ClinVar Miner

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

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 118
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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.1164C>T (p.Pro388=) rs769368306 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.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.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.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.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.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.283G>A (p.Glu95Lys) rs746332934 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.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.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.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.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.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.1269+14C>A rs886054655
NM_000064.4(C3):c.1402G>A (p.Gly468Arg) rs148820222
NM_000064.4(C3):c.1686+10C>T rs776885748
NM_000064.4(C3):c.1725T>C (p.Pro575=) rs1967865144
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.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.3407A>G (p.Asn1136Ser) rs1918144043
NM_000064.4(C3):c.3586C>T (p.Leu1196=) rs1918019867
NM_000064.4(C3):c.3793G>A (p.Gly1265Ser) rs1918001974
NM_000064.4(C3):c.453C>T (p.Thr151=) rs148870667
NM_000064.4(C3):c.4645C>T (p.Leu1549=) rs149202905
NM_000064.4(C3):c.4867G>T (p.Gly1623Trp)
NM_000064.4(C3):c.4947C>T (p.Leu1649=)
NM_000064.4(C3):c.819C>T (p.Phe273=) rs886054656
NM_000064.4(C3):c.965A>G (p.Lys322Arg) rs746892541

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