ClinVar Miner

List of variants in gene C3 reported as uncertain significance for age related macular degeneration 9

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 273
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257 0.00250
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210 0.00118
NM_000064.4(C3):c.1898A>G (p.Lys633Arg) rs140655115 0.00058
NM_000064.4(C3):c.26T>C (p.Leu9Pro) rs138214338 0.00053
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.1873A>T (p.Ile625Phe) rs144432231 0.00023
NM_000064.4(C3):c.4319A>C (p.Asp1440Ala) rs147116781 0.00017
NM_000064.4(C3):c.2157G>A (p.Ala719=) rs143671993 0.00016
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.2204G>A (p.Arg735Gln) rs201285239 0.00011
NM_000064.4(C3):c.4148C>A (p.Thr1383Asn) rs139100972 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.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.1758G>A (p.Glu586=) rs764201055 0.00007
NM_000064.4(C3):c.2207G>A (p.Arg736Gln) rs578116271 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.1988C>G (p.Pro663Arg) rs112187261 0.00006
NM_000064.4(C3):c.2248A>T (p.Asn750Tyr) rs769294331 0.00006
NM_000064.4(C3):c.2907C>T (p.Asp969=) rs144672500 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.562G>A (p.Val188Ile) rs765821415 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.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.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.3299T>C (p.Leu1100Pro) rs750654763 0.00004
NM_000064.4(C3):c.3431C>T (p.Thr1144Met) rs150237828 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.1164C>T (p.Pro388=) rs769368306 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.48C>A (p.His16Gln) rs184455094 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.1303G>A (p.Glu435Lys) rs774826179 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.3411C>T (p.Asn1137=) rs753019751 0.00002
NM_000064.4(C3):c.3449C>G (p.Ser1150Trp) rs1178318400 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.1042A>G (p.Ile348Val) rs141737564 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.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.2441-6G>A rs752216964 0.00001
NM_000064.4(C3):c.2543G>A (p.Arg848Gln) rs756642830 0.00001
NM_000064.4(C3):c.2583+9C>T rs372400121 0.00001
NM_000064.4(C3):c.2642G>A (p.Arg881His) rs1443451793 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.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.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.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.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.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_000064.3(C3):c.-75A>C rs1316357912
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.1269+14C>A rs886054655
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.1686+10C>T rs776885748
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.1725T>C (p.Pro575=) rs1967865144
NM_000064.4(C3):c.176T>C (p.Val59Ala)
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.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.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.2390A>C (p.Asp797Ala) rs1967690681
NM_000064.4(C3):c.2416G>T (p.Ala806Ser)
NM_000064.4(C3):c.2425A>T (p.Met809Leu)
NM_000064.4(C3):c.2429C>T (p.Ser810Leu) rs781280055
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.2584G>T (p.Val862Leu) rs1967565745
NM_000064.4(C3):c.2588G>A (p.Arg863Lys)
NM_000064.4(C3):c.2596C>G (p.Leu866Val) rs1003444388
NM_000064.4(C3):c.2617T>C (p.Cys873Arg) rs1967565177
NM_000064.4(C3):c.2656G>A (p.Val886Ile)
NM_000064.4(C3):c.267+3G>A
NM_000064.4(C3):c.267+9A>G rs762058420
NM_000064.4(C3):c.2670C>G (p.Pro890=) rs137956083
NM_000064.4(C3):c.2686G>A (p.Val896Ile)
NM_000064.4(C3):c.2686G>C (p.Val896Leu)
NM_000064.4(C3):c.2700C>G (p.Ile900Met) rs763155610
NM_000064.4(C3):c.2706G>C (p.Pro902=)
NM_000064.4(C3):c.2771G>A (p.Gly924Asp)
NM_000064.4(C3):c.2852G>A (p.Arg951His)
NM_000064.4(C3):c.2852G>T (p.Arg951Leu)
NM_000064.4(C3):c.2857G>A (p.Gly953Ser) rs779124363
NM_000064.4(C3):c.2863+15G>T rs759976981
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.3407A>G (p.Asn1136Ser) rs1918144043
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.3586C>T (p.Leu1196=) rs1918019867
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.3793G>A (p.Gly1265Ser) rs1918001974
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.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>T (p.Leu1549=) 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.4867G>T (p.Gly1623Trp)
NM_000064.4(C3):c.4873G>C (p.Asp1625His)
NM_000064.4(C3):c.4887G>C (p.Glu1629Asp)
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.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.819C>T (p.Phe273=) rs886054656
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.