3113C>G (p.Thr1038Arg) rs377051240 0.00002
NM_000186.4(CFH):c.332T>A (p.Val111Glu) rs576819823 0.00002
NM_000186.4(CFH):c.3358A>T (p.Ile1120Phe) rs771435716 0.00002
NM_000186.4(CFH):c.33G>T (p.Met11Ile) rs779670935 0.00002
NM_000186.4(CFH):c.3506T>C (p.Ile1169Thr) rs1481833392 0.00002
NM_000186.4(CFH):c.430G>A (p.Val144Met) rs143609884 0.00002
NM_000186.4(CFH):c.773C>T (p.Pro258Leu) rs768526062 0.00002
NM_000186.4(CFH):c.100A>T (p.Thr34Ser) rs1389897706 0.00001
NM_000186.4(CFH):c.1010A>G (p.His337Arg) rs550898254 0.00001
NM_000186.4(CFH):c.1022G>A (p.Arg341His) rs371192606 0.00001
NM_000186.4(CFH):c.1091C>T (p.Pro364Leu) rs765531414 0.00001
NM_000186.4(CFH):c.1117C>T (p.His373Tyr) rs754477357 0.00001
NM_000186.4(CFH):c.1142C>T (p.Pro381Leu) rs1170069737 0.00001
NM_000186.4(CFH):c.1183G>A (p.Glu395Lys) rs776421776 0.00001
NM_000186.4(CFH):c.1240G>A (p.Val414Ile) rs761008984 0.00001
NM_000186.4(CFH):c.1261G>A (p.Ala421Thr) rs374159003 0.00001
NM_000186.4(CFH):c.1274C>T (p.Ala425Val) rs748387954 0.00001
NM_000186.4(CFH):c.1310C>A (p.Ser437Tyr) rs200644601 0.00001
NM_000186.4(CFH):c.1315A>G (p.Thr439Ala) rs1667977901 0.00001
NM_000186.4(CFH):c.136A>G (p.Thr46Ala) rs778461886 0.00001
NM_000186.4(CFH):c.1474A>G (p.Ile492Val) rs892717090 0.00001
NM_000186.4(CFH):c.1511C>T (p.Thr504Met) rs377008918 0.00001
NM_000186.4(CFH):c.1532T>G (p.Ile511Ser) rs1420895923 0.00001
NM_000186.4(CFH):c.1550C>T (p.Ala517Val) rs897349638 0.00001
NM_000186.4(CFH):c.1565A>G (p.Asp522Gly) rs1668852429 0.00001
NM_000186.4(CFH):c.1612G>C (p.Asp538His) rs778051521 0.00001
NM_000186.4(CFH):c.163G>A (p.Gly55Arg) rs1667337715 0.00001
NM_000186.4(CFH):c.1646G>C (p.Gly549Ala) rs981242135 0.00001
NM_000186.4(CFH):c.1688T>C (p.Ile563Thr) rs767435695 0.00001
NM_000186.4(CFH):c.1690T>C (p.Cys564Arg) rs1668856710 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.1745G>A (p.Arg582His) rs138890387 0.00001
NM_000186.4(CFH):c.1856A>G (p.Asp619Gly) rs769701959 0.00001
NM_000186.4(CFH):c.1864A>G (p.Ile622Val) rs990484984 0.00001
NM_000186.4(CFH):c.1874-3T>C rs1669139358 0.00001
NM_000186.4(CFH):c.1883A>G (p.Gln628Arg) rs1172202625 0.00001
NM_000186.4(CFH):c.1934C>T (p.Thr645Met) rs749232210 0.00001
NM_000186.4(CFH):c.2030A>G (p.Glu677Gly) rs934809554 0.00001
NM_000186.4(CFH):c.2047G>A (p.Val683Met) rs573295841 0.00001
NM_000186.4(CFH):c.2051G>T (p.Cys684Phe) rs1669146541 0.00001
NM_000186.4(CFH):c.2054T>C (p.Ile685Thr) rs1431491220 0.00001
NM_000186.4(CFH):c.205G>C (p.Gly69Arg) rs760619101 0.00001
NM_000186.4(CFH):c.2066G>A (p.Ser689Asn) rs1266913013 0.00001
NM_000186.4(CFH):c.2151C>A (p.Phe717Leu) rs763441589 0.00001
NM_000186.4(CFH):c.2161G>A (p.Glu721Lys) rs774463487 0.00001
NM_000186.4(CFH):c.2204A>G (p.His735Arg) rs1165697622 0.00001
NM_000186.4(CFH):c.2221C>T (p.Leu741Phe) rs780794196 0.00001
NM_000186.4(CFH):c.223A>C (p.Asn75His) rs1439683865 0.00001
NM_000186.4(CFH):c.2260A>G (p.Lys754Glu) rs1390504982 0.00001
NM_000186.4(CFH):c.2416G>T (p.Ala806Ser) rs753331225 0.00001
NM_000186.4(CFH):c.2468T>C (p.Met823Thr) rs1226060948 0.00001
NM_000186.4(CFH):c.2469G>A (p.Met823Ile) rs199963716 0.00001
NM_000186.4(CFH):c.2489G>A (p.Arg830Gln) rs1486048755 0.00001
NM_000186.4(CFH):c.2500A>G (p.Lys834Glu) rs147099450 0.00001
NM_000186.4(CFH):c.2513T>C (p.Leu838Pro) rs1322064437 0.00001
NM_000186.4(CFH):c.2543G>A (p.Gly848Glu) rs775133844 0.00001
NM_000186.4(CFH):c.2573G>A (p.Trp858Ter) rs1315461639 0.00001
NM_000186.4(CFH):c.2595T>G (p.Val865=) rs1311732812 0.00001
NM_000186.4(CFH):c.2650T>C (p.Ser884Pro) rs763377571 0.00001
NM_000186.4(CFH):c.2681G>A (p.Gly894Glu) rs779590934 0.00001
NM_000186.4(CFH):c.272C>G (p.Thr91Ser) rs771527214 0.00001
NM_000186.4(CFH):c.2753G>A (p.Gly918Glu) rs1408179720 0.00001
NM_000186.4(CFH):c.2783-3T>A rs1018815333 0.00001
NM_000186.4(CFH):c.2839G>C (p.Asp947His) rs777588011 0.00001
NM_000186.4(CFH):c.2908A>G (p.Ile970Val) rs759625279 0.00001
NM_000186.4(CFH):c.2936C>G (p.Ser979Cys) rs1269879293 0.00001
NM_000186.4(CFH):c.2944C>T (p.Pro982Ser) rs149938052 0.00001
NM_000186.4(CFH):c.3104G>A (p.Ser1035Asn) rs1421267465 0.00001
NM_000186.4(CFH):c.3119G>A (p.Arg1040Lys) rs370384708 0.00001
NM_000186.4(CFH):c.3130A>G (p.Arg1044Gly) rs1366929531 0.00001
NM_000186.4(CFH):c.3331C>T (p.Pro1111Ser) rs772573295 0.00001
NM_000186.4(CFH):c.3332C>T (p.Pro1111Leu) rs1422149838 0.00001
NM_000186.4(CFH):c.3357C>G (p.Asp1119Glu) rs1408795010 0.00001
NM_000186.4(CFH):c.3446G>A (p.Arg1149Gln) rs1064795727 0.00001
NM_000186.4(CFH):c.3464G>C (p.Gly1155Ala) rs1652988982 0.00001
NM_000186.4(CFH):c.3493+6T>A rs1300818488 0.00001
NM_000186.4(CFH):c.3581G>A (p.Gly1194Asp) rs761877050 0.00001
NM_000186.4(CFH):c.3659A>G (p.Asp1220Gly) rs748464244 0.00001
NM_000186.4(CFH):c.446T>C (p.Val149Ala) rs138800544 0.00001
NM_000186.4(CFH):c.44T>C (p.Ile15Thr) rs768874309 0.00001
NM_000186.4(CFH):c.484A>G (p.Met162Val) rs770510652 0.00001
NM_000186.4(CFH):c.496C>T (p.Arg166Trp) rs746222626 0.00001
NM_000186.4(CFH):c.49G>A (p.Val17Ile) rs2529283859 0.00001
NM_000186.4(CFH):c.506A>G (p.His169Arg) rs768647508 0.00001
NM_000186.4(CFH):c.524G>C (p.Arg175Pro) rs139360826 0.00001
NM_000186.4(CFH):c.529G>C (p.Val177Leu) rs539060063 0.00001
NM_000186.4(CFH):c.52G>T (p.Ala18Ser) rs779300578 0.00001
NM_000186.4(CFH):c.551T>C (p.Ile184Thr) rs765263611 0.00001
NM_000186.4(CFH):c.58+6A>C rs772573809 0.00001
NM_000186.4(CFH):c.618G>T (p.Val206=) rs749780651 0.00001
NM_000186.4(CFH):c.65A>G (p.Asn22Ser) rs767494411 0.00001
NM_000186.4(CFH):c.661A>G (p.Ile221Val) rs774239374 0.00001
NM_000186.4(CFH):c.67G>A (p.Glu23Lys) rs754932801 0.00001
NM_000186.4(CFH):c.727T>C (p.Tyr243His) rs748692496 0.00001
NM_000186.4(CFH):c.73C>T (p.Pro25Ser) rs2529329171 0.00001
NM_000186.4(CFH):c.872C>T (p.Thr291Met) rs753464350 0.00001
NM_000186.4(CFH):c.889G>A (p.Gly297Ser) rs764573258 0.00001
NC_000001.10:g.(?_196682845)_(196715149_?)dup
NC_000001.10:g.(?_196714927)_(196715149_?)dup
NM_000186.4(CFH):c.1007A>T (p.Tyr336Phe) rs2149088208
NM_000186.4(CFH):c.1057T>C (p.Tyr353His) rs1667951420
NM_000186.4(CFH):c.107C>T (p.Ser36Phe)
NM_000186.4(CFH):c.1141C>A (p.Pro381Thr) rs1057524682
NM_000186.4(CFH):c.1151C>G (p.Pro384Arg) rs747364631
NM_000186.4(CFH):c.1151C>T (p.Pro384Leu) rs747364631
NM_000186.4(CFH):c.1160-2_1180dup rs752873436
NM_000186.4(CFH):c.1162A>G (p.Lys388Glu) rs2149088636
NM_000186.4(CFH):c.1164A>C (p.Lys388Asn) rs2529388406
NM_000186.4(CFH):c.1166G>A (p.Cys389Tyr)
NM_000186.4(CFH):c.116A>G (p.Asp39Gly) rs2529329363
NM_000186.4(CFH):c.1187A>G (p.Asn396Ser) rs1443670709
NM_000186.4(CFH):c.1214A>G (p.Lys405Arg) rs1289523723
NM_000186.4(CFH):c.1214A>T (p.Lys405Met) rs1289523723
NM_000186.4(CFH):c.1216T>C (p.Phe406Leu) rs2529388675
NM_000186.4(CFH):c.1219G>A (p.Val407Ile)
NM_000186.4(CFH):c.1224G>C (p.Gln408His) rs756842126
NM_000186.4(CFH):c.1225G>A (p.Gly409Ser) rs781412871
NM_000186.4(CFH):c.1226G>T (p.Gly409Val)
NM_000186.4(CFH):c.1231T>A (p.Ser411Thr)
NM_000186.4(CFH):c.1252C>T (p.Pro418Ser) rs369496377
NM_000186.4(CFH):c.1262C>G (p.Ala421Gly) rs1558162102
NM_000186.4(CFH):c.1276C>A (p.Gln426Lys) rs1667976038
NM_000186.4(CFH):c.1286T>C (p.Val429Ala) rs2529388959
NM_000186.4(CFH):c.1288A>C (p.Thr430Pro)
NM_000186.4(CFH):c.1304G>A (p.Gly435Asp) rs2149088783
NM_000186.4(CFH):c.1310C>T (p.Ser437Phe)
NM_000186.4(CFH):c.1312_1314del (p.Pro438del) rs1558162151
NM_000186.4(CFH):c.1325G>A (p.Cys442Tyr) rs2529389189
NM_000186.4(CFH):c.133G>A (p.Gly45Ser) rs2529329434
NM_000186.4(CFH):c.1355G>A (p.Ser452Asn) rs1558172767
NM_000186.4(CFH):c.1355G>C (p.Ser452Thr)
NM_000186.4(CFH):c.1357A>G (p.Ile453Val) rs1450633243
NM_000186.4(CFH):c.1388C>T (p.Ser463Phe) rs2529467041
NM_000186.4(CFH):c.1397C>T (p.Thr466Ile) rs1476126618
NM_000186.4(CFH):c.1405T>G (p.Leu469Val)
NM_000186.4(CFH):c.1409A>G (p.Lys470Arg) rs2149102117
NM_000186.4(CFH):c.1412A>G (p.Glu471Gly) rs1299739801
NM_000186.4(CFH):c.1418C>G (p.Ala473Gly) rs371053403
NM_000186.4(CFH):c.1427A>T (p.Gln476Leu)
NM_000186.4(CFH):c.143C>T (p.Ala48Val) rs1160820929
NM_000186.4(CFH):c.1444G>T (p.Val482Leu) rs758155649
NM_000186.4(CFH):c.1451C>A (p.Ala484Glu) rs1668781638
NM_000186.4(CFH):c.146T>C (p.Ile49Thr) rs2529329503
NM_000186.4(CFH):c.14C>T (p.Ala5Val) rs2529283730
NM_000186.4(CFH):c.1501G>C (p.Ala501Pro) rs2529467421
NM_000186.4(CFH):c.1511C>G (p.Thr504Arg) rs377008918
NM_000186.4(CFH):c.1528G>T (p.Asp510Tyr) rs1423350922
NM_000186.4(CFH):c.1533C>T (p.Ile511=) rs2529474405
NM_000186.4(CFH):c.1556C>T (p.Thr519Ile)
NM_000186.4(CFH):c.1575G>T (p.Trp525Cys) rs2529474597
NM_000186.4(CFH):c.1599C>G (p.Asp533Glu) rs200484932
NM_000186.4(CFH):c.1619A>G (p.Tyr540Cys) rs2149103730
NM_000186.4(CFH):c.1622A>G (p.Glu541Gly) rs2149103733
NM_000186.4(CFH):c.1630A>G (p.Thr544Ala)
NM_000186.4(CFH):c.1631C>T (p.Thr544Ile)
NM_000186.4(CFH):c.1655T>C (p.Val552Ala) rs1471665793
NM_000186.4(CFH):c.1666A>C (p.Asn556His) rs2149103764
NM_000186.4(CFH):c.1695T>C (p.Tyr565=)
NM_000186.4(CFH):c.1699A>G (p.Arg567Gly) rs757756991
NM_000186.4(CFH):c.1705T>C (p.Cys569Arg) rs2529498884
NM_000186.4(CFH):c.1706G>A (p.Cys569Tyr)
NM_000186.4(CFH):c.176T>C (p.Leu59Pro) rs1667338164
NM_000186.4(CFH):c.1777T>A (p.Leu593Met) rs1344334277
NM_000186.4(CFH):c.1795C>A (p.Pro599Thr) rs781365948
NM_000186.4(CFH):c.1795C>T (p.Pro599Ser) rs781365948
NM_000186.4(CFH):c.1801T>C (p.Phe601Leu) rs2529499271
NM_000186.4(CFH):c.1817C>T (p.Pro606Leu) rs2529499329
NM_000186.4(CFH):c.1826T>C (p.Val609Ala) rs1669108889
NM_000186.4(CFH):c.1882C>A (p.Gln628Lys) rs766800847
NM_000186.4(CFH):c.1897C>T (p.Pro633Ser) rs765420546
NM_000186.4(CFH):c.1905A>T (p.Glu635Asp) rs758692733
NM_000186.4(CFH):c.1909C>T (p.Leu637Phe)
NM_000186.4(CFH):c.1941A>C (p.Glu647Asp) rs1669142041
NM_000186.4(CFH):c.195A>T (p.Val65=) rs771886580
NM_000186.4(CFH):c.1968A>C (p.Glu656Asp) rs915896170
NM_000186.4(CFH):c.1995G>A (p.Met665Ile)
NM_000186.4(CFH):c.1997A>T (p.Lys666Met)
NM_000186.4(CFH):c.2021_2029del (p.Val674_Gly676del) rs2529503868
NM_000186.4(CFH):c.2026G>A (p.Gly676Arg) rs1669145355
NM_000186.4(CFH):c.2027G>A (p.Gly676Glu) rs1558178947
NM_000186.4(CFH):c.2036C>G (p.Thr679Arg) rs1054618656
NM_000186.4(CFH):c.2039C>T (p.Thr680Ile)
NM_000186.4(CFH):c.2056+3A>G
NM_000186.4(CFH):c.2056+4A>G rs2529503991
NM_000186.4(CFH):c.2057T>C (p.Val686Ala) rs2149108603
NM_000186.4(CFH):c.2072G>C (p.Cys691Ser) rs2149108610
NM_000186.4(CFH):c.2095C>T (p.His699Tyr) rs2529504564
NM_000186.4(CFH):c.2114C>T (p.Ser705Phe)
NM_000186.4(CFH):c.2119C>G (p.Pro707Ala) rs1261903275
NM_000186.4(CFH):c.2124TTA[1] (p.Tyr711del) rs1291819108
NM_000186.4(CFH):c.2135G>C (p.Gly712Ala) rs2149108645
NM_000186.4(CFH):c.2146G>A (p.Glu716Lys)
NM_000186.4(CFH):c.2153A>C (p.Asn718Thr)
NM_000186.4(CFH):c.2156G>T (p.Cys719Phe) rs2529504779
NM_000186.4(CFH):c.2179G>A (p.Gly727Arg) rs767545792
NM_000186.4(CFH):c.218C>T (p.Ala73Val) rs1431540496
NM_000186.4(CFH):c.220C>G (p.Leu74Val) rs368835171
NM_000186.4(CFH):c.220C>T (p.Leu74Phe)
NM_000186.4(CFH):c.2222T>A (p.Leu741His) rs2529504970
NM_000186.4(CFH):c.2224C>T (p.Pro742Ser) rs1313104462
NM_000186.4(CFH):c.2236G>A (p.Ala746Thr) rs2149108691
NM_000186.4(CFH):c.2381A>T (p.Asn794Ile) rs1558179868
NM_000186.4(CFH):c.2414-10T>C rs2529531244
NM_000186.4(CFH):c.242A>C (p.Gln81Pro)
NM_000186.4(CFH):c.2437C>A (p.Pro813Thr) rs2529531414
NM_000186.4(CFH):c.2449A>T (p.Ile817Phe) rs2149113161
NM_000186.4(CFH):c.2459C>T (p.Ser820Phe) rs2529531479
NM_000186.4(CFH):c.2480T>C (p.Leu827Pro)
NM_000186.4(CFH):c.2503G>A (p.Val835Ile) rs1470614367
NM_000186.4(CFH):c.2516G>A (p.Cys839Tyr)
NM_000186.4(CFH):c.2517C>A (p.Cys839Ter) rs1362306576
NM_000186.4(CFH):c.253T>C (p.Cys85Arg)
NM_000186.4(CFH):c.2576A>T (p.Gln859Leu) rs1669420430
NM_000186.4(CFH):c.2578T>C (p.Ser860Pro) rs2529531971
NM_000186.4(CFH):c.2581A>G (p.Ile861Val) rs1573076149
NM_000186.4(CFH):c.2587C>T (p.Leu863Phe) rs2149113241
NM_000186.4(CFH):c.2603T>A (p.Ile868Asn) rs547338983
NM_000186.4(CFH):c.2603T>G (p.Ile868Ser) rs547338983
NM_000186.4(CFH):c.2617C>T (p.Pro873Ser) rs2529534182
NM_000186.4(CFH):c.2618C>A (p.Pro873Gln)
NM_000186.4(CFH):c.2642T>C (p.Ile881Thr) rs2149113479
NM_000186.4(CFH):c.2669G>C (p.Ser890Thr) rs515299
NM_000186.4(CFH):c.2680G>A (p.Gly894Arg) rs769703977
NM_000186.4(CFH):c.2693G>C (p.Ser898Thr) rs1361345512
NM_000186.4(CFH):c.2699C>T (p.Thr900Ile) rs2529534607
NM_000186.4(CFH):c.269A>G (p.Asp90Gly) rs1239695899
NM_000186.4(CFH):c.2702G>C (p.Cys901Ser) rs2529534617
NM_000186.4(CFH):c.2720T>A (p.Ile907Lys)
NM_000186.4(CFH):c.2727A>C (p.Glu909Asp) rs1046246020
NM_000186.4(CFH):c.2737A>G (p.Thr913Ala) rs1652607340
NM_000186.4(CFH):c.2749A>G (p.Met917Val) rs999352193
NM_000186.4(CFH):c.275C>T (p.Pro92Leu) rs886045743
NM_000186.4(CFH):c.2781A>C (p.Glu927Asp)
NM_000186.4(CFH):c.2783-13_2783-12insA rs2529541229
NM_000186.4(CFH):c.2783-3del rs748791414
NM_000186.4(CFH):c.2783-8T>A rs1351891195
NM_000186.4(CFH):c.2783-9T>A rs763209141
NM_000186.4(CFH):c.2783G>T (p.Gly928Val) rs751741940
NM_000186.4(CFH):c.2794A>G (p.Lys932Glu) rs1573079762
NM_000186.4(CFH):c.2797T>A (p.Ser933Thr) rs2529541326
NM_000186.4(CFH):c.2798C>A (p.Ser933Tyr)
NM_000186.4(CFH):c.2820TGT[1] (p.Val942del) rs1383156808
NM_000186.4(CFH):c.2822T>C (p.Val941Ala) rs2149115071
NM_000186.4(CFH):c.2824G>A (p.Val942Ile)
NM_000186.4(CFH):c.2825T>C (p.Val942Ala) rs1573079828
NM_000186.4(CFH):c.2828C>T (p.Ala943Val) rs1652780322
NM_000186.4(CFH):c.2830C>T (p.His944Tyr) rs2529541466
NM_000186.4(CFH):c.2833A>T (p.Met945Leu)
NM_000186.4(CFH):c.2835G>C (p.Met945Ile) rs1052991901
NM_000186.4(CFH):c.2839G>A (p.Asp947Asn) rs777588011
NM_000186.4(CFH):c.2840A>G (p.Asp947Gly) rs1558184527
NM_000186.4(CFH):c.2858AAG[1] (p.Glu954del) rs774399812
NM_000186.4(CFH):c.285T>G (p.Thr95=)
NM_000186.4(CFH):c.2866A>G (p.Thr956Ala) rs2149115102
NM_000186.4(CFH):c.2915A>G (p.Lys972Arg) rs2529541748
NM_000186.4(CFH):c.2918G>A (p.Cys973Tyr) rs1652784548
NM_000186.4(CFH):c.292C>T (p.Leu98Phe)
NM_000186.4(CFH):c.2944C>A (p.Pro982Thr) rs149938052
NM_000186.4(CFH):c.2956+3dup rs2529541895
NM_000186.4(CFH):c.2957-5T>C
NM_000186.4(CFH):c.2959A>G (p.Thr987Ala) rs2529544822
NM_000186.4(CFH):c.295A>C (p.Thr99Pro)
NM_000186.4(CFH):c.2962G>T (p.Asp988Tyr) rs2529544824
NM_000186.4(CFH):c.2966G>A (p.Cys989Tyr) rs2529544832
NM_000186.4(CFH):c.2976A>T (p.Leu992Phe) rs1033156499
NM_000186.4(CFH):c.2997A>G (p.Ile999Met) rs2149115673
NM_000186.4(CFH):c.3002T>C (p.Met1001Thr) rs748231095
NM_000186.4(CFH):c.3010A>G (p.Lys1004Glu) rs773493265
NM_000186.4(CFH):c.3013A>G (p.Lys1005Glu) rs1652820459
NM_000186.4(CFH):c.3034G>A (p.Glu1012Lys) rs955234498
NM_000186.4(CFH):c.3046T>C (p.Tyr1016His) rs1652822143
NM_000186.4(CFH):c.3061T>C (p.Tyr1021His)
NM_000186.4(CFH):c.3065A>G (p.Tyr1022Cys) rs2529545305
NM_000186.4(CFH):c.3070A>G (p.Met1024Val) rs1652822845
NM_000186.4(CFH):c.3076G>A (p.Gly1026Arg) rs2529545337
NM_000186.4(CFH):c.3085A>G (p.Asn1029Asp)
NM_000186.4(CFH):c.3097A>G (p.Ile1033Val) rs2529545410
NM_000186.4(CFH):c.3125C>G (p.Thr1042Arg) rs1652824620
NM_000186.4(CFH):c.3133+4C>A rs374729595
NM_000186.4(CFH):c.3134-5T>C rs513699
NM_000186.4(CFH):c.3169G>A (p.Ala1057Thr) rs1652885970
NM_000186.4(CFH):c.322G>A (p.Val108Ile)
NM_000186.4(CFH):c.32T>C (p.Met11Thr) rs1666520560
NM_000186.4(CFH):c.3310G>A (p.Asp1104Asn)
NM_000186.4(CFH):c.3310G>C (p.Asp1104His)
NM_000186.4(CFH):c.3311-3T>C rs2529556499
NM_000186.4(CFH):c.3313T>G (p.Ser1105Ala)
NM_000186.4(CFH):c.331G>C (p.Val111Leu)
NM_000186.4(CFH):c.3326G>A (p.Cys1109Tyr)
NM_000186.4(CFH):c.3326G>C (p.Cys1109Ser) rs2529556534
NM_000186.4(CFH):c.3382_3385del (p.Tyr1128fs) rs2529557099
NM_000186.4(CFH):c.3392C>G (p.Ala1131Gly) rs2529557109
NM_000186.4(CFH):c.3395C>T (p.Ser1132Leu)
NM_000186.4(CFH):c.3404A>T (p.Glu1135Val) rs2149118040
NM_000186.4(CFH):c.3427C>A (p.Gln1143Lys) rs15809
NM_000186.4(CFH):c.342T>G (p.Cys114Trp)
NM_000186.4(CFH):c.3461A>C (p.Asn1154Thr) rs2529557287
NM_000186.4(CFH):c.3478C>G (p.Pro1160Ala) rs2529557332
NM_000186.4(CFH):c.349G>A (p.Gly117Arg) rs2149078297
NM_000186.4(CFH):c.350+4T>G
NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe) rs2149118712
NM_000186.4(CFH):c.3640T>A (p.Leu1214Met) rs750755559
NM_000186.4(CFH):c.379C>T (p.Arg127Cys)
NM_000186.4(CFH):c.395A>G (p.Asp132Gly) rs2529339475
NM_000186.4(CFH):c.402G>C (p.Trp134Cys) rs997127130
NM_000186.4(CFH):c.418A>G (p.Ile140Val) rs1351991613
NM_000186.4(CFH):c.428-5T>A
NM_000186.4(CFH):c.428-8T>G
NM_000186.4(CFH):c.464G>A (p.Gly155Glu)
NM_000186.4(CFH):c.469A>G (p.Ile157Val) rs2529344618
NM_000186.4(CFH):c.493G>T (p.Asp165Tyr) rs1279011591
NM_000186.4(CFH):c.497G>A (p.Arg166Gln) rs770339409
NM_000186.4(CFH):c.497G>T (p.Arg166Leu) rs770339409
NM_000186.4(CFH):c.509T>A (p.Phe170Tyr)
NM_000186.4(CFH):c.50T>G (p.Val17Gly) rs1308826580
NM_000186.4(CFH):c.58+5G>T rs2529283900
NM_000186.4(CFH):c.58G>A (p.Asp20Asn) rs1553270437
NM_000186.4(CFH):c.590T>C (p.Phe197Ser) rs2529345567
NM_000186.4(CFH):c.626C>T (p.Ser209Leu)
NM_000186.4(CFH):c.640G>T (p.Asp214Tyr) rs530228595
NM_000186.4(CFH):c.642T>A (p.Asp214Glu) rs775212665
NM_000186.4(CFH):c.709T>C (p.Cys237Arg) rs2529353077
NM_000186.4(CFH):c.70C>G (p.Leu24Val)
NM_000186.4(CFH):c.717G>A (p.Met239Ile)
NM_000186.4(CFH):c.724G>A (p.Glu242Lys) rs1667584357
NM_000186.4(CFH):c.743A>G (p.Asp248Gly) rs2529353226
NM_000186.4(CFH):c.744T>A (p.Asp248Glu) rs1317844596
NM_000186.4(CFH):c.752G>A (p.Cys251Tyr) rs2529353261
NM_000186.4(CFH):c.7C>G (p.Leu3Val) rs139254423
NM_000186.4(CFH):c.805A>T (p.Asn269Tyr)
NM_000186.4(CFH):c.820A>G (p.Asn274Asp) rs2529370808
NM_000186.4(CFH):c.823G>A (p.Gly275Ser) rs1441269201
NM_000186.4(CFH):c.828C>G (p.Asp276Glu) rs1407449411
NM_000186.4(CFH):c.878A>G (p.Gln293Arg) rs1291371710
NM_000186.4(CFH):c.898C>T (p.Pro300Ser)
NM_000186.4(CFH):c.908G>A (p.Arg303Gln)
NM_000186.4(CFH):c.911G>A (p.Gly304Glu) rs1403000919
NM_000186.4(CFH):c.937G>A (p.Gly313Ser)
NM_000186.4(CFH):c.958T>C (p.Cys320Arg) rs1558159702
NM_000186.4(CFH):c.95T>A (p.Ile32Asn) rs2529329257
NM_000186.4(CFH):c.962C>A (p.Thr321Asn) rs745407413
NM_000186.4(CFH):c.966G>A (p.Leu322=) rs2529385910
NM_000186.4(CFH):c.989T>G (p.Ile330Ser) rs200203654

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