ClinVar Miner

List of variants studied for Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 276
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HGVS dbSNP gnomAD frequency
NM_000064.4(C3):c.1976-19C>T rs11569433 0.00656
NM_000064.4(C3):c.1119+15G>A rs114252882 0.00399
NM_000064.4(C3):c.3958C>A (p.Arg1320=) rs141718696 0.00386
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.2394C>T (p.Ser798=) rs112178657 0.00237
NM_000064.4(C3):c.1686+20G>A rs76024222 0.00212
NM_000064.4(C3):c.2245+15G>A rs11569434 0.00192
NM_000064.4(C3):c.2685C>T (p.Ser895=) rs138884408 0.00189
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609 0.00142
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210 0.00118
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.1898A>G (p.Lys633Arg) rs140655115 0.00058
NM_000064.4(C3):c.2190C>T (p.Tyr730=) rs142455019 0.00055
NM_000064.4(C3):c.26T>C (p.Leu9Pro) rs138214338 0.00053
NM_000064.4(C3):c.1449C>T (p.His483=) rs140133060 0.00044
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_000064.4(C3):c.1855G>A (p.Val619Met) rs146613648 0.00041
NM_000064.4(C3):c.1909G>C (p.Gly637Arg) rs149850773 0.00031
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_000064.4(C3):c.4791G>A (p.Glu1597=) rs149675330 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_000064.4(C3):c.1722G>A (p.Gln574=) rs140143815 0.00014
NM_000064.4(C3):c.4667A>G (p.Asn1556Ser) rs139381845 0.00014
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.4148C>A (p.Thr1383Asn) rs139100972 0.00011
NM_000064.4(C3):c.420C>A (p.Thr140=) rs182399298 0.00011
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.4535G>A (p.Arg1512His) rs142868256 0.00009
NM_000064.4(C3):c.987C>T (p.Thr329=) rs748313429 0.00009
NM_000064.4(C3):c.1758G>A (p.Glu586=) rs764201055 0.00007
NM_000064.4(C3):c.2951-5T>C rs375107570 0.00007
NM_000064.4(C3):c.3124C>T (p.Arg1042Trp) rs550043629 0.00007
NM_000064.4(C3):c.1988C>G (p.Pro663Arg) rs112187261 0.00006
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_000064.4(C3):c.4095C>G (p.Val1365=) rs527830114 0.00006
NM_000064.4(C3):c.562G>A (p.Val188Ile) rs765821415 0.00006
NM_000064.4(C3):c.1819A>G (p.Lys607Glu) rs140637006 0.00005
NM_000064.4(C3):c.1854C>T (p.Asp618=) rs570503574 0.00005
NM_000064.4(C3):c.193A>C (p.Lys65Gln) rs539992721 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_000064.4(C3):c.1274G>T (p.Arg425Leu) rs201714568 0.00004
NM_000064.4(C3):c.1508C>T (p.Ala503Val) rs781417846 0.00004
NM_000064.4(C3):c.1717C>T (p.Arg573Trp) rs539270017 0.00004
NM_000064.4(C3):c.2668C>T (p.Pro890Ser) rs531463049 0.00004
NM_000064.4(C3):c.3023C>T (p.Ser1008Leu) rs746172422 0.00004
NM_000064.4(C3):c.3024G>A (p.Ser1008=) rs779366181 0.00004
NM_000064.4(C3):c.305G>A (p.Arg102His) rs554587967 0.00004
NM_000064.4(C3):c.3431C>T (p.Thr1144Met) rs150237828 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_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_000064.4(C3):c.1215C>T (p.Gly405=) rs749682730 0.00002
NM_000064.4(C3):c.1479+13C>G rs368352750 0.00002
NM_000064.4(C3):c.1685C>T (p.Ser562Leu) rs200541526 0.00002
NM_000064.4(C3):c.1835C>T (p.Thr612Met) rs201572752 0.00002
NM_000064.4(C3):c.2441-16G>T rs201726041 0.00002
NM_000064.4(C3):c.283G>A (p.Glu95Lys) rs746332934 0.00002
NM_000064.4(C3):c.2983G>A (p.Val995Ile) rs759285914 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_000064.4(C3):c.876+4C>T rs779604113 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.1702G>A (p.Gly568Ser) rs749836289 0.00001
NM_000064.4(C3):c.1792G>A (p.Val598Met) rs1023851263 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.2543G>A (p.Arg848Gln) rs756642830 0.00001
NM_000064.4(C3):c.2583+13G>A rs774609150 0.00001
NM_000064.4(C3):c.2642G>A (p.Arg881His) rs1443451793 0.00001
NM_000064.4(C3):c.28C>A (p.Leu10Met) rs756577495 0.00001
NM_000064.4(C3):c.322G>A (p.Val108Met) rs747923416 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.683-3C>A rs1293161211 0.00001
NM_000064.4(C3):c.899T>C (p.Val300Ala) rs756370451 0.00001
NM_000064.4(C3):c.911G>A (p.Arg304Gln) rs866279562 0.00001
NM_000064.4(C3):c.976G>A (p.Val326Met) rs375264020 0.00001
NM_000064.4(C3):c.1003+1G>A
NM_000064.4(C3):c.1007G>T (p.Ser336Ile)
NM_000064.4(C3):c.1021G>A (p.Ala341Thr)
NM_000064.4(C3):c.108G>A (p.Leu36=)
NM_000064.4(C3):c.1147C>G (p.Pro383Ala)
NM_000064.4(C3):c.1175A>G (p.Gln392Arg)
NM_000064.4(C3):c.1189G>A (p.Val397Met)
NM_000064.4(C3):c.1254G>T (p.Lys418Asn)
NM_000064.4(C3):c.1262G>A (p.Ser421Asn)
NM_000064.4(C3):c.1313C>G (p.Thr438Ser)
NM_000064.4(C3):c.1352A>G (p.Asn451Ser)
NM_000064.4(C3):c.1354T>A (p.Ser452Thr)
NM_000064.4(C3):c.1370A>G (p.His457Arg)
NM_000064.4(C3):c.1397G>C (p.Arg466Thr)
NM_000064.4(C3):c.1402G>A (p.Gly468Arg) rs148820222
NM_000064.4(C3):c.1416C>G (p.Asn472Lys)
NM_000064.4(C3):c.1448A>C (p.His483Pro)
NM_000064.4(C3):c.1462C>T (p.Arg488Cys)
NM_000064.4(C3):c.1479+16G>C
NM_000064.4(C3):c.1479+19A>C
NM_000064.4(C3):c.1479+5G>A
NM_000064.4(C3):c.1480-9T>G
NM_000064.4(C3):c.1514G>A (p.Arg505His)
NM_000064.4(C3):c.1523G>C (p.Arg508Pro)
NM_000064.4(C3):c.1532G>A (p.Gly511Asp)
NM_000064.4(C3):c.1537G>A (p.Asp513Asn)
NM_000064.4(C3):c.1570G>A (p.Asp524Asn)
NM_000064.4(C3):c.1598C>T (p.Ala533Val)
NM_000064.4(C3):c.1636G>T (p.Val546Leu)
NM_000064.4(C3):c.1700G>A (p.Ser567Asn)
NM_000064.4(C3):c.1718G>A (p.Arg573Gln)
NM_000064.4(C3):c.1718G>T (p.Arg573Leu)
NM_000064.4(C3):c.1723C>T (p.Pro575Ser)
NM_000064.4(C3):c.176T>C (p.Val59Ala)
NM_000064.4(C3):c.1775G>A (p.Arg592Gln) rs121909583
NM_000064.4(C3):c.1843A>G (p.Lys615Glu)
NM_000064.4(C3):c.1858G>T (p.Val620Leu)
NM_000064.4(C3):c.1859T>C (p.Val620Ala)
NM_000064.4(C3):c.1909G>A (p.Gly637Ser)
NM_000064.4(C3):c.1920C>T (p.Ser640=) rs139693406
NM_000064.4(C3):c.1946G>C (p.Ser649Thr)
NM_000064.4(C3):c.1963G>A (p.Ala655Thr)
NM_000064.4(C3):c.1964C>T (p.Ala655Val)
NM_000064.4(C3):c.1979T>C (p.Leu660Pro)
NM_000064.4(C3):c.1997C>T (p.Ala666Val)
NM_000064.4(C3):c.2048-9C>T
NM_000064.4(C3):c.2096G>A (p.Arg699Gln)
NM_000064.4(C3):c.20C>T (p.Pro7Leu)
NM_000064.4(C3):c.2135G>A (p.Arg712His)
NM_000064.4(C3):c.2216C>T (p.Ala739Val)
NM_000064.4(C3):c.2235C>T (p.Gly745=)
NM_000064.4(C3):c.2244G>A (p.Arg748=)
NM_000064.4(C3):c.2245+4G>A
NM_000064.4(C3):c.2260G>A (p.Asp754Asn)
NM_000064.4(C3):c.2290C>T (p.Arg764Ter)
NM_000064.4(C3):c.2315T>C (p.Leu772Pro)
NM_000064.4(C3):c.2326G>C (p.Glu776Gln) rs2145417819
NM_000064.4(C3):c.2373G>A (p.Met791Ile)
NM_000064.4(C3):c.2379A>G (p.Ile793Met)
NM_000064.4(C3):c.2416G>T (p.Ala806Ser)
NM_000064.4(C3):c.2425A>T (p.Met809Leu)
NM_000064.4(C3):c.2431G>C (p.Asp811His)
NM_000064.4(C3):c.2527G>A (p.Glu843Lys) rs771305132
NM_000064.4(C3):c.2567A>G (p.Gln856Arg)
NM_000064.4(C3):c.2583+3G>A
NM_000064.4(C3):c.2588G>A (p.Arg863Lys)
NM_000064.4(C3):c.2596C>G (p.Leu866Val) rs1003444388
NM_000064.4(C3):c.2615del (p.Phe872fs)
NM_000064.4(C3):c.2656G>A (p.Val886Ile)
NM_000064.4(C3):c.267+3G>A
NM_000064.4(C3):c.2686G>A (p.Val896Ile)
NM_000064.4(C3):c.2686G>C (p.Val896Leu)
NM_000064.4(C3):c.2706G>C (p.Pro902=)
NM_000064.4(C3):c.276del (p.Asn93fs)
NM_000064.4(C3):c.2771G>A (p.Gly924Asp)
NM_000064.4(C3):c.2825_2826del (p.Val942fs)
NM_000064.4(C3):c.2852G>A (p.Arg951His)
NM_000064.4(C3):c.2852G>T (p.Arg951Leu)
NM_000064.4(C3):c.2863+1G>T
NM_000064.4(C3):c.2929G>A (p.Glu977Lys)
NM_000064.4(C3):c.2950+5G>C
NM_000064.4(C3):c.2951-5_2951-3del rs544122376
NM_000064.4(C3):c.2972C>T (p.Thr991Ile)
NM_000064.4(C3):c.2996G>A (p.Arg999Gln)
NM_000064.4(C3):c.3059C>T (p.Pro1020Leu)
NM_000064.4(C3):c.3095A>C (p.Glu1032Ala)
NM_000064.4(C3):c.3130G>C (p.Gly1044Arg)
NM_000064.4(C3):c.3155-11C>T
NM_000064.4(C3):c.3155-17CT[3]
NM_000064.4(C3):c.3208G>A (p.Val1070Met)
NM_000064.4(C3):c.3294A>G (p.Gln1098=)
NM_000064.4(C3):c.3295G>A (p.Val1099Ile)
NM_000064.4(C3):c.3403A>G (p.Asn1135Asp)
NM_000064.4(C3):c.3433G>A (p.Ala1145Thr)
NM_000064.4(C3):c.3457G>A (p.Glu1153Lys)
NM_000064.4(C3):c.3488A>C (p.Asn1163Thr)
NM_000064.4(C3):c.3490-13C>T
NM_000064.4(C3):c.3556T>G (p.Ser1186Ala)
NM_000064.4(C3):c.3599G>A (p.Gly1200Asp)
NM_000064.4(C3):c.3605T>C (p.Leu1202Pro)
NM_000064.4(C3):c.367G>T (p.Val123Phe)
NM_000064.4(C3):c.3687del (p.Asn1229fs)
NM_000064.4(C3):c.373dup (p.Leu125fs) rs1337559480
NM_000064.4(C3):c.3794G>A (p.Gly1265Asp)
NM_000064.4(C3):c.3869A>G (p.Gln1290Arg)
NM_000064.4(C3):c.3880C>T (p.Leu1294Phe)
NM_000064.4(C3):c.3890C>T (p.Ser1297Phe)
NM_000064.4(C3):c.3969+3A>G
NM_000064.4(C3):c.3976G>C (p.Glu1326Gln)
NM_000064.4(C3):c.4003_4004delinsAT (p.Glu1335Ile)
NM_000064.4(C3):c.4028C>T (p.Ser1343Leu)
NM_000064.4(C3):c.4070C>A (p.Thr1357Asn)
NM_000064.4(C3):c.4234G>A (p.Ala1412Thr)
NM_000064.4(C3):c.4234G>T (p.Ala1412Ser)
NM_000064.4(C3):c.4261-6C>T
NM_000064.4(C3):c.4299G>T (p.Glu1433Asp)
NM_000064.4(C3):c.4310_4311delinsTT (p.Ala1437Val)
NM_000064.4(C3):c.4314C>T (p.Phe1438=)
NM_000064.4(C3):c.432A>G (p.Thr144=)
NM_000064.4(C3):c.4351-12C>T
NM_000064.4(C3):c.4379C>G (p.Ala1460Gly)
NM_000064.4(C3):c.4411C>A (p.Leu1471Ile)
NM_000064.4(C3):c.445A>T (p.Ile149Phe)
NM_000064.4(C3):c.4478A>G (p.Tyr1493Cys)
NM_000064.4(C3):c.453C>T (p.Thr151=) rs148870667
NM_000064.4(C3):c.4547-16C>G rs1414347444
NM_000064.4(C3):c.4570G>C (p.Asp1524His)
NM_000064.4(C3):c.4604A>G (p.Lys1535Arg)
NM_000064.4(C3):c.4643G>A (p.Arg1548Gln)
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) rs149202905
NM_000064.4(C3):c.4697A>G (p.Glu1566Gly)
NM_000064.4(C3):c.4730A>T (p.Gln1577Leu)
NM_000064.4(C3):c.4745G>A (p.Arg1582His)
NM_000064.4(C3):c.478G>A (p.Gly160Ser)
NM_000064.4(C3):c.4821C>G (p.Leu1607=)
NM_000064.4(C3):c.4843A>G (p.Lys1615Glu)
NM_000064.4(C3):c.4873G>C (p.Asp1625His)
NM_000064.4(C3):c.4887G>C (p.Glu1629Asp)
NM_000064.4(C3):c.4918del (p.Glu1640fs)
NM_000064.4(C3):c.4947C>T (p.Leu1649=)
NM_000064.4(C3):c.533A>G (p.Asp178Gly)
NM_000064.4(C3):c.587C>T (p.Pro196Leu)
NM_000064.4(C3):c.595G>A (p.Val199Ile)
NM_000064.4(C3):c.629A>G (p.Tyr210Cys)
NM_000064.4(C3):c.636C>G (p.Asn212Lys)
NM_000064.4(C3):c.680A>G (p.Tyr227Cys)
NM_000064.4(C3):c.683-4C>G rs377240996
NM_000064.4(C3):c.688C>G (p.Pro230Ala)
NM_000064.4(C3):c.744G>C (p.Glu248Asp)
NM_000064.4(C3):c.765C>T (p.Ile255=)
NM_000064.4(C3):c.774-1G>T
NM_000064.4(C3):c.836A>C (p.Glu279Ala)
NM_000064.4(C3):c.85A>G (p.Ile29Val) rs1420892330
NM_000064.4(C3):c.863T>G (p.Leu288Arg)
NM_000064.4(C3):c.869G>A (p.Arg290His)
NM_000064.4(C3):c.875C>T (p.Pro292Leu)
NM_000064.4(C3):c.890C>T (p.Ser297Leu)
NM_000064.4(C3):c.965A>G (p.Lys322Arg) rs746892541
NM_000064.4(C3):c.975C>T (p.Tyr325=) rs1301665029

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