ClinVar Miner

List of variants in gene CD46 studied for anemia (disease)

Included ClinVar conditions (263):
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Total variants: 45
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HGVS dbSNP
CD46, 2-BP DEL, 843AC
CD46, 6-BP DEL
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.104G>A (p.Cys35Tyr) rs121909591
NM_002389.4(CD46):c.1058C>T (p.Ala353Val) rs35366573
NM_002389.4(CD46):c.1128-10C>T rs41317997
NM_002389.4(CD46):c.118A>G (p.Thr40Ala) rs753924720
NM_002389.4(CD46):c.175C>T (p.Arg59Ter) rs121909590
NM_002389.4(CD46):c.276C>T (p.Asp92=) rs148383499
NM_002389.4(CD46):c.286+2T>G rs769742294
NM_002389.4(CD46):c.402T>G (p.Ile134Met) rs1553250568
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.574G>C (p.Asp192His) rs368371683
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.901+4T>A rs886045837
NM_002389.4(CD46):c.905C>T (p.Ser302Leu) rs751860518
NM_002389.4(CD46):c.932C>T (p.Ala311Val) rs753859532
NM_002389.4(CD46):c.946+9A>G rs370112627
NM_002389.4(CD46):c.98-1G>C
NM_002389.4(CD46):c.994C>G (p.Pro332Ala) rs886045838

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