ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP
CD46, 2-BP DEL, 843AC
CD46, 6-BP DEL
NM_002389.4(CD46):c.104G>A (p.Cys35Tyr) rs121909591
NM_002389.4(CD46):c.175C>T (p.Arg59Ter) rs121909590
NM_002389.4(CD46):c.404del (p.Gly135fs)
NM_002389.4(CD46):c.417A>G (p.Leu139=) rs12126088
NM_002389.4(CD46):c.542_543del (p.Val180_Phe181insTer) rs1057516191
NM_002389.4(CD46):c.604C>T (p.Leu202Phe) rs750324925
NM_002389.4(CD46):c.685C>T (p.Arg229Ter) rs1553251787
NM_002389.4(CD46):c.718T>C (p.Ser240Pro) rs121909589
NM_002389.4(CD46):c.776del (p.Gly259fs) rs886039868
NM_002389.4(CD46):c.98-1G>C

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