ClinVar Miner

List of variants reported as pathogenic for complement deficiency by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000066.4(C8B):c.1282C>T (p.Arg428Ter) rs41286844 0.00118
NM_001710.6(CFB):c.1374G>A (p.Met458Ile) rs200837114 0.00004
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000064.4(C3):c.169_170del (p.Val57fs) rs1568229677
NM_000064.4(C3):c.3737_3738del (p.Asp1245_Phe1246insTer) rs1568212112
NM_000186.4(CFH):c.1126C>T (p.Gln376Ter) rs1573026975
NM_000186.4(CFH):c.1318_1327del (p.Pro440fs) rs1558162157
NM_000186.4(CFH):c.2535dup (p.Gln846fs) rs1573076111
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter) rs121913057
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg) rs886039869
NM_000186.4(CFH):c.3134-2A>G rs1300996807
NM_000186.4(CFH):c.710_711del (p.Lys236_Cys237insTer) rs1553273733
NM_000587.4(C7):c.2350+1del rs779723422
NM_000587.4(C7):c.317del (p.Asp106fs) rs1579848888
NM_172351.3(CD46):c.404del (p.Gly135fs) rs1571588257
NM_172351.3(CD46):c.542_543del (p.Val180_Phe181insTer) rs1057516191
NM_172351.3(CD46):c.604C>T (p.Leu202Phe) rs750324925
NM_172351.3(CD46):c.714_715del (p.Gln238fs) rs1571616755
NM_172351.3(CD46):c.776del (p.Gly259fs) rs886039868
NM_172351.3(CD46):c.828G>A (p.Trp276Ter) rs1571617647

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