ClinVar Miner

List of variants reported as risk factor for anemia (disease) by OMIM

Included ClinVar conditions (262):
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Total variants: 36
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HGVS dbSNP
CD46, 2-BP DEL, 843AC
CD46, 6-BP DEL
CD46, IVS1AS, G-C, -1
NM_000064.4(C3):c.1775G>A (p.Arg592Gln) rs121909583
NM_000064.4(C3):c.2562C>G (p.Tyr854Ter) rs121909586
NM_000064.4(C3):c.3281C>T (p.Ala1094Val) rs121909584
NM_000064.4(C3):c.3343G>A (p.Asp1115Asn) rs121909585
NM_000186.3(CFH):c.2697T>A (p.Tyr899Ter) rs121913057
NM_000186.3(CFH):c.3514G>T (p.Glu1172Ter) rs121913060
NM_000186.3(CFH):c.3566T>G (p.Leu1189Arg) rs121913055
NM_000186.3(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000186.3(CFH):c.3592G>T (p.Glu1198Ter) rs121913063
NM_000186.3(CFH):c.3628C>T (p.Arg1210Cys) rs121913059
NM_000186.3(CFH):c.3643C>G (p.Arg1215Gly) rs121913051
NM_000186.3(CFH):c.3677_*4del (p.Pro1226_Ter1232delinsXaa) rs796052136
NM_000186.3(CFH):c.83_86del (p.Arg28fs) rs796052137
NM_000204.4(CFI):c.1420C>T (p.Arg474Ter) rs121964913
NM_000204.4(CFI):c.1555G>A (p.Asp519Asn) rs121964918
NM_000204.4(CFI):c.1571A>T (p.Asp524Val) rs121964914
NM_000204.4(CFI):c.1637G>A (p.Trp546Ter) rs121964915
NM_000204.4(CFI):c.355G>A (p.Gly119Arg) rs141853578
NM_000204.4(CFI):c.949C>T (p.Arg317Trp) rs121964917
NM_000361.2(THBD):c.127G>A (p.Ala43Thr) rs1800576
NM_000361.2(THBD):c.1483C>T (p.Pro495Ser) rs1800578
NM_000361.2(THBD):c.158A>G (p.Asp53Gly) rs121918667
NM_001710.5(CFB):c.858C>G (p.Phe286Leu) rs117905900
NM_001710.5(CFB):c.967A>G (p.Lys323Glu) rs121909748
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.718T>C (p.Ser240Pro) rs121909589
NM_003647.2(DGKE):c.188G>C (p.Arg63Pro) rs312262694
NM_003647.3(DGKE):c.32C>A (p.Ser11Ter) rs148605410
NM_003647.3(DGKE):c.486dup (p.Val163fs) rs312262699
NM_003647.3(DGKE):c.818G>C (p.Arg273Pro) rs312262695
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661
NM_015937.6(PIGT):c.1401-2A>G rs587777028

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