ClinVar Miner

List of variants studied for complement deficiency by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_006610.4(MASP2):c.359A>G (p.Asp120Gly) rs72550870 0.02284
NM_001734.5(C1S):c.943G>A (p.Asp315Asn) rs117907409 0.00349
NM_000065.5(C6):c.1879del (p.Asp627fs) rs61469168 0.00328
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg) rs41278047 0.00243
NM_006610.4(MASP2):c.263C>T (p.Thr88Met) rs61735601 0.00197
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210 0.00118
NM_001737.5(C9):c.1451T>A (p.Met484Lys) rs145969667 0.00109
NM_000062.3(SERPING1):c.5C>T (p.Ala2Val) rs185342631 0.00094
NM_000063.6(C2):c.2171C>T (p.Pro724Leu) rs145050210 0.00081
NM_006610.4(MASP2):c.352C>T (p.Arg118Cys) rs147270785 0.00066
NM_000361.3(THBD):c.683C>T (p.Pro228Leu) rs375011249 0.00060
NM_001378156.1(C1QB):c.217G>A (p.Gly73Arg) rs35477594 0.00054
NM_001710.6(CFB):c.658+7T>C rs541260302 0.00049
NM_000066.4(C8B):c.967C>T (p.Arg323Trp) rs141295453 0.00046
NM_000063.6(C2):c.1450A>G (p.Ile484Val) rs145988012 0.00031
NM_000361.3(THBD):c.1361T>C (p.Val454Ala) rs147377392 0.00029
NM_001737.5(C9):c.1585G>A (p.Ala529Thr) rs137891079 0.00028
NM_000066.4(C8B):c.212C>G (p.Ser71Cys) rs148570619 0.00025
NM_000587.4(C7):c.659G>A (p.Arg220Gln) rs369349760 0.00017
NM_000066.4(C8B):c.164G>A (p.Ser55Asn) rs144586148 0.00013
NM_001737.5(C9):c.355T>G (p.Cys119Gly) rs121909593 0.00013
NM_015991.4(C1QA):c.162G>A (p.Pro54=) rs375714569 0.00013
NM_000186.4(CFH):c.2461C>T (p.His821Tyr) rs367687415 0.00010
NM_001928.4(CFD):c.463A>G (p.Ile155Val) rs373019471 0.00010
NM_006610.4(MASP2):c.100G>A (p.Gly34Ser) rs373677176 0.00009
NM_000064.4(C3):c.1758G>A (p.Glu586=) rs764201055 0.00007
NM_172369.5(C1QC):c.8T>C (p.Val3Ala) rs367838299 0.00006
NM_000186.4(CFH):c.481G>T (p.Ala161Ser) rs777300338 0.00004
NM_000204.5(CFI):c.1532C>T (p.Ala511Val) rs760801046 0.00004
NM_001735.3(C5):c.3413G>A (p.Arg1138Gln) rs779879112 0.00003
NM_006610.4(MASP2):c.1574A>G (p.His525Arg) rs745359886 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_172369.5(C1QC):c.706G>A (p.Val236Ile) rs774542072 0.00002
NM_000065.5(C6):c.928-1G>C rs1432520854 0.00001
NM_000562.3(C8A):c.1589A>T (p.Gln530Leu) rs182161894 0.00001
NM_001734.5(C1S):c.1139C>T (p.Ser380Phe) rs782329906 0.00001
NM_001734.5(C1S):c.514G>A (p.Gly172Arg) rs375308014 0.00001
NM_000062.3(SERPING1):c.1147A>G (p.Met383Val) rs746382640
NM_000062.3(SERPING1):c.1450C>T (p.Gln484Ter) rs2135328243
NM_000064.4(C3):c.2951-5_2951-3del rs544122376
NM_000064.4(C3):c.4947C>T (p.Leu1649=)
NM_000066.4(C8B):c.1398+9C>T rs116348786
NM_000186.4(CFH):c.3306C>G (p.Cys1102Trp)
NM_000587.4(C7):c.2125C>A (p.Gln709Lys)
NM_001734.5(C1S):c.1198G>C (p.Glu400Gln) rs150549869
NM_001737.5(C9):c.1039_1042del (p.Ser347fs) rs1027370764
NM_001737.5(C9):c.1346T>C (p.Val449Ala)
NM_003665.4(FCN3):c.142G>A (p.Gly48Arg)
NM_172351.3(CD46):c.944-1G>C
NM_172369.5(C1QC):c.19_20delinsAA (p.Ser7Asn) rs1557603993
NM_172369.5(C1QC):c.19delinsAA (p.Ser7fs)

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