ClinVar Miner

List of variants in gene C3 studied for atypical hemolytic-uremic syndrome with C3 anomaly

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 230
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HGVS dbSNP gnomAD frequency
NM_000064.4(C3):c.2745T>C (p.Ala915=) rs423490 0.76736
NM_000064.4(C3):c.2246-8C>T rs406514 0.76696
NM_000064.4(C3):c.2863+7C>T rs2287845 0.65549
NM_000064.4(C3):c.2421G>C (p.Val807=) rs428453 0.65502
NM_000064.4(C3):c.4896C>T (p.Pro1632=) rs17030 0.50596
NM_000064.4(C3):c.4457-4G>A rs2277984 0.49417
NM_000064.4(C3):c.1692G>A (p.Val564=) rs2230204 0.36996
NM_000064.4(C3):c.912G>A (p.Arg304=) rs2230201 0.15982
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_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_000064.4(C3):c.4311C>T (p.Ala1437=) rs7951 0.08524
NM_000064.4(C3):c.4631-8C>T rs11569565 0.06993
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_000064.4(C3):c.1407G>C (p.Glu469Asp) rs11569422 0.01362
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_000064.4(C3):c.1976-19C>T rs11569433 0.00656
NM_000064.4(C3):c.1653G>T (p.Val551=) rs344534 0.00648
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534 0.00573
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.3958C>A (p.Arg1320=) rs141718696 0.00386
NM_000064.4(C3):c.-28C>G rs339394 0.00341
NM_000064.4(C3):c.600-14C>T rs3745558 0.00289
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_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.2203C>T (p.Arg735Trp) rs117793540 0.00198
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.3216G>T (p.Arg1072=) rs137880434 0.00183
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609 0.00142
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_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.4767G>A (p.Lys1589=) rs144589541 0.00083
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.1480-4C>A rs200965763 0.00050
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.-44C>T rs773043245 0.00039
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_000064.4(C3):c.1909G>C (p.Gly637Arg) rs149850773 0.00031
NM_000064.4(C3):c.2799G>A (p.Pro933=) rs149209011 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.1873A>T (p.Ile625Phe) rs144432231 0.00023
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.774-4G>A rs368095422 0.00019
NM_000064.4(C3):c.4319A>C (p.Asp1440Ala) rs147116781 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.1722G>A (p.Gln574=) rs140143815 0.00014
NM_000064.4(C3):c.2184C>T (p.Cys728=) rs200258941 0.00014
NM_000064.4(C3):c.4667A>G (p.Asn1556Ser) rs139381845 0.00014
NM_000064.4(C3):c.2861G>A (p.Arg954His) rs139864704 0.00012
NM_000064.4(C3):c.681C>T (p.Tyr227=) rs756694755 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.4148C>A (p.Thr1383Asn) rs139100972 0.00011
NM_000064.4(C3):c.420C>A (p.Thr140=) rs182399298 0.00011
NM_000064.4(C3):c.4030-4C>T rs372612816 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.2797-5C>T rs369673832 0.00009
NM_000064.4(C3):c.3655C>T (p.Arg1219Cys) rs373102036 0.00009
NM_000064.4(C3):c.3687C>T (p.Asn1229=) rs201108539 0.00009
NM_000064.4(C3):c.4535G>A (p.Arg1512His) rs142868256 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_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.2207G>A (p.Arg736Gln) rs578116271 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.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_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.2907C>T (p.Asp969=) rs144672500 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.4257G>A (p.Lys1419=) rs768065757 0.00006
NM_000064.4(C3):c.763A>G (p.Ile255Val) rs746486431 0.00006
NM_000064.4(C3):c.1119+14C>T rs374368486 0.00005
NM_000064.4(C3):c.1470C>T (p.Tyr490=) rs762635358 0.00005
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.3953T>G (p.Leu1318Arg) rs769873702 0.00005
NM_000064.4(C3):c.4084G>A (p.Asp1362Asn) rs368788004 0.00005
NM_000064.4(C3):c.4471C>T (p.Arg1491Trp) rs140928439 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.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.3299T>C (p.Leu1100Pro) rs750654763 0.00004
NM_000064.4(C3):c.4353C>G (p.Val1451=) rs750821412 0.00004
NM_000064.4(C3):c.4803C>T (p.His1601=) rs762332809 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.48C>A (p.His16Gln) rs184455094 0.00003
NM_000064.4(C3):c.4906G>C (p.Glu1636Gln) rs139388954 0.00003
NM_000064.4(C3):c.1303G>A (p.Glu435Lys) rs774826179 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.283G>A (p.Glu95Lys) rs746332934 0.00002
NM_000064.4(C3):c.3015G>T (p.Val1005=) rs1340489185 0.00002
NM_000064.4(C3):c.3411C>T (p.Asn1137=) rs753019751 0.00002
NM_000064.4(C3):c.3449C>G (p.Ser1150Trp) rs1178318400 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.1042A>G (p.Ile348Val) rs141737564 0.00001
NM_000064.4(C3):c.1047G>C (p.Val349=) rs747191565 0.00001
NM_000064.4(C3):c.1296G>A (p.Ser432=) rs760150621 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.2441-6G>A rs752216964 0.00001
NM_000064.4(C3):c.2583+13G>A rs774609150 0.00001
NM_000064.4(C3):c.2583+9C>T rs372400121 0.00001
NM_000064.4(C3):c.2646C>T (p.His882=) rs377316231 0.00001
NM_000064.4(C3):c.2793C>T (p.Val931=) rs781226831 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.3970-15C>G rs1233140401 0.00001
NM_000064.4(C3):c.3993A>G (p.Thr1331=) rs202210310 0.00001
NM_000064.4(C3):c.4121-4C>T rs747452882 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.443G>A (p.Arg148Gln) rs886054657 0.00001
NM_000064.4(C3):c.452C>G (p.Thr151Ser) rs1968082456 0.00001
NM_000064.4(C3):c.4534C>T (p.Arg1512Cys) rs1408701335 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.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_000064.4(C3):c.899T>C (p.Val300Ala) rs756370451 0.00001
NM_000064.4(C3):c.976G>A (p.Val326Met) rs375264020 0.00001
NM_000064.3(C3):c.-75A>C rs1316357912
NM_000064.4(C3):c.1125C>A (p.Phe375Leu)
NM_000064.4(C3):c.1269+14C>A rs886054655
NM_000064.4(C3):c.1402G>A (p.Gly468Arg) rs148820222
NM_000064.4(C3):c.145G>T (p.Ala49Ser)
NM_000064.4(C3):c.1554C>A (p.Pro518=) rs2230203
NM_000064.4(C3):c.1686+10C>T rs776885748
NM_000064.4(C3):c.1725T>C (p.Pro575=) rs1967865144
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.2390A>C (p.Asp797Ala) rs1967690681
NM_000064.4(C3):c.2429C>T (p.Ser810Leu) rs781280055
NM_000064.4(C3):c.2531A>G (p.Gln844Arg) rs1599510478
NM_000064.4(C3):c.2562C>G (p.Tyr854Ter) rs121909586
NM_000064.4(C3):c.2584G>T (p.Val862Leu) rs1967565745
NM_000064.4(C3):c.2617T>C (p.Cys873Arg) rs1967565177
NM_000064.4(C3):c.267+9A>G rs762058420
NM_000064.4(C3):c.2670C>G (p.Pro890=) rs137956083
NM_000064.4(C3):c.2700C>G (p.Ile900Met) rs763155610
NM_000064.4(C3):c.2857G>A (p.Gly953Ser) rs779124363
NM_000064.4(C3):c.2863+15G>T rs759976981
NM_000064.4(C3):c.2951-5_2951-3del rs544122376
NM_000064.4(C3):c.3281C>T (p.Ala1094Val) rs121909584
NM_000064.4(C3):c.3326T>G (p.Leu1109Arg)
NM_000064.4(C3):c.3343G>A (p.Asp1115Asn) rs121909585
NM_000064.4(C3):c.3407A>G (p.Asn1136Ser) rs1918144043
NM_000064.4(C3):c.3537C>A (p.Asn1179Lys) rs1918021723
NM_000064.4(C3):c.3586C>T (p.Leu1196=) rs1918019867
NM_000064.4(C3):c.3737_3738del (p.Asp1245_Phe1246insTer) rs1568212112
NM_000064.4(C3):c.373dup (p.Leu125fs) rs1337559480
NM_000064.4(C3):c.3753C>A (p.Pro1251=) rs2230209
NM_000064.4(C3):c.3793G>A (p.Gly1265Ser) rs1918001974
NM_000064.4(C3):c.3908G>A (p.Arg1303His) rs775015499
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.4645C>T (p.Leu1549=) rs149202905
NM_000064.4(C3):c.481C>T (p.Arg161Trp) rs776423109
NM_000064.4(C3):c.4867G>T (p.Gly1623Trp)
NM_000064.4(C3):c.4947C>T (p.Leu1649=)
NM_000064.4(C3):c.640C>T (p.Pro214Ser) rs794729228
NM_000064.4(C3):c.683-4C>G rs377240996
NM_000064.4(C3):c.75-1G>A
NM_000064.4(C3):c.819C>T (p.Phe273=) rs886054656
NM_000064.4(C3):c.965A>G (p.Lys322Arg) rs746892541
NM_000064.4(C3):c.975C>T (p.Tyr325=) rs1301665029

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