ClinVar Miner

List of variants in gene C2 studied for complement component 2 deficiency

Included ClinVar conditions (2):
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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000063.6(C2):c.1023G>A (p.Ala341=) rs1042663 0.11857
NM_000063.6(C2):c.954G>C (p.Glu318Asp) rs9332739 0.03307
NM_000063.6(C2):c.2200C>T (p.Arg734Cys) rs4151648 0.00474
NM_000063.6(C2):c.443-4G>A rs9332719 0.00380
NM_000063.6(C2):c.2171C>T (p.Pro724Leu) rs145050210 0.00081
NM_000063.6(C2):c.1413C>T (p.Asn471=) rs138221333 0.00041
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.218C>T (p.Pro73Leu) rs137902889 0.00020
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.1902+5G>A rs201711512 0.00013
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.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.849+59G>A rs764825466 0.00002
NM_000063.6(C2):c.988+5G>A rs780974763 0.00002
NM_000063.6(C2):c.1082C>T (p.Thr361Met) rs61730574 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.1063C>T (p.Arg355Ter)
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.1399A>C (p.Asn467His) rs1771039921
NM_000063.6(C2):c.149C>T (p.Ser50Phe) rs1277611780
NM_000063.6(C2):c.1567+22_1567+43del rs541057516
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.839_849del (p.Met280fs) rs1770220135
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000063.6(C2):c.913C>T (p.Leu305Phe) rs1562601398

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