ClinVar Miner

List of variants in gene CD46 reported as pathogenic for atypical hemolytic-uremic syndrome with MCP/CD46 anomaly

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_172351.3(CD46):c.286+2T>G rs769742294 0.00004
NM_172351.3(CD46):c.350_351dup (p.Glu118fs) rs2102541856
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
NM_172351.3(CD46):c.907del (p.Arg303fs)

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