ClinVar Miner

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

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_172351.3(CD46):c.*897T>C rs7144 0.40706
NM_172351.3(CD46):c.*1875T>G rs1237 0.04298
NM_172351.3(CD46):c.*1435T>C rs14374 0.03161
NM_172351.3(CD46):c.1083-10C>T rs41317997 0.02234
NM_172351.3(CD46):c.*503A>G rs2724390 0.02021
NM_172351.3(CD46):c.1013C>T (p.Ala338Val) rs35366573 0.01505
NM_172351.3(CD46):c.*918G>A rs6664092 0.01233
NM_172351.3(CD46):c.417A>G (p.Leu139=) rs12126088 0.00583
NM_172351.3(CD46):c.453C>T (p.Ser151=) rs145041158 0.00408
NM_172351.3(CD46):c.*1498G>T rs117431447 0.00133

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