ClinVar Miner

List of variants studied for complement component 2 deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_001710.6(CFB):c.450A>G (p.Arg150=) rs1048709 0.85323
NM_001710.5(CFB):c.94C>T (p.Arg32Trp) rs12614 0.17324
NM_000063.6(C2):c.1023G>A (p.Ala341=) rs1042663 0.11857
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153 0.11820
NM_000063.6(C2):c.1902+6G>C rs9332730 0.05089
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_000063.6(C2):c.954G>C (p.Glu318Asp) rs9332739 0.03307
NM_001710.6(CFB):c.504G>A (p.Pro168=) rs4151669 0.03288
NM_001710.6(CFB):c.754G>A (p.Gly252Ser) rs4151651 0.02344
NM_001710.6(CFB):c.672C>T (p.Tyr224=) rs4151670 0.02070
NM_001710.6(CFB):c.1365C>T (p.Val455=) rs2072634 0.01961
NM_000063.6(C2):c.1922T>C (p.Val641Ala) rs36221133 0.01554
NM_001710.6(CFB):c.405C>T (p.Tyr135=) rs4151650 0.01202
NM_001710.6(CFB):c.1137C>T (p.Arg379=) rs45600936 0.00911
NM_000063.6(C2):c.2200C>T (p.Arg734Cys) rs4151648 0.00474
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) rs149101394 0.00391
NM_000063.6(C2):c.443-4G>A rs9332719 0.00380
NM_001710.6(CFB):c.858C>T (p.Phe286=) rs117905900 0.00285
NM_001710.6(CFB):c.1143C>T (p.Arg381=) rs150920440 0.00175
NM_000063.6(C2):c.2046A>G (p.Ala682=) rs45507391 0.00154
NM_000063.6(C2):c.1778G>A (p.Arg593Gln) rs150878060 0.00133
NM_000063.6(C2):c.1414G>A (p.Ala472Thr) rs142243595 0.00105
NM_000063.6(C2):c.1413C>T (p.Asn471=) rs138221333 0.00041
NM_000063.6(C2):c.1450A>G (p.Ile484Val) rs145988012 0.00031
NM_000063.6(C2):c.929A>G (p.Asn310Ser) rs144201432 0.00031
NM_000063.6(C2):c.73C>T (p.Pro25Ser) rs200095096 0.00029
NM_000063.6(C2):c.749C>G (p.Ser250Cys) rs150827255 0.00027
NM_000063.6(C2):c.2080-8T>C rs201806170 0.00022
NM_000063.6(C2):c.218C>T (p.Pro73Leu) rs137902889 0.00020
NM_001710.6(CFB):c.221G>A (p.Arg74His) rs117314762 0.00019
NM_000063.5(C2):c.-145A>C rs150299426 0.00017
NM_000063.6(C2):c.1130-11C>T rs117576077 0.00017
NM_000063.6(C2):c.936C>G (p.Asn312Lys) rs532091149 0.00017
NM_000063.6(C2):c.*82C>T rs747202032 0.00016
NM_000063.6(C2):c.1716G>C (p.Lys572Asn) rs376278843 0.00016
NM_000063.6(C2):c.1169A>C (p.Asp390Ala) rs142088624 0.00014
NM_000063.6(C2):c.1613C>T (p.Ala538Val) rs140194348 0.00014
NM_000063.6(C2):c.1577A>G (p.Lys526Arg) rs146054348 0.00011
NM_000063.6(C2):c.1902+5G>A rs201711512 0.00009
NM_000063.6(C2):c.2253C>T (p.Pro751=) rs771797450 0.00009
NM_000063.6(C2):c.1109C>T (p.Ala370Val) rs777200072 0.00007
NM_000063.6(C2):c.980A>G (p.Asn327Ser) rs766665783 0.00007
NM_000063.6(C2):c.*304A>G rs72842444 0.00006
NM_000063.6(C2):c.1529G>A (p.Arg510His) rs45476300 0.00006
NM_000063.6(C2):c.442+15T>G rs776839411 0.00006
NM_000063.6(C2):c.*141C>T rs1026987640 0.00005
NM_000063.6(C2):c.-36G>A rs758966628 0.00005
NM_000063.6(C2):c.386G>A (p.Arg129His) rs367996721 0.00005
NM_000063.6(C2):c.1981G>A (p.Asp661Asn) rs374481091 0.00004
NM_000063.6(C2):c.245C>T (p.Ala82Val) rs547881286 0.00004
NM_000063.6(C2):c.*286T>C rs948285998 0.00003
NM_000063.6(C2):c.1082C>T (p.Thr361Met) rs61730574 0.00001
NM_000063.6(C2):c.1835G>A (p.Ser612Asn) rs573509224 0.00001
NM_000063.6(C2):c.283T>G (p.Phe95Val) rs201023669 0.00001
NM_000063.6(C2):c.819C>T (p.Phe273=) rs886360667 0.00001
NM_000063.5(C2):c.-37C>A rs776263411
NM_000063.6(C2):c.*120T>C rs886061294
NM_000063.6(C2):c.*183C>T rs567255004
NM_000063.6(C2):c.-21G>A rs764589447
NM_000063.6(C2):c.1066C>T (p.Leu356Phe) rs886061293
NM_000063.6(C2):c.109C>T (p.Leu37Phe) rs1310333522
NM_000063.6(C2):c.1239G>C (p.Val413=) rs751253087
NM_000063.6(C2):c.149C>T (p.Ser50Phe) rs1277611780
NM_000063.6(C2):c.1602T>C (p.Leu534=) rs767886405
NM_000063.6(C2):c.2201G>T (p.Arg734Leu) rs146067615
NM_000063.6(C2):c.313G>A (p.Gly105Arg) rs886061292
NM_000063.6(C2):c.337G>A (p.Val113Met) rs1769482101
NM_000063.6(C2):c.81C>T (p.Asn27=) rs201336507
NM_000063.6(C2):c.913C>T (p.Leu305Phe) rs1562601398
NM_001710.6(CFB):c.1524C>T (p.His508=) rs138207668

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