ClinVar Miner

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

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ClinVar version:
Total variants: 98
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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.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.2190C>T (p.Tyr730=) rs142455019 0.00055
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.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.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.987C>T (p.Thr329=) rs748313429 0.00009
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.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.1854C>T (p.Asp618=) rs570503574 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.2668C>T (p.Pro890Ser) rs531463049 0.00004
NM_000064.4(C3):c.305G>A (p.Arg102His) rs554587967 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.1479+13C>G rs368352750 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.3647-13A>G rs760807491 0.00002
NM_000064.4(C3):c.4484C>T (p.Pro1495Leu) rs368362113 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.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.2583+13G>A rs774609150 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.899T>C (p.Val300Ala) rs756370451 0.00001
NM_000064.4(C3):c.976G>A (p.Val326Met) rs375264020 0.00001
NM_000064.4(C3):c.1402G>A (p.Gly468Arg) rs148820222
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.373dup (p.Leu125fs) rs1337559480
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.683-4C>G rs377240996
NM_000064.4(C3):c.965A>G (p.Lys322Arg) rs746892541
NM_000064.4(C3):c.975C>T (p.Tyr325=) rs1301665029

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