ClinVar Miner

List of variants in gene CD46 studied for Atypical hemolytic uremic syndrome

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Total variants: 32
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HGVS dbSNP
NM_002389.4(CD46):c.*1099A>G rs886045842
NM_002389.4(CD46):c.*1111C>G rs193023975
NM_002389.4(CD46):c.*1435T>C rs14374
NM_002389.4(CD46):c.*1498G>T rs117431447
NM_002389.4(CD46):c.*1641A>G rs886045843
NM_002389.4(CD46):c.*1659A>G rs886045844
NM_002389.4(CD46):c.*1665G>A rs886045845
NM_002389.4(CD46):c.*180T>C rs886045840
NM_002389.4(CD46):c.*1875T>G rs1237
NM_002389.4(CD46):c.*1888C>T rs886045846
NM_002389.4(CD46):c.*1963C>T rs886045847
NM_002389.4(CD46):c.*31A>G rs886045839
NM_002389.4(CD46):c.*503A>G rs2724390
NM_002389.4(CD46):c.*517T>A rs539666226
NM_002389.4(CD46):c.*52G>A rs373138507
NM_002389.4(CD46):c.*614T>C rs561506830
NM_002389.4(CD46):c.*897T>C rs7144
NM_002389.4(CD46):c.*918G>A rs6664092
NM_002389.4(CD46):c.*920A>G rs886045841
NM_002389.4(CD46):c.*968T>A rs768037862
NM_002389.4(CD46):c.-6C>T rs886045836
NM_002389.4(CD46):c.1128-10C>T rs41317997
NM_002389.4(CD46):c.286+2T>G rs769742294
NM_002389.4(CD46):c.901+4T>A rs886045837
NM_002389.4(CD46):c.946+9A>G rs370112627
NM_172351.3(CD46):c.1013C>T (p.Ala338Val) rs35366573
NM_172351.3(CD46):c.118A>G (p.Thr40Ala) rs753924720
NM_172351.3(CD46):c.276C>T (p.Asp92=) rs148383499
NM_172351.3(CD46):c.574G>C (p.Asp192His) rs368371683
NM_172351.3(CD46):c.860C>T (p.Ser287Leu) rs751860518
NM_172351.3(CD46):c.887C>T (p.Ala296Val) rs753859532
NM_172351.3(CD46):c.949C>G (p.Pro317Ala) rs886045838

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